scholarly journals Disymptomatic Wiskott Aldrich Syndrome: Overcoming a Diagnostic Challenge.

2020 ◽  
pp. 1-6
Keyword(s):  
Liver Disease ◽  
Skin Disorder ◽  
Severe Form ◽  
Rare Occurrence ◽  
Rare Disorders ◽  
Diagnostic Challenge ◽  
Wiskott Aldrich Syndrome ◽  
Allergic Skin ◽  
Medical Reports ◽  
Apparently Healthy

Abstract Background: There are three main forms of the Wiskott Aldrich syndrome, the classic severe form, the disymptomatic form without cutaneous signs (Harzheim and colleagues, 1965) and a milder variant X-linked thrombocytopenia and neutropenia. The aim of this paper is to describe the very rare occurrence of disymptomatic form of Wiskott Aldrich syndrome in two Iraqi brothers and the diagnostic challenge associated with such cases. Patients and methods: The case of two Yezidis brothers referred because each boy had two different medical reports from Hevi Teaching Children Hospital in Dohuk, Kurdistan Iraq. Two of these medical reports recommended sending them outside Kurdistan or outside Iraq for the diagnosis and management of their illnesses. Each of these medical reports was signed by a committee that included four consultant doctors. Results: The two brothers had chronic illness of more than two years duration characterized by thrombocytopenia, leucopenia, splenomegaly, draining ear (more prominent in the older brother) and chronic liver disease (more prominent in the younger bladder). The parents were consanguineous. The father was apparently healthy, but the mother was having allergic skin disorder. The boys had an older brother who died at the age of thirteen. The two patients have four healthy sisters aged 18, 15, 10 and 8 years respectively. Conclusion: This paper demonstrates that when it comes to the diagnostic challenges associated with rare disorders, obscurity, uncertainty and complexities can be transformed to a crystal-clear diagnosis in the hands of the expert.

scholarly journals Disymptomatic Wiskott Aldrich Syndrome: Overcoming a Diagnostic Challenge.

2020 ◽  
pp. 1-6
Keyword(s):  
Liver Disease ◽  
Skin Disorder ◽  
Severe Form ◽  
Rare Occurrence ◽  
Rare Disorders ◽  
Diagnostic Challenge ◽  
Wiskott Aldrich Syndrome ◽  
Allergic Skin ◽  
Medical Reports ◽  
Apparently Healthy

Abstract Background: There are three main forms of the Wiskott Aldrich syndrome, the classic severe form, the disymptomatic form without cutaneous signs (Harzheim and colleagues, 1965) and a milder variant X-linked thrombocytopenia and neutropenia. The aim of this paper is to describe the very rare occurrence of disymptomatic form of Wiskott Aldrich syndrome in two Iraqi brothers and the diagnostic challenge associated with such cases. Patients and methods: The case of two Yezidis brothers referred because each boy had two different medical reports from Hevi Teaching Children Hospital in Dohuk, Kurdistan Iraq. Two of these medical reports recommended sending them outside Kurdistan or outside Iraq for the diagnosis and management of their illnesses. Each of these medical reports was signed by a committee that included four consultant doctors. Results: The two brothers had chronic illness of more than two years duration characterized by thrombocytopenia, leucopenia, splenomegaly, draining ear (more prominent in the older brother) and chronic liver disease (more prominent in the younger bladder). The parents were consanguineous. The father was apparently healthy, but the mother was having allergic skin disorder. The boys had an older brother who died at the age of thirteen. The two patients have four healthy sisters aged 18, 15, 10 and 8 years respectively. Conclusion: This paper demonstrates that when it comes to the diagnostic challenges associated with rare disorders, obscurity, uncertainty and complexities can be transformed to a crystal-clear diagnosis in the hands of the expert.

Prevalence, diagnosis and treatment with 3 different statins of non-alcoholic fatty liver disease/non-alcoholic steatohepatitis in military personnel. Do genetics play a role?

