scholarly journals Lipodystrophy - A Rare Condition with Serious Metabolic Abnormalities

Rare Diseases ◽  
2020 ◽  
Author(s):  
Long Hoa Chung ◽  
Yanfei Qi
Keyword(s):  
Rare Condition ◽  
Metabolic Abnormalities

Severe Antithrombin III Deficiency in an Infant Associated with Multiple Arterial and Venous Thromboses

1976 ◽  
Vol 36 (03) ◽  
pp. 495-502 ◽  
Author(s):  
Geoffrey Mendelsohn ◽  
Edward D. Gomperts ◽  
Dennis Gurwitz
Keyword(s):  
Antithrombin Iii ◽  
Adult Life ◽  
Rare Condition ◽  
Male Infant ◽  
Liver Cells ◽  
Liver Pathology ◽  
Fixed Tissue ◽  
Formalin Fixed Tissue ◽  
First Case ◽  
At Iii

SummaryInherited antithrombin III (AT-II, heparin cofactor) deficiency is a rare condition, presenting with thrombotic disease in adult life. This paper reports an 8 months old South African Black male infant with multiple large vessel venous and arterial thromboses, and E. coli septicaemia. This was associated with an extremely low plasma AT-II level. Micronodular cirrhosis and intracytoplasmic hyaline globules in the liver cells were present. These globules were eosinophilic, and PAS-positive after diastase. They measured approximately 5 μ to 30 μ in diameter, occurred singly in the liver cells and were located mainly in the periportal areas. The histological findings in the liver are similar to those observed in α1-antitrypsin (AAT) deficiency in which the intracytoplasmic globules represent accumulation of altered AAT. Immunochemical studies carried out on formalin fixed tissue failed to detect cross reaction material with anti-α1 antitrypsin or anti-AT III antiserum. This is the first case report of AT-III deficiency presenting in infancy. It is also the first case associated with distinctive liver pathology.The available data presented are insufficient to distinguish between an inborn defect and acquired causes of the severely depressed AT-III plasma level and the distinctive liver pathology.

Free-Floating Thrombus in the Distal Internal Carotid Artery Causing a Stroke

2020 ◽  
Author(s):  
Spyros Papadoulas ◽  
Konstantinos Moulakakis ◽  
Natasa Kouri ◽  
Petros Zampakis ◽  
Stavros K. Kakkos
Keyword(s):  
Carotid Artery ◽  
Internal Carotid Artery ◽  
Medical Management ◽  
Internal Carotid ◽  
Treatment Strategies ◽  
Rare Condition ◽  
Residual Stenosis ◽  
Floating Thrombus ◽  
Distal Internal Carotid Artery ◽  
Carotid Bulb

AbstractWe present a patient suffering from a stroke with a free-floating thrombus extending up to the distal internal carotid artery. The thrombus was totally resolved after a 2-week anticoagulation regimen without leaving behind any severe residual stenosis in the carotid bulb. The optimal treatment of this rare condition remains uncertain. We report some important treatment strategies that have been used in the literature, emphasizing the anticoagulation as the mainstay of therapy. Immediate surgical and interventional manipulations carry the risk of thrombus dislodgement and embolization and should be considered if there are recurrent symptoms despite medical management.

Metabolic abnormalities in patients with chronic psychiatric disorders receiving long-term psychopharmacological treatment

2005 ◽  
Vol 38 (05) ◽  
Author(s):  
B Reisinger ◽  
E Mueller ◽  
B Kropp-Hartmann ◽  
D Wölflick ◽  
C Zimmerer ◽  
...  
Keyword(s):  
Psychiatric Disorders ◽  
Metabolic Abnormalities ◽  
Psychopharmacological Treatment

Fournier's gangrene as Amyand's hernia complication

2019 ◽  
Vol 98 (7) ◽  
pp. 291-296
Keyword(s):  
Case Report ◽  
Case Reports ◽  
Rare Condition ◽  
Sporadic Case ◽  
Fournier’S Gangrene ◽  
Amyand’S Hernia ◽  
Fournier's Gangrene ◽  
Randomized Controlled Studies ◽  
Based Medicine ◽  
Hernia Complication

Introduction: Fournier’s gangrene is a rare but fast deteriorating and serious condition with high mortality. In most cases, it is characterized as necrotizing fasciitis of the perineum and external genitals. Amyand’s hernia is a rare condition where the appendix is contained in the sac of an inguinal hernia. Inflammatory alterations in the appendix account only for 0.1 % of the cases when Amyand’s hernia is verified. Fournier’s gangrene as a complication of a late diagnosis of appendicitis located in the inguinal canal is described in the literature as rare case reports. Case report: The case report of a 70-year-old patient with Fournier’s gangrene resulting from gangrenous appendicitis of Amyand’s hernia. Conclusion: Fournier’s gangrene as a complication of Amyand’s hernia is a rare condition. Only sporadic case reports thereof can be found in the literature. Because of the rarity of this pathology and the lack of randomized controlled studies, it is difficult to determine the optimal treatment according to the principles of evidence-based medicine. An appropriate approach for this condition appears to be the combination of guidelines developed in Amyand’s therapy according to Losanoff and Basson, along with the recommended “gold standard” therapy for Fournier’s gangrene. This means early and highly radical surgical debridement, adequate antibiotic therapy and intensive care.

