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Current Pediatric Reviews 2019Alpha1-antitrypsin (AAT) deficiency is a common, but an underdiagnosed genetic condition, affecting 1 in 1500 individuals. It can present insidiously with liver disease...
IMPORTANCE
Alpha1-antitrypsin (AAT) deficiency is a common, but an underdiagnosed genetic condition, affecting 1 in 1500 individuals. It can present insidiously with liver disease in children. Although clinical practice guidelines exist for the management of AAT deficiency, especially with regards to pulmonary involvement, there are no published recommendations that specifically relate to the management of the liver disease and monitoring for lung disease associated with this condition, particularly in children.
OBJECTIVE
To review the literature on the management of AAT deficiency-associated liver disease in adults and children.
EVIDENCE REVIEW
A systematic search for articles indexed in PubMed and published was undertaken. Some earlier selected landmark references were included in the review. Search terms included: "alpha1-antitrypsin deficiency"; "liver disease"; "end-stage liver disease"; "liver transplantation" and "preventative management". Recommendations for the management of children with suspected or confirmed AAT deficiency were made according to the Strength of Recommendation Taxonomy scale.
FINDINGS
Liver complications arising from AAT deficiency result from the accumulation of mutated AAT protein within hepatocytes. Liver disease occurs in 10% of children, manifested by cholestasis, pruritus, poor feeding, hepatomegaly, and splenomegaly, but the presentation is highly variable. A diagnostic test for AAT deficiency is recommended for these children. Baseline liver function tests should be obtained to assess for liver involvement; however, the only curative treatment for AAT deficiency-associated liver disease is organ transplantation. Conclusion and Relevance: There should be a greater vigilance for AAT deficiency testing among pediatricians. Diagnosis should prompt assessment of liver involvement. Children with AATdeficiency- associated liver disease should be referred to a liver specialist and monitored throughout their lifetimes for the symptoms of AAT-deficiency-related pulmonary involvement.
Topics: Adolescent; Adult; Child; Child, Preschool; Female; Humans; Infant; Liver; Liver Diseases; Liver Transplantation; Male; Transition to Adult Care; alpha 1-Antitrypsin Deficiency
PubMed: 30421678
DOI: 10.2174/1573396314666181113094517 -
World Journal of Gastroenterology Sep 2017To provide the overall spectrum of gastrosplenic fistula (GSF) occurring in lymphomas through a systematic review including a patient at our hospital. (Review)
Review
AIM
To provide the overall spectrum of gastrosplenic fistula (GSF) occurring in lymphomas through a systematic review including a patient at our hospital.
METHODS
A comprehensive literature search was performed in the MEDLINE database to identify studies of GSF occurring in lymphomas. A computerized search of our institutional database was also performed. In all cases, we analyzed the clinicopathologic/radiologic features, treatment and outcome of GSF occurring in lymphomas.
RESULTS
A literature search identified 25 relevant studies with 26 patients. Our institutional data search added 1 patient. Systematic review of the total 27 cases revealed that GSF occurred mainly in diffuse, large B-cell lymphoma ( = 23), but also in diffuse, histiocytic lymphoma ( = 1), Hodgkin's lymphoma ( = 2), and NK/T-cell lymphoma ( = 1, our patient). The common clinical presentations are constitutional symptoms ( = 20) and abdominal pain ( = 17), although acute gastrointestinal bleeding ( = 6) and infection symptoms due to splenic abscess ( = 3) are also noted. In all patients, computed tomography scanning was very helpful for diagnosing GSF and for evaluating the lymphoma extent. GSF could occur either post-chemotherapy ( = 10) or spontaneously ( = 17). Surgical resection has been the most common treatment. Once patients have recovered from the acute illness status after undergoing surgery, their long-term outcome has been favorable.
CONCLUSION
This systematic review provides an overview of GSF occurring in lymphomas, and will be helpful in making physicians aware of this rare disease entity.
