scholarly journals 912 Unusual Presentation Of JAK-2; A Degenerating Breast Neurofibroma

2021 ◽  
Vol 108 (Supplement_6) ◽  
Author(s):  
R Crompton ◽  
R Salman

Abstract Introduction 29-year-old lady presented to ED with acutely enlarging painless right breast swelling. No history of trauma; diagnosis likely breast abscess. Significant growth during short inpatient admission with incidental clinical finding of multiple cutaneous skin nodules from childhood, mother had similar lesions. CT chest performed illustrating large anterior chest wall mass 15.2x15.7x24.7cm. Transferred to regional plastic surgery unit for resection. Haematological abnormality identified on routine bloods which was life changing. Description Attended ED following a three-day history of a rapidly progressive right breast mass causing necrosis and blistering of overlying skin with drop in haemoglobin from 138 to 94 overnight. Transferred to regional plastic surgery unit where she underwent an evacuation of breast haematoma and excision of neurofibroma and was transfused 2 units of blood. Pathology revealed a degenerating neurofibroma. Abnormal coagulation and blood film during inpatient stay prompted subsequent bone marrow biopsy which revealed diagnosis of myeloproliferative neoplasm later found to be JAK-2 V617F mutation positive. Discussion Patient moved to UK 6 years ago from Lithuania, previously lived within area affected by Chernobyl nuclear disaster. JAK-2 myeloproliferative disease typically presents in middle aged but also reported as radiation acquired. Risk benefit of anti-platelet therapy for myeloproliferative malignancy evaluated due to high probability of re-bleeding. Complex case of Neurofibromatosis-1 and Myeloproliferative disease; diagnosis presented as a breast lump. Multidisciplinary input from surgery, haematology, genetics and neurology for best outcome.

2021 ◽  
Author(s):  
Shima Salehi ◽  
Rozita Hosseini Shamsabadi ◽  
Hassan Otukesh ◽  
Reza Shiari ◽  
Monir Sharafi

Abstract Background: Lupus is an inflammatory and autoimmune disease that involves various tissues and organs of the body. Identification of diagnostic elements to rapid identification of seronegative lupus cases is very important in order to prevent morbidity and progression of disease. This study aimed to compare clinical and laboratory findings of seropositive cases with seronegative lupus patients. Methods: This cross-sectional analytic study was performed on 43 children (17 seronegative and 26 seropositive) with lupus who were admitted to Ali Asghar Hospital during 2007-2017. Seropositive patients had anti-nuclear antibody (ANA) titration >1/80, while seronegative patients had ANA titration <1/80 (at the time of disease diagnosis). Clinical and laboratory findings were compared between two groups.Results: Serositis in patients with ANA- was significantly higher than ANA+ (41.17% vs. 23.07%; p = 0.042). ANA- group had higher autoimmune disease history than ANA+ group (42.85% vs. 15.0%; p = 0.041). The family history of the disease in the ANA- group was greater than ANA+ group (50% vs. 23.52%). The percentage of hypertensive patients in ANA- group was higher than ANA+ group (52.94% vs. 26.92%; p = 0.037). Neurologic symptoms in ANA+ and ANA- groups were 38.46% and 17.64%, respectively (p = 0.043). The frequency of patients with thrombocytopenia in ANA+ group was significantly greater than ANA- group (32% vs. 12.5%; p=0.041). There was no significant difference in other clinical and laboratory findings between two groups. Conclusion: Seronegative lupus patients had higher percentage of musculoskeletal symptoms, autoimmune disease history, familial history of disease, and hypertension, while neurological and thrombocytopenia symptoms were higher in seropositive patients compared to seronegative cases. Therefore, evaluation of these factors can be helpful to diagnosis of seronegative patients.


2014 ◽  
Vol 31 (3) ◽  
pp. 162-167
Author(s):  
S Giti ◽  
MN Bhuiyan ◽  
MR Hossain ◽  
MS Islam ◽  
F Ahmed ◽  
...  

The patient, a young soldier aged 36 years having past history of malaria, was admitted in CMH Dhaka on 17 August 2011 as a transferred case from CMH Saidpur and died on 22 August 2011. The deceased was admitted in CMH Saidpur on 05 August 2011 with high fever for 05 days along with generalized joint and muscle pain. In spite of all available treatment the patient was deteriorating and he was then transferred to CMH Dhaka. At that time the patient was febrile, dehydrated and toxic with lymphadenopathy, extremely tender joints and muscles. The patient rapidly developed acute kidney failure and gradually developed features of DIC. His bone marrow examination revealed dyserythropoiesis with predominantly eosinophilic granulopoiesis, suggestive of myeloproliferative neoplasm with prominent eosinophilia. The patient was treated with injectable antibiotics, antimalarial and oral prednisolone with all intensive care facilities. Ultimately all attempts were proved unsuccessful and he died on 22 August 2011 at 1700 hrs. On autopsy the deceased had intra atrial thrombus and possibly that was the immediate cause of death. A haematological malignancy, myeloproliferative neoplasm with prominent eosinophilia, can very well produce such a fatal condition. DOI: http://dx.doi.org/10.3329/jbcps.v31i3.20985 J Bangladesh Coll Phys Surg 2013; 31: 162-167