2020 ◽  
Vol 18 ◽  
Author(s):  
Georgios Sfikas ◽  
Michael Psallas ◽  
Charalambos Koumaras ◽  
Konstantinos Imprialos ◽  
Evangelos Perdikakis ◽  
...  
Keyword(s):  
Liver Disease ◽  
Fatty Liver ◽  
Military Personnel ◽  
Fatty Liver Disease ◽  
Exercise Group ◽  
Severe Form ◽  
Laboratory Evaluation ◽  
Alcoholic Fatty Liver ◽  
Alcoholic Steatohepatitis ◽  
Alcoholic Fatty Liver Disease

Background: Non-alcoholic fatty liver disease (NAFLD) and its severe form, non-alcoholic steatohepatitis (NASH), are major health problems worldwide. Genetics may play a role in the pathogenesis of NAFLD/NASH. Aim: To investigate the prevalence of NAFLD/NASH in 5,400 military personnel and evaluate the effect of treatment with 3 statins on NAFLD/NASH using 2 non-invasive scores [NAFLD Activity Score (NAS); Fibrosis-4 score (FIB-4)]. Methods: During the mandatory annual medical check-up, military personnel underwent a clinical and laboratory evaluation. Participants with NAFLD/NASH were randomised to 4 groups (n=151 each): dietexercise, atorvastatin, rosuvastatin or pitavastatin for 1 year (i.e. until the next routine evaluation). Results: From all the participants, 613 had NAFLD/NASH (prevalence 11.3 vs 39.8% in the general population, p<0.001); 604 consented to participate in the study. After a year of treatment, the diet-exercise group showed no significant changes in both scores (NAS 4.98 baseline vs 5.62, p=0.07; FIB-4 3.42 vs 3.52, p=0.7). For the atorvastatin group, both scores were reduced (NAS 4.97 vs 1.95, p<0.001, FIB-4 3.56 vs 0.83, p<0.001), for rosuvastatin (NAS 5.55 vs 1.81, p<0.001, FIB-4 3.61 vs 0.79, p<0.001), and for pitavastatin (NAS 4.89 vs 1.99, p<0.001, FIB-4 3.78 vs 0.87, p<0.001). Conclusions : Atorvastatin, rosuvastatin and pitavastatin have a beneficial and safe effect in NAFLD/NASH patients as recorded by the improvement in the NAS (representing NAFLD activity) and FIB-4 (representing liver fibrosis) scores. Since both those with and without NAFLD/NASH shared several baseline characteristics, genetics may play a role in the pathogenesis of NAFLD/NASH and its treatment with statins.

Nonalcoholic Fatty Liver Disease and Cardiovascular Disease: Overlapping Mechanisms

2021 ◽  
Author(s):  
Søren Møller ◽  
Nina Kimer ◽  
Thit Kronborg ◽  
Josephine Grandt ◽  
Jens Dahlgaard Hove ◽  
...  
Keyword(s):  
Cardiovascular Disease ◽  
Liver Disease ◽  
Fatty Liver ◽  
Nonalcoholic Fatty Liver Disease ◽  
Fatty Liver Disease ◽  
Severe Form ◽  
Nonalcoholic Fatty Liver ◽  
The Metabolic Syndrome ◽  
Increased Risk ◽  
Near Future

AbstractNonalcoholic fatty liver disease (NAFLD) denotes a condition with excess fat in the liver. The prevalence of NAFLD is increasing, averaging > 25% of the Western population. In 25% of the patients, NAFLD progresses to its more severe form: nonalcoholic steatohepatitis and >25% of these progress to cirrhosis following activation of inflammatory and fibrotic processes. NAFLD is associated with obesity, type 2 diabetes, and the metabolic syndrome and represents a considerable and increasing health burden. In the near future, NAFLD cirrhosis is expected to be the most common cause for liver transplantation. NAFLD patients have an increased risk of developing cardiovascular disease as well as liver-related morbidity. In addition, hepatic steatosis itself appears to represent an independent cardiovascular risk factor. In the present review, we provide an overview of the overlapping mechanisms and prevalence of NAFLD and cardiovascular disease.