Topics: Abdominal Abscess; Abdominal Pain; Acute Disease; Antineoplastic Combined Chemotherapy Protocols; Dialysis; Gastric Fistula; Gastrointestinal Hemorrhage; Hepatomegaly; Herpesvirus 4, Human; Humans; Lymphoma; Lymphoma, Extranodal NK-T-Cell; Male; Middle Aged; Neoplasm Recurrence, Local; Positron-Emission Tomography; RNA, Viral; Spleen; Splenectomy; Splenic Diseases; Splenomegaly; Stem Cell Transplantation; Stomach; Tomography, X-Ray Computed; Transplantation, Autologous; Treatment Outcome; Tumor Lysis Syndrome
PubMed: 29085199
DOI: 10.3748/wjg.v23.i35.6491 -
Expert Review of Molecular Diagnostics May 2021Visceral leishmaniasis (VL) is a systemic and neglected parasitic disease. Its main symptoms are fever, splenomegaly with or without hepatomegaly, and anemia, however,...
INTRODUCTION
Visceral leishmaniasis (VL) is a systemic and neglected parasitic disease. Its main symptoms are fever, splenomegaly with or without hepatomegaly, and anemia, however, most individuals remain asymptomatic. Due to the lack of a gold standard and the limitations of current diagnostic techniques, where parasitology is ethically unfeasible for individuals without symptoms and serological tests do not differentiate between past and present disease, molecular methodologies are the most suitable.
AREAS COVERED
We performed a systematic review analyzing the molecular techniques based on PCR used, so far, to detect asymptomatic cases of VL in humans. Structured searches were carried out on PubMed, LILACS, Scopus, and Web of Science databases without time and language restrictions. Two reviewers evaluated the studies, performed data extraction, and quality assessment by assigning scores.
EXPERT OPINION
qPCR using RNA targets can be used in the diagnosis of asymptomatic cases of human VL, due to its characteristics. We recommend further studies to analyze the methodology, mainly observing the use of different rRNA targets. Therefore, we hope that this technique contributed to the construction of public policies that address the diagnosis and handling of asymptomatic patients.
Topics: Humans; Leishmaniasis, Visceral; Nucleic Acid Amplification Techniques
PubMed: 33719847
DOI: 10.1080/14737159.2021.1900736 -
Cardiovascular and Interventional... Oct 2013Colonoscopy is reported to be a safe procedure that is routinely performed for the diagnosis and treatment of colorectal diseases. Splenic rupture is considered to be a... (Review)
Review
PURPOSE
Colonoscopy is reported to be a safe procedure that is routinely performed for the diagnosis and treatment of colorectal diseases. Splenic rupture is considered to be a rare complication with high mortality and morbidity that requires immediate diagnosis and management. Nonoperative management (NOM), surgical treatment (ST), and, more recently, proximal splenic artery embolization (PSAE) have been proposed as treatment options. The goal of this study was to assess whether PSAE is safe even in high-grade ruptures.
METHODS
We report two rare cases of post colonoscopy splenic rupture. A systematic review of the literature from 2002 to 2010 (first reported case of PSAE) was performed and the three types of treatment compared.
RESULTS
All patients reviewed (77 of 77) presented with intraperitoneal hemorrhage due to isolated splenic trauma. Splenic rupture was high-grade in most patients when grading was possible. Six of 77 patients (7.8 %) were treated with PSAE, including the 2 cases reported herein. Fifty-seven patients (74 %) underwent ST. NOM was attempted first in 25 patients with a high failure rate (11 of 25 [44 %]) and requiring a salvage procedure, such as PSAE or ST. Previous surgery (31 of 59 patients), adhesions (10 of 13), diagnostic colonoscopies (49 of 71), previous biopsies or polypectomies (31 of 57) and female sex (56 of 77) were identified as risk factors. In contrast, splenomegaly (0 of 77 patients), medications that increase the risk of bleeding (13 of 30) and difficult colonoscopies (16 of 51) were not identified as risk factors. PSAE was safe and effective even in elderly patients with comorbidities and those taking medications that increase the risk of bleeding, and the length of the hospital stay was similar to that after ST.
CONCLUSION
We propose a treatment algorithm based on clinical and radiological criteria. Because of the high failure rate after NOM, PSAE should be the treatment of choice to manage grade I through IV splenic ruptures after colonoscopy in hemodynamically stabilized patients.
Topics: Aged; Colonoscopy; Embolization, Therapeutic; Female; Hemoperitoneum; Hemorrhage; Humans; Male; Risk Factors; Spleen; Splenic Artery; Tomography, X-Ray Computed
PubMed: 23262476
DOI: 10.1007/s00270-012-0539-1 -
Pediatric Radiology Feb 2021We present a practical approach to imaging in suspected biliary atresia, an inflammatory cholangiopathy of infancy resulting in progressive fibrosis and obliteration of...