2018 ◽  
Vol 31 (04) ◽  
pp. 571-577 ◽  
Author(s):  
Margaret Miller ◽  
Dennis Orwat ◽  
Gelareh Rahimi ◽  
Jacobo Mintzer

ABSTRACTIntroduction:The relationship between Alzheimer’s Disease (AD) and alcohol addiction is poorly characterized. Arrests for driving under the influence (DUI) can serve as a proxy for alcohol addiction. Therefore, the potential association between DUI and AD could be helpful in understanding the relationship between alcohol abuse and AD.Materials and methods:A retrospective, population-based cohort study using state health and law enforcement data was performed. The study cross-referenced 141,281 South Carolina Alzheimer’s Disease Registry cases with state law enforcement data.Results:Of the 2,882 registry cases (1.4%) found to have a history of at least one DUI arrest, cases were predominantly White (58.7%) and male (77.4%). Results showed a correlation coefficient of 0.7 (p &lt; 0.0001) between the age of first DUI arrest and the age of AD diagnosis. A dose-response relationship between the number of DUIs and age of AD onset was found to exist, where those with a history of DUI arrest were diagnosed an average of 9.1 years earlier, with a further 1.8 years earlier age at diagnosis in those with two or more arrests for DUI. A history of DUI arrest was also found to be negatively associated with survival after diagnosis, with a 10% decreased life expectancy in those with a DUI arrest history.Conclusions:Driving under the influence, a potential indicator of alcohol addiction, is associated with an earlier onset of AD registry diagnosis and shortened survival after diagnosis. This study contributes to the growing body of evidence suggesting that some cases of AD are alcohol related and, possibly, postponable or preventable.


2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Jayan George ◽  
Michael Peirson ◽  
Samuel Birks ◽  
Paul Skinner

We describe the case of a 37-year-old gentleman with Crohn’s disease and a complex surgical history including a giant incisional hernia with no abdominal wall. He presented on a Sunday to the general surgical on-call with a four-day history of generalised abdominal pain, nausea, and decreased stoma output following colonoscopy. After CT imaging, he was diagnosed with a large colonic perforation. Initially, he was worked up for theatre but following early senior input, a conservative approach with antibiotics was adopted. The patient improved significantly and is currently awaiting plastic surgery input for the management of his abdominal wall defect.


Author(s):  
Joydeepa Darlong ◽  
Karthikeyan Govindasamy ◽  
Amrita Daniel

Objectives: The objectives of the study were to characterize the clinical profile of childhood leprosy presenting at tertiary leprosy care hospitals in the states of Bihar, West Bengal and Uttar Pradesh in India, and to determine the possible risk factors associated with disabilities at presentation. Methods: Subjects were children with newly diagnosed leprosy registered for treatment at tertiary Leprosy Mission Hospitals in Muzaffarpur (Bihar), Purulia (West Bengal) and Faizabad (Uttar Pradesh), India, between June and December 2019. Demographic and leprosy characteristics were collected at the time of diagnosis. Parents/guardians were interviewed on reasons for delay in presenting at the hospital. Associations between various factors and delay in diagnosis were assessed. Results: Among the 84 children, the mean (SD) age was 10 (3) years with a range of 4–14 years. There were more boys (58%) and most children were currently in school (93%), resident in rural areas (90%) and belonged to a lower socioeconomic status (68%). More children were diagnosed with multibacillary leprosy (69%), one-third of them being skin smear positive for Mycobacterium leprae. On presentation, 17% had deformity (5% grade 1 deformity and 12% grade 2), 29% had nerve involvement and skin lesions were spread across the body in half of the children. Mean (SD) duration of delay was 10.5 (9.8) months. Delayed presentation was more in boys (43% vs. 17%; P = 0.01), those without a history of migration for work compared to those who had a history of migration (40% vs. 9%; P = 0.008) and in those children who were from a poor economic status compared with those that came from a better economic status (44% vs. 7%; P = 0.001) Limitations: Because our study was conducted at tertiary care hospitals, the findings are not representative of the situation in the field. Furthermore, a comparison group of newly diagnosed adult leprosy patients with disability could have been included in the study. Conclusion: Childhood leprosy continues to occur in endemic pockets in India and a substantial number present with skin smear positivity and deformity. Guardians of these children cite many reasons for the delay in presentation.


2022 ◽  
Vol 9 (1) ◽  
pp. 82-84
Author(s):  
Syed Sajid Hussain Shah ◽  
Bibi Aaliya

A two-month-old male infant presented with history of respiratory difficulty and got admitted with provisional diagnosis of pneumonia. On examination patient was having unilateral nasal hypoplasia and cyanosis with echocardiography showing truncus arteriosus. Detail history revealed that mother had valve replacement and she was taking warfarin during pregnancy. After initial management patient was referred to pediatric cardiac surgery and plastic surgery for further management. Parents were counseled regarding contraception and family planning.  


2021 ◽  
Vol 21 (3) ◽  
pp. 57
Author(s):  
O.V. Yakovleva ◽  
A.G. Yashchuk ◽  
I.I. Musin ◽  
A.V. Maslennikov ◽  
A.A. Tyurina ◽  
...  

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