Indicators of the kinin blood system in severe forms of acute respiratory viral infections in children

1982 ◽  
Vol 63 (2) ◽  
pp. 51-52
Author(s):  
V. A. Anokhin ◽  
A. D. Tsaregorodtsev
Keyword(s):  
Viral Infection ◽  
Viral Infections ◽  
Severe Form ◽  
Blood System ◽  
Control Group ◽  
Healthy Children ◽  
Respiratory Viral Infection ◽  
Respiratory Viral Infections ◽  
Acute Respiratory Viral Infection ◽  
Apparently Healthy

The aim of this work was to study the parameters of the components of the kinin blood system in children with severe forms of acute respiratory viral infections (ARVI) with neurotoxicosis syndrome. 55 children with ARVI (aged from 1 to 6 months - 14, from 6 months to 1 year - 18, from 1 to 3 years - 11, from 3 to 7 years - 12). 38 patients were admitted in the first three days of illness, 12 - on 4-5 days and 5 - at a later date. 30 children had a severe form of acute respiratory viral infection and 25 - moderate. Adenovirus infection was diagnosed in 14 patients, influenza - in 16, parainfluenza - in 7, MS-viral infection in 5, mixed viral infection - in 13. The control group consisted of 10 apparently healthy children.

scholarly journals Rare Occurrence of Inhibitors in Von Willebrand Disease: A Case Report

2022 ◽  
Vol 8 ◽  
Author(s):  
Bipin P. Kulkarni ◽  
Kirti Ghargi ◽  
Chandrakala Shanmukhaiah ◽  
Shrimati D. Shetty
Keyword(s):  
Correct Diagnosis ◽  
Severe Form ◽  
Von Willebrand Disease ◽  
Rare Occurrence ◽  
Standard Assay ◽  
Type 3 ◽  
Von Willebrand ◽  
High Degree ◽  
Willebrand Factor ◽  
Inhibitor Titer

Introduction: Type 3 Von Willebrand Disease (VWD) is the least common but the most severe form of a disease, with a prevalence of about 0. 5 to 1 per million in Western countries. The prevalence of type 3 VWD in the developing countries, with a high degree of consanguinity, is about 6 per million. Moreover, due to underdiagnosis of the milder cases, the prevalence of type 3 VWD is about 50% of the cases. Rarely, some patients develop the Von Willebrand Factor (VWF) inhibitors, which may subsequently develop severe anaphylactic reactions on further exposure to the VWF containing factor replacement therapy. The prevalence of inhibitor development in patients with type 3 VWD has been shown to be in the range of 5.8 to 9.5%. In the absence of a gold standard assay for the quantitation of VWF inhibitors, a correct diagnosis and management of these patients are often challenging.Objectives: The objective of this study is to standardize the Bethesda assay for the VWF inhibitors and to estimate the VWD inhibitor titer in two cases of congenital type 3 VWD, which developed the VWF inhibitors.Results and Conclusions: We could successfully standardize the Bethesda assay for the quantitation of VWF inhibitors in two patients with congenital type 3 VWD with inhibitors.

scholarly journals Antidiabetic Therapy in the Treatment of Nonalcoholic Steatohepatitis

2020 ◽  
Vol 21 (6) ◽  
pp. 1907 ◽  
Author(s):  
Yoshio Sumida ◽  
Masashi Yoneda ◽  
Katsutoshi Tokushige ◽  
Miwa Kawanaka ◽  
Hideki Fujii ◽  
...  
Keyword(s):  
Liver Disease ◽  
Nonalcoholic Steatohepatitis ◽  
Body Weight Gain ◽  
Severe Form ◽  
Sglt2 Inhibitors ◽  
Glucagon Receptor ◽  
Nonalcoholic Fatty Liver ◽  
Antidiabetic Therapy ◽  
Sodium Glucose Cotransporter ◽  
Glucagon Like Peptide 1