We present a practical approach to imaging in suspected biliary atresia, an inflammatory cholangiopathy of infancy resulting in progressive fibrosis and obliteration of extrahepatic and intrahepatic bile ducts. Left untreated or with failure of the Kasai procedure, biliary atresia progresses towards biliary cirrhosis, end-stage liver failure and death by age 3. Differentiation of biliary atresia from other nonsurgical causes of neonatal cholestasis is challenging because there is no single method for diagnosing biliary atresia, and clinical, laboratory and imaging features of this disease overlap with those of other causes of neonatal cholestasis. Concerning imaging, our systematic literature review shows that ultrasonography is the main tool for pre- and neonatal diagnosis. Key prenatal features, when present, are non-visualisation of the gallbladder, cyst in the liver hilum, heterotaxy syndrome and irregular gallbladder walls. Postnatal imaging features have a very high specificity when present, but a variable sensitivity. Triangular cord sign and abnormal gallbladder have the highest sensitivity and specificity. The presence of macro- or microcyst or polysplenia syndrome is highly specific but less sensitive. The diameter of the hepatic artery and hepatic subcapsular flow are less reliable. When present in the context of acholic stools, dilated intrahepatic bile ducts rule out biliary atresia. Importantly, a normal US exam does not rule out biliary atresia. Signs of chronic hepatopathy and portal hypertension (portosystemic derivations such as patent ductus venosus, recanalised umbilical vein, splenomegaly and ascites) should be actively identified for - but are not specific for - biliary atresia.
Topics: Biliary Atresia; Child, Preschool; Cholestasis; Female; Humans; Hypertension, Portal; Infant; Infant, Newborn; Magnetic Resonance Imaging; Pregnancy; Ultrasonography; Ultrasonography, Prenatal
PubMed: 33201318
DOI: 10.1007/s00247-020-04840-9 -
British Journal of Haematology Apr 2021The majority of the global population of sickle cell disease (SCD) patients resides in Africa. Individuals with this condition are at great risk of serious infections...
The majority of the global population of sickle cell disease (SCD) patients resides in Africa. Individuals with this condition are at great risk of serious infections and early mortality secondary to splenic dysfunction without preventative measures. This review investigated the spectrum of splenic complications encountered in SCD among populations in Africa. We systematically searched several databases for all articles published through March 3, 2020. We included 55 studies from 14 African countries. This review reveals the difference in frequency of splenic complications in SCD in Africa when compared with their counterparts in the United State and Europe. While several studies (n = 45) described splenomegaly with a prevalence of 12% to 73% among children, and 4% to 50% among adults with HbSS, the reported prevalence for acute splenic sequestration crisis (n = 6 studies) and hypersplenism (n = 4 studies) was <10% and <5% respectively. A total of 30 surgical splenectomy was reported across eight studies. Only two (3.7%) studies provided data on spleen function. A conflicting pattern was observed amongst studies that evaluated the relationship between splenomegaly and the presence of bacterial and malaria infections. This review reveals the paucity of studies describing the role of SCD-induced splenic dysfunction in morbidity and infection related mortality in Africa.
Topics: Adolescent; Adult; Africa; Anemia, Sickle Cell; Bacterial Infections; Case-Control Studies; Child; Child, Preschool; Female; Hemoglobin, Sickle; Humans; Hypersplenism; Malaria; Male; Middle Aged; Prevalence; Retrospective Studies; Splenectomy; Splenic Diseases; Splenic Rupture; Splenomegaly
PubMed: 33161568
DOI: 10.1111/bjh.17179 -
Surgery Sep 2020Pancreatoduodenectomy with synchronous resection of the portal vein/superior mesenteric vein confluence may result in the development of left-sided portal hypertension....
BACKGROUND
Pancreatoduodenectomy with synchronous resection of the portal vein/superior mesenteric vein confluence may result in the development of left-sided portal hypertension. Left-sided portal hypertension presents with splenomegaly and varices and may cause severe gastrointestinal bleeding. The aim of the study is to review the incidence, treatment, and preventive strategies of left-sided portal hypertension.
METHODS
A systematic literature search was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement to identify all studies published up to September 30, 2019 reporting data on patients with left-sided portal hypertension after pancreatoduodenectomy with venous resection.
