Hypertriglyceridemia thalassemia syndrome

2018 ◽  
Vol 31 (7) ◽  
pp. 821-822
Author(s):  
Mili Jain ◽  
Wahid Ali ◽  
Brijendra Bahadur Singh ◽  
Nishant Verma ◽  
Ashutosh Kumar
Keyword(s):  
Oxidative Stress ◽  
Acute Pancreatitis ◽  
Nephrotic Syndrome ◽  
Early Recognition ◽  
Thalassemia Major ◽  
Rare Entity ◽  
Transfusion Therapy ◽  
Case Presentation ◽  
Coronary Diseases ◽  
Secondary Causes

Abstract Background Hypertriglyceridemia thalassemia syndrome is a rare entity with an unknown pathogenetic link. Case presentation We report a case of an 8-month-old female with thalassemia major and increased triglyceride (TG) levels. The clinical features were as in classical thalassemia except for a white discoloration of the plasma. After exclusion of familial triglyceridemia and secondary causes (hypothyroidism, nephrotic syndrome, drugs etc.), a diagnosis of hypertriglyceridemia thalassemia syndrome was made. Conclusions The high levels of TG in these patients are associated with oxidative stress and higher risk of acute pancreatitis and coronary diseases. An early recognition is thus essential. In our patient, the levels reduced after a transfusion therapy similar to previous reports.

scholarly journals Cystic papillary adenoma of the seminal vesicle

BMC Urology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
B. Heijkoop ◽  
D. Bolton ◽  
D. Katz ◽  
Andrew Ryan ◽  
J. Epstein ◽  
...  
Keyword(s):  
Seminal Vesicle ◽  
Rare Case ◽  
Groin Pain ◽  
Iliac Fossa ◽  
Papillary Adenoma ◽  
Rare Entity ◽  
Macroscopic Haematuria ◽  
Case Presentation ◽  
Adjacent Organ ◽  
Epithelial Tumours

Abstract Background Primary Seminal Vesicle (SV) tumours are a rare entity, with most SV masses representing invasion of the SV by malignancy originating in an adjacent organ, most often the prostate. Previously reported primary SV epithelial tumours have included adenocarcinoma and cystadenoma, with limited prior reports of inracystic papillary structures. Case presentation A 35-year-old male presented with azoospermia, intermittent macroscopic haematuria, and mild right iliac fossa and groin pain. A papillary appearing seminal vesicle mass was found on imaging and seminal vesicoscopy. The mass was robotically excised with diagnosis of benign cystic papillary adenoma made. Conclusion In this manuscript we describe a rare case of a benign cystic papillary adenoma of the seminal vesicle, a unique histological entity differentiated from cystadenoma of the Seminal Vesicle by its papillary component.

scholarly journals Bilateral scrotoshisis a rare entity: case report

2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Shazia Perveen ◽  
Mishraz Shaikh ◽  
Sajid Ali
Keyword(s):  
Case Report ◽  
Rare Entity ◽  
Case Presentation ◽  
Rare Anomaly ◽  
Normal Term ◽  
Twin Delivery

Abstract Background Scrotoschisis is a rare anomaly in which the testis is lying outside scrotum congenitally. Only few cases have been reported in literature under different names most of which are unilateral. We have found only one case of bilateral scrotoschisis in literature. Case presentation Newborn presented to us after normal term twin delivery as a case of bilateral scrotoschisis in which both testes were lying outside the scrotum congenitally. Baby underwent uneventful bilateral orchiopexy and was discharged home the next day. Conclusion Scrotoschisis is a very rare genital anomaly with only a few cases reported in literature. This report would add to the literature which would help in studying the exact mechanism and embryopathogenesis of this anomaly which is not known yet.

Stimulation of stellate cells by injured acinar cells: a model of acute pancreatitis induced by alcohol and fat (VLDL)

2009 ◽  
Vol 297 (6) ◽  
pp. G1163-G1171 ◽  
Author(s):  
Marco Siech ◽  
Zhengfei Zhou ◽  
Shaoxia Zhou ◽  
Bernd Bair ◽  
Andreas Alt ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Acute Pancreatitis ◽  
Acinar Cell ◽  
Cell Injury ◽  
Stellate Cell ◽  
Stellate Cells ◽  
Pancreatic Acinar Cell ◽  
Pancreatic Stellate Cells ◽  
Matrix Synthesis ◽  
Repair Mechanisms