Metabolic abnormalities of obesity were more severe in men than in women

2020 ◽  
Author(s):  
Elnoza Adilkhodjaeva ◽  
Zulaykho Shamansurova ◽  
Ismailov Said
Keyword(s):  
Metabolic Abnormalities

An Epicardial Mesothelial Cyst Attached to the Ascending Aorta

2015 ◽  
Vol 18 (5) ◽  
pp. 194
Author(s):  
Yoshihito Suenaga ◽  
Tomonobu Abe ◽  
Masato Mutsuga ◽  
Yoshimori Araki ◽  
Akihiko Usu
Keyword(s):  
Coronary Artery ◽  
Coronary Artery Bypass Surgery ◽  
Bypass Surgery ◽  
Artery Bypass ◽  
Mesothelial Cell ◽  
Rare Condition ◽  
Ascending Aorta ◽  
Mesothelial Cyst ◽  
Great Vessels ◽  
Insight Into

An epicardial mesothelial cyst, which can be defined as a mesothelial cyst attached to the epicardium surrounding the heart and the great vessels inside the pericardial sac, is a rare condition. We herein report a case of epicardial cyst, which was attached to the ascending aorta. The patient was a 76-year-old male who underwent coronary artery bypass surgery, and the cyst was found incidentally. It was approximately 5 cm in diameter, and histological examination confirmed mesothelial cell origin. The ascending aorta has not previously been reported as the origin of an epicardial mesothelial cyst. This case gives new insight into the embryology of these cysts

Autoimmune Pancreatitis – Diagnosis, Management and Longterm Follow-up

2014 ◽  
Vol 23 (2) ◽  
pp. 179-185 ◽  
Author(s):  
Suvadip Chatterjee ◽  
Kofi W. Oppong ◽  
John S. Scott ◽  
Dave E. Jones ◽  
Richard M. Charnley ◽  
...  
Keyword(s):  
Autoimmune Pancreatitis ◽  
Rare Condition ◽  
Team Approach ◽  
Diagnostic Challenge ◽  
Multisystem Disorder ◽  
North East ◽  
The North ◽  
Work Up ◽  
Igg4 Level

Background & Aims: Autoimmune pancreatitis (AIP) is a fibroinflammatory condition affecting the pancreas and could present as a multisystem disorder. Diagnosis and management can pose a diagnostic challenge in certain groups of patients. We report our experience of managing this condition in a tertiary pancreaticobiliary centre in the North East of England.Methods: Patients were identified from a prospectively maintained database of patients diagnosed with AIP between 2005 and 2013. Diagnosis of definite/probable AIP was based on the revised HISORt criteria. When indicated, patients were treated with steroids and relapses were treated with azathioprine. All patients have been followed up to date.Results: Twenty-two patients were diagnosed with AIP during this period. All patients had pancreatic protocol CT performed while some patients had either MR or EUS as part of the work up. Fourteen out of 22 (64%) had an elevated IgG4 level (mean: 10.9 g/L; range 3.4 - 31 g/L). Four (18%) patients underwent surgery. Extrapancreatic involvement was seen in 15 (68%) patients, with biliary involvement being the commonest. Nineteen (86%) were treated with steroids and five (23%) required further immunosuppression for treatment of relapses. The mean follow up period was 36.94 months (range 7 - 94).Conclusion: Autoimmune pancreatitis is being increasingly recognized in the British population. Extrapancreatic involvement, particularly extrahepatic biliary involvement seems to be a frequent feature.Diagnosis should be based on accepted criteria as this significantly reduces the chances of overlooking malignancy. Awareness of this relatively rare condition and a multi-disciplinary team approach will help us to diagnose and treat this condition more efiectively thereby reducing unnecessary interventions.

A Rare Case of Congenital Missing Mandibular Second Molar: Report and Review of Literature

2020 ◽  
Author(s):  
Deepashri H Kambalimath
Keyword(s):  
Tooth Development ◽  
Rare Condition ◽  
Review Of Literature ◽  
Indian Literature ◽  
Missing Teeth ◽  
Second Molar ◽  
The World ◽  
Mandibular Second Molar ◽  
Sporadic Cases ◽  
Genetic And Environmental Factors

Congenital missing permanent second molar is an extremely rare condition. Non syndromic mandibular second molar agenesis associated with other anomalies has occasionally been reported in literature, but isolated sporadic cases are rarely observed. Number of interactions between genetic and environmental factors during the process of tooth development might be the causative etiology for agenesis. This report presents an isolated case of hypodontia with absence of bilateral mandibular second molar agenesis in a healthy 18 year old female patient is presented and literature review on prevalence of most missing teeth with incidence of missing second molar in various regions of the world and in various regions of Indian continent is presented. No such case has been reported in Indian literature so far.

Sign in / Sign up

Export Citation Format

Share Document