Abnormal Accumulation Of Fluid Research Articles

CORRELATION BETWEEN ADENOSINE DEAMINASE ACTIVITY IN PLEURAL FLUID AND SERUM OF PATIENTS WITH PLEURAL EFFUSION

Pleural effusion is an abnormal accumulation of fluid in the pleural space resulting from increased production of fluid or decreased resorption of fluid in the pleural space. Pleural effusion can be caused by infectious diseases, malignancies, collagen disease, gastrointestinal disease, heart disease and other causes such as medication. Adenosine Deaminase (ADA) is an enzyme involved in the catabolism of purines. This enzyme can be measured in pleural fluid, serum and other body fluids such as cerebrospinal and ascites fluid. The aim of this study was to analyze the correlation between adenosine deaminase activity in pleural fluid and serum in patients with pleural effusion. This research was an observational study with a cross-sectional design. Examination of ADA activity was performed in pleural fluid and serum. Adenosine deaminase activity was examined using photometric methods (Non-Giusti), using Diazyme reagent by TMS 24i Premium. Subjects were 46 patients with pleural effusion caused by malignancies, tuberculosis and systemic diseases. Mean±SD ADA activity for all pleural effusion samples in serum was 13.037± 8.365 (0.5-34.1) U//L and pleural fluid 30.843± 28.860 U//L (1.3-140.8). No correlation between ADA activity in serum and pleural fluid (r=0.173, p= 0.252) was found in all samples. No correlation between ADA activity in serum and pleural fluis was found in malignancies (r=0.109, p=0.630), tuberculosis (r= 0.366, p=0.123), systemic diseases (r =0.466, p=0.429) and non-tuberculosis group (r=0.126, p=0.532). There was no correlation between pleural fluid ADA activity and serum.

The Sub-microscopic Pathology of Brain Extracellular Space in Some Neuropathological Conditions. A Review

The enlargement and content of perivascular and extracellular spaces in experimental and human material have been reviewed. The human edematous cerebral cortex associated to vascular anomaly, congenital hydrocephalus, brain trauma, and brain tumors were examined by transmission electron microscopy, using cortical biopsies of frontal, parietal, and temporal cortex. In congenital hydrocephalus, the pre-existing extracellular space that features immature cerebral cortex appears notably enlarged and occupied by electron transparent, non-proteinaceous interstitial edema fluid, due to the abnormal accumulation of non-circulating cerebrospinal fluid. In severe human brain trauma associated to subdural or estradural hematomas and brain tumors, the distended extracellular space contains either electron lucid non-proteinaceous edema fluid, and electron dense proteinaceous edema fluid, fibrinoid material, exosomes or extracellular vesicles, extracellular mitochondria, hemorrhagic foci, and non-nervous invading cells, such as phagocytic astrocytes, macrophages, microglia, and monocytes. In brain tumors, the widened extracellular space shows mainly electron dense proteinaceous edema fluid, and bundles of fibrinoid material and extracellular vesicles.

Genetic testing for cystic hygroma

Abstract Cystic hygroma (CH) is characterized by abnormal accumulation of fluid in the region of the fetal neck and is a major anomaly associated with aneuploidy. Morphologically characterized by failure of the lymphatic system to communicate with the venous system in the neck, the clinical manifestations of CH depend on its size and location. Incidence is estimated at one case per 6000-16,000 live births. CH has autosomal dominant or autosomal recessive inheritance. This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

Postoperative Infection in Patients Undergoing Posterior Lumbosacral Spinal Surgery: A Pictorial Guide for Diagnosis and Early Treatment.

Surgical site infections after posterior spinal surgery may lead to spondylodiscitis, pseudarthrosis, correction loss, adverse neurological sequelae, sepsis, and poor outcomes if not treated immediately. Infection rates vary depending on the type and extent of operative procedures, use of instrumentation, and patients' risk factors. Image evaluation is crucial for early diagnosis and should be complementary to clinical routes, laboratory survey, and treatment timing. Magnetic resonance imaging detects early inflammatory infiltration into the vertebrae and soft tissues, including hyperemic changes of edematous marrow, vertebral endplate, and abscess or phlegmon accumulation around the intervertebral disk, epidural, and paravertebral spaces. Aggressive surgical treatment can eradicate infection sources, obtain a stable wound closure, decrease morbidity, and restore spinal integrity. Organ/space infection is defined as any body parts opened to manipulate other than superficial/deep incision. Advanced magnetic resonance imaging evaluating abnormal fluid accumulation, heterogenous contrast enhancement of the endplate erosion due to cage/screw infection is categorized to inform a presumptive diagnosis for early implant salvage. However, patients' defense response, infection severity, bacteriology, treatment timing, spinal stability, and available medical and surgical options must be fully considered. Revision surgery is indicated for pseudarthrosis, implant loosening with correction loss, recalcitrant spondylodiscitis, and adjacent segment diseases for infection control.