RESULTS
Eight articles including 829 patients were retrieved. Left-sided portal hypertension occurred in 7.7% of patients who had splenic vein preservation and 29.4% of those having splenic vein ligation. Fourteen cases of gastrointestinal bleeding owing to left-sided portal hypertension were reported at a mean interval of 28 months from pancreatoduodenectomy. Related mortality at 1 month was 7.1%. Treatment of left-sided portal hypertension consisted of splenectomy in 3 cases (21%) and colectomy in 1 (7%) case, whereas radiologic, endoscopic procedures or conservative treatments were effective in the other cases (71%).
CONCLUSION
Left-sided portal hypertension represents a potentially severe complication of pancreatoduodenectomy with venous resection occurring at greater incidence when the splenic vein is ligated and not reimplanted. Left-sided portal hypertension-related gastrointestinal bleeding although rare can be managed depending on the situation by endoscopic, radiologic procedures or operative intervention with low related mortality.
Topics: Carcinoma, Pancreatic Ductal; Colectomy; Conservative Treatment; Gastrointestinal Hemorrhage; Humans; Hypertension, Portal; Incidence; Ligation; Mesenteric Veins; Pancreatic Neoplasms; Pancreaticoduodenectomy; Portal Vein; Postoperative Complications; Splenectomy; Splenomegaly; Treatment Outcome
PubMed: 32600882
DOI: 10.1016/j.surg.2020.04.030 -
Tropical Doctor Jan 2021Visceral leishmaniasis is a tropical parasitic disease caused by the species of the genus The clinical picture includes fever, splenomegaly, leucopenia, anaemia and...
Visceral leishmaniasis is a tropical parasitic disease caused by the species of the genus The clinical picture includes fever, splenomegaly, leucopenia, anaemia and hypergammaglobulinaemia. There may also be a drop in plasma fibrinogen levels or an increase in plasma fibrinolytic activity. Furthermore, visceral leishmaniasis may be the trigger for secondary haemophagocytic lymphohistiocytosis. On the other hand, disseminated intravascular coagulation may also result. The International Society of Thrombosis and Hemostasis has recommended the use of a scoring system for disseminated intravascular coagulation. An association between visceral leishmaniasis and consumption coagulopathy is not frequent. Our systematic literature review from 1967 to 2019 pointed to the report of only 16 cases. Our case demonstrates that it is necessary to be aware of the existence of this association.
Topics: Adult; Disseminated Intravascular Coagulation; Humans; Leishmania infantum; Leishmaniasis, Visceral; Male
PubMed: 33108965
DOI: 10.1177/0049475520967239 -
International Journal of Hematology Feb 2015A systematic review and meta-analysis were carried out to compare the clinical features and outcomes in calreticulin (CALR)-mutated and JAK2V617F patients of essential... (Meta-Analysis)
Meta-Analysis
A systematic review and meta-analysis were carried out to compare the clinical features and outcomes in calreticulin (CALR)-mutated and JAK2V617F patients of essential thrombocythemia (ET). Compared with JAK2V617F ET patients, CALR-mutated ET was associated with a clear increase in male predominance [OR 1.71 (95 % CI 1.28-2.28), P < 0.001, I(2)) = 51.6] and a significant decrease in thrombosis events [OR 0.40 (95 % CI 0.32-0.50), P < 0.001, I(2) = 0]. No difference was observed in hemorrhagic events [OR 0.86 (95 % CI 0.52-1.42), P = 0.558, I(2) = 0] or splenomegaly [OR 0.8 (95 % CI 0.55-1.14), P = 0.217 I (2) = 42.9]. CALR-mutated ET did not show better overall survival (OS) [HR 1.03 (95 % CI 0.74-1.44) P = 0.854, I(2) = 47.6] but showed better thrombosis-free survival (TFS) [HR 0.62 (0.44-0.87), P = 0.005, I(2) = 0] than JAK2V617F ET. In conclusion, CALR-mutated ET and JAK2V617F ET may represent two different subgroups of essential thrombocythaemia with respect to clinical features and outcomes.
Topics: Calreticulin; Humans; Janus Kinase 2; Mutation; Patient Outcome Assessment; Prognosis; Thrombocythemia, Essential
PubMed: 25540065
DOI: 10.1007/s12185-014-1724-6