Liver-related diseases are the third-leading causes (9.3%) of mortality in type 2 diabetes (T2D) in Japan. T2D is closely associated with nonalcoholic fatty liver disease (NAFLD), which is the most prevalent chronic liver disease worldwide. Nonalcoholic steatohepatitis (NASH), a severe form of NAFLD, can lead to hepatocellular carcinoma (HCC) and hepatic failure. No pharmacotherapies are established for NASH patients with T2D. Though vitamin E is established as a first-line agent for NASH without T2D, its efficacy for NASH with T2D recently failed to be proven. The effects of pioglitazone on NASH histology with T2D have extensively been established, but several concerns exist, such as body weight gain, fluid retention, cancer incidence, and bone fracture. Glucagon-like peptide 1 (GLP-1) receptor agonists and sodium-glucose cotransporter 2 (SGLT2) inhibitors are expected to ameliorate NASH and NAFLD (LEAN study, LEAD trial, and E-LIFT study). Among a variety of SGLT2 inhibitors, dapagliflozin has already entered the phase 3 trial (DEAN study). A key clinical need is to determine the kinds of antidiabetic drugs that are the most appropriate for the treatment of NASH to prevent the progression of hepatic fibrosis, resulting in HCC or liver-related mortality without increasing the risk of cardiovascular or renal events. Combination therapies, such as glucagon receptor agonist/GLP-1 or gastrointestinal peptide/GLP-1, are under development. This review focused on antidiabetic agents and future perspectives on the view of the treatment of NAFLD with T2D.

Monoclonal Gammopathy of Unclear Significance in a Child with Wiskott-Aldrich Syndrome: a Rare Occurrence

2019 ◽  
Vol 39 (1) ◽  
pp. 7-10
Author(s):  
Rashmi Rikhi ◽  
Sagar Bhattad ◽  
Ankur Jindal ◽  
Biman Saikia ◽  
Ravinder Garg ◽  
...  
Keyword(s):  
Monoclonal Gammopathy ◽  
Rare Occurrence ◽  
Wiskott Aldrich Syndrome

Polycystic kidney and liver disease: A diagnostic challenge

2015 ◽  
Vol 215 (1) ◽  
pp. 64-65 ◽  
Author(s):  
M. Alves ◽  
A. Miranda ◽  
M. Narciso ◽  
T. Fonseca
Keyword(s):  
Liver Disease ◽  
Polycystic Kidney ◽  
Diagnostic Challenge

scholarly journals Diagnostic Challenge of Hepatopulmonary Syndrome in a Patient with Coexisting Structural Heart Disease

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Jorge M. Hurtado-Cordovi ◽  
Seth Lipka ◽  
Jaspreet Singh ◽  
Ghulamullah Shahzad ◽  
Paul Mustacchia
Keyword(s):  
Liver Disease ◽  
Ventral Hernia ◽  
White Male ◽  
Hepatopulmonary Syndrome ◽  
Structural Heart Disease ◽  
Foramen Ovale ◽  
Diagnostic Challenge ◽  
Breath Sounds ◽  
History Of ◽  
Cirrhotic Patients

Hepatopulmonary syndrome (HPS) is a severe complication seen in advance liver disease. Its prevalence among cirrhotic patients varies from 4–47 percent. HPS exact pathogenesis remains unknown. Patient presents with signs/symptoms of chronic liver disease, and dypsnea of variable severity. Our patient is a 62 years old white male with a known history of chronic hepatitis C, cirrhosis, ascites, and hypothyroidism who presented to GI/liver clinic complaining of 1 episode BRBPR, and exacerbating dypsnea associated with nausea and few episodes of non-bloody vomit. Physical exam showed, icterus, jaundice, few small spider angiomas on the chest, decrease breath sounds bilateral right more than left, and mild tachycardic. Abdominal exam revealed mid-line scar, moderated size ventral hernia, distention, diffused tenderness, and dullness to percussion. Laboratory result: CBC 5.2/13.2/37.6/83, LFTs 83/217/125/5.2/4.7/7.4, Pt 22.6 INR 1.9 PTT35.4. CT scan showed liver cirrhosis, abdominal varices, and moderated ascites collection around ventral hernia. Calculated A-a gradient was 49.5. Echocardiography revealed patent foramen ovale (PFO) with predominant left to right shunt. In our case, existence of paten foramen ovale (PFO) and atelectasis precludes definitive diagnosis of HPS. Presence of cardiopulmonary shunt could be partially responsible for the patient’s dypsnea exacerbation.

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