Mechanisms leading to acute pancreatitis after a fat-enriched meal combined with excess alcohol are incompletely understood. We have studied the effects of alcohol and fat (VLDL) on pancreatic acinar cell (PAC) function, oxidative stress, and repair mechanisms by pancreatic stellate cells (PSC) leading to fibrogenesis. To do so, PAC (rat) were isolated and cultured up to 24 h. Ethanol and/or VLDL were added to PAC. We measured PAC function (amylase, lipase), injury (lactic dehydrogenase), apoptosis (TUNEL, Apo2.7, annexin V binding), oxidative stress, and lipid peroxidation (conjugated dienes, malondialdehyde, chemoluminescence); we also measured PSC proliferation (bromodeoxyuridine incorporation), matrix synthesis (immunofluorescence of collagens and fibronectin, fibronectin immunoassay), and fatty acids in PAC supernatants (gas chromatography). Within 6 h, cultured PAC degraded and hydrolyzed VLDL completely. VLDL alone (50 μg/ml) and in combination with alcohol (0.2, 0.5, and 1% vol/vol) induced PAC injury (LDL, amylase, and lipase release) within 2 h through generation of oxidative stress. Depending on the dose of VLDL and alcohol, apoptosis and/or necrosis were induced. Antioxidants (Trolox, Probucol) reduced the cytotoxic effect of alcohol and VLDL. Supernatants of alcohol/VLDL-treated PAC stimulated stellate cell proliferation and extracellular matrix synthesis. We concluded that, in the presence of lipoproteins, alcohol induces acinar cell injury. Our results provide a biochemical pathway for the clinical observation that a fat-enriched meal combined with excess alcohol consumption can induce acinar cell injury (acute pancreatitis) followed by repair mechanisms (proliferation and increased matrix synthesis in PSC).

Role of Cytokines and Oxidative Stress in the Pathophysiology of Acute Pancreatitis: Therapeutical Implications

2002 ◽  
Vol 1 (4) ◽  
pp. 393-403 ◽  
Author(s):  
L.G. Gomez-Cambronero ◽  
L. Sabater ◽  
J. Pereda ◽  
N. Cassinello ◽  
B. Camps ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Acute Pancreatitis ◽  
And Oxidative Stress ◽  
Pathophysiology Of Acute Pancreatitis

Postpartum ovarian vein thrombosis

2021 ◽  
Vol 10 (1) ◽  
Author(s):  
Kelly Ribeiro ◽  
Samir Mahboobani ◽  
Katherine Van Ree ◽  
Katy Clifford ◽  
TG Teoh
Keyword(s):  
Abdominal Pain ◽  
Complete Resolution ◽  
Early Recognition ◽  
Ovarian Vein ◽  
Transabdominal Ultrasound ◽  
Case Presentation ◽  
Vein Thrombosis ◽  
Prompt Treatment ◽  
Life Threatening ◽  
Ovarian Vein Thrombosis

Abstract Objectives Postpartum ovarian vein thrombosis (POVT) is a rare pathology that can lead to severe complications such as sepsis, extension of the thrombus leading to organ failure, and pulmonary embolism. It therefore requires early recognition and prompt treatment. Case presentation A patient with right POVT presented four days after delivery with acute right-sided abdominal pain and fever. Appendicitis was initially considered, before an abdominal-pelvic computed tomography raised the suspicion of POVT, subsequently confirmed through transabdominal ultrasound. Antibiotics and anticoagulation were initiated, with rapid clinical improvement and complete resolution of the thrombus three months later. Conclusions Diagnosing POVT is challenging as it clinically mimics other more frequent conditions. It is rare but life-threatening and should be considered in all females presenting with abdominal pain and fever in the postpartum period.

Lessons in clinical reasoning ‒ pitfalls, myths and pearls: a case of recurrent pancreatitis

Diagnosis ◽  
2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Vita Jaspan ◽  
Verity Schaye ◽  
Andrew S. Parsons ◽  
David Kudlowitz
Keyword(s):  
Acute Pancreatitis ◽  
Clinical Reasoning ◽  
Cognitive Biases ◽  
Diagnostic Errors ◽  
Diagnostic Error ◽  
First Episode ◽  
Gut Flora ◽  
Case Presentation ◽  
Early Hypothesis ◽  
Elevated Transaminases

Abstract Objectives Cognitive biases can result in clinical reasoning failures that can lead to diagnostic errors. Autobrewery syndrome is a rare, but likely underdiagnosed, condition in which gut flora ferment glucose, producing ethanol. It most frequently presents with unexplained episodes of inebriation, though more case studies are necessary to better characterize the syndrome. Case presentation This is a case of a 41-year old male with a past medical history notable only for frequent sinus infections, who presented with recurrent episodes of acute pancreatitis. In the week prior to his first episode of pancreatitis, he consumed four beers, an increase from his baseline of 1–2 drinks per month. At home, he had several episodes of confusion, which he attributed to fatigue. He underwent laparoscopic cholecystectomy and testing for genetic and autoimmune causes of pancreatitis, which were non-revealing. He was hospitalized 10 more times during that 9-month period for acute pancreatitis with elevated transaminases. During these admissions, he had elevated triglycerides requiring an insulin drip and elevated alcohol level despite abstaining from alcohol for the prior eight months. His alcohol level increased after consumption of complex carbohydrates, confirming the diagnosis of autobrewery syndrome. Conclusions Through integrated commentary on the diagnostic reasoning process, this case underscores how overconfidence can lead to premature closure and anchoring resulting in diagnostic error. Using a metacognitive overview, case discussants describe the importance of structured reflection and a standardized approach to early hypothesis generation to navigate these cognitive biases.

scholarly journals Carotid intima-media thickness and oxidative stress markers for assessment of atherosclerosis in children with β thalassemia major

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Geetanjali Jindal ◽  
Prashant Chavan ◽  
Ravinder Kaur ◽  
Shivani Jaswal ◽  
Kamal Kumar Singhal ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Lipid Peroxidation ◽  
Oxidized Ldl ◽  
Thalassemia Major ◽  
Lipid Peroxidation Product ◽  
Oxidative Stress Markers ◽  
Lipoprotein A ◽  
Stress Markers ◽  
Total Antioxidant ◽  
Peroxidation Product

<p>The present study evaluates carotid intimamedia thickness (CIMT) in children with β thalassemia major to assess atherosclerosis and its relation to the underlying proposed causative mechanisms <em>via</em> lipid peroxidation product malondialdehyde (MDA), oxidized lowdensity lipoproteins (LDL), total antioxidant level, and lipid profile. A cross sectional study was conducted on 62 children (31 cases and 31 controls). CIMT by high resolution ultrasound and biochemical parameters <em>i.e.</em>, total cholesterol, triglycerides, high-density lipoproteins, LDL, Oxidized LDL, lipoprotein (a), lipid peroxidation product MDA and total antioxidant were measured in enrolled subjects and compared. In our study, CIMT was significantly increased in β thalassemia major patients’ as compared to healthy controls. Mean CIMT in cases was 0.69±0.11 mm and in controls 0.51±0.07 mm. Mean oxidized LDL (EU/mL) in cases 39.3±34.4 (range 14.4 to 160) was significantly raised (P=0.02, t test) as compared to controls 23.9±13.4 (range 12 to 70). In our study we found MDA levels (nmol/mL) to be increased in β thalassemia patients as compared to controls. Mean MDA was 10.0±3.27 (4.41 to 17.48) in cases while in controls was 6.87±4.55 (1.5 to 17.9). Our study results show CIMT as an early marker of atherogenesis in β thalassemia major. Oxidative stress markers are also increased in β thalassemia major patients and lipoprotein (a) shows a positive correlation with CIMT. The present study points towards various atherogenetic mechanisms in β thalassemia major.</p><p> </p><p>本研究评价β重型地中海贫血患儿颈动脉内膜中层厚度（CIMT），以评估动脉粥样硬化，以及与潜在通过血脂过氧化反应产物丙二醛（MDA）、氧化低密度脂蛋白（LDL）、总抗氧化水平和血脂谱所提出致病机制之间的关系。 在62名儿童（31例病例和31例对照）中进行了一项横断面研究。 在入组受试者中通过高分辨率超声和生化指标（即总胆固醇、甘油三酯、高密度脂蛋白、LDL、氧化LDL，脂蛋白（a）、血脂过氧化产物MDA和总抗氧化剂）测量CIMT并进行比较。 在我们的研究中，CIMT在β重型地中海贫血患者中比健康对照组显著增加。 病例组中的平均CIMT为0.69±0.11 mm，对照组0.51±0.07 mm。病例组中平均氧化LDL（EU/mL）为39.3±34.4（从14.4到160的范围）与对照组的23.9±13.4（12至70的范围）相比显著升高（P = 0.02，t检验）。 在我们的研究中，我们发现β地中海贫血患者中的MDA水平（nmol/mL）比对照组更高。 病例组中的平均MDA为10.0±3.27（4.41至17.48），而对照组为6.87±4.55（1.5到17.9）。 我们的研究结果表明，CIMT是β重型地中海贫血动脉粥样硬化的早期标记物。 氧化应激标记物在β重型地中海贫血患者中也有增加，脂蛋白（a）显示出与CIMT呈正相关。 本研究针对β重型地中海贫血中的各种动脉粥样硬化机制。</p>

scholarly journals Atypical haemolytic uremic syndrome secondary to acute pancreatitis: a unique presentation

2019 ◽  
Vol 12 (9) ◽  
pp. e230822 ◽  
Author(s):  
Jacob Barish ◽  
Pallavi Kopparthy ◽  
Bradley Fletcher
Keyword(s):  
Renal Failure ◽  
Acute Pancreatitis ◽  
Early Recognition ◽  
Standard Of Care ◽  
Timely Manner ◽  
Haemolytic Uremic Syndrome ◽  
Complement Dysregulation ◽  
Atypical Haemolytic Uraemic Syndrome ◽  
Uremic Syndrome ◽  
To Receive

Atypical haemolytic uraemic syndrome (aHUS) is a disease of complement dysregulation and can be fatal if not treated in a timely manner. Although normally associated with triggers such as infection or pregnancy, this case demonstrates acute pancreatitis as the triggering event. The patient’s initial presentation of thrombocytopaenia and acute renal failure was first attributed to a systemic inflammatory response syndrome due to pancreatitis, but with detailed history and further laboratory investigation, we were able to show that patient was having symptoms associated with aHUS. On early recognition of aHUS, this patient was able to receive the proper standard of care with eculizumab and had a full recovery while preventing renal failure. When patients present with thrombocytopaenia and renal failure in acute pancreatitis, we want to ensure physicians keep aHUS on the differential.

Sign in / Sign up

Export Citation Format

Share Document