Lansoprazole reduces renal cyst in polycystic kidney disease via inhibition of cell proliferation and fluid secretion

Renal cyst development and expansion in autosomal dominant polycystic kidney disease (ADPKD) is mediated by abnormal cyst-ling cell proliferation and fluid accumulation. Liver X receptor (LXR)-activating ligands suppresses renal cyst enlargement by modulation of cysticfibrosis transmembrane conductance regulator (CFTR)-mediated fluid accumulation. Lansoprazole has been reported as agonist of LXR, and shows an anti-proliferative effect in cancer cells. Here, lansoprazole’s pharmacological effect and underlying mechanism on renal cyst development and expansion in in vitro; human ADPKD cyst-lining epithelial cell line and Type I Mardin Darby Canine Kidney (MDCK) cells, and in vivo models was investigated. Lansoprazole inhibited cyst development via inhibition of cell proliferation. In renal cells, lansoprazole’s anti-proliferative effect was mediated by inhibition of mTOR/S6K and extracellular signal-regulated kinase (ERK) signaling proteins. In addition, lansoprazole inhibited CFTR-mediated fluid secretion via reduction of CFTR protein expression. In PCK rats, administering lansoprazole (50 mg/kgBW) for 4 weeks produced significant decreases in the cystic area and improved renal function by reduction of plasma creatinine and blood urea nitrogen. Inhibition of mTOR/S6K, ERK, and CFTR protein expression was observed in PCK rat kidney following lansoprazole treatment. The findings point to potential therapeutic application of lansoprazole in ADPKD.

Canine pericardial effusion — a veterinary nurse's guide

Pericardial effusion is an emergency that all veterinary nurses (VN) in a variety of roles may encounter. It is the abnormal accumulation of fluid in the pericardium, acute or chronic. There are both acquired and congenital causes, but pericardial effusion is most common in male, large/giant breed dogs. It is paramount that the VN has knowledge of the pathophysiology, presenting clinical signs and management so they can best advise the client, care for the patient (to include triage and monitoring), and assist the veterinary surgeon during pericardiocentesis.

Congenital Hydrocephalus in Arar, Northern Saudi Arabia

Background: Congenital hydrocephalus, an important cause of neurologic morbidity and mortality in children, is a medical condition characterized by an abnormal accumulation of cerebrospinal fluid in the brain. Objectives: To estimate the prevalence and the recent progresses in diagnosis of hydrocephalus as well as the changes in epidemiology and treatment outcomes of the disease. Methods: This is a descriptive study involved all neonates born in Maternity and child hospital in Arar city, Northern Saudi Arabia, KSA, during the period from 1 January to 31 December 2017. Among 6000 delivered infant in 2017; there was 23 cases of hydrocephalus. Data was collected by using predesigned questionnaire which include questions designed to fulfill the study objectives. Results: the prevalence of hydrocephalus among studied infants was 0.38%. Consanguinity between parents was reported among 60.9% of the cases. Other congenital anomalies reported, cardiac anomalies 39.1%, spina bifida 17.4% and cleft palate 8.7%. Cause of hydrocephalus was 65.2% hereditary and 34.8% infection (secondary cause). Swelling of the eyelid, increased vascular clarity on the skull, transparent skin in the head, the child's tendency to sleep, disorientation, irritability and nervousness, high crying, weakness of feeding and vomiting, delayed child skills, convulsions, increased size of the head, the sun's sign in the eye and the child is always looking down were the symptoms reported by the cases. 56.5% of the cases had shunt insertion and 43.4% had ordinary medical treatment. 30.4% of the shunt cases were complicated (17.4% had shunt blockage with infection and fever, 13% shunt blockage and 69.6% had other complications). Outcome of the case; 39.1% were stable, 13% worsen and 47.8% died (34.7% died by complications, 8.7% during operation and 4.3% did not receive treatment). Conclusion: The prevalence of hydrocephalus is comparable to that of other countries. More research is recommended because it is probable that the real prevalence of congenital hydrocephalus was underestimated and no account of how often abortions are performed among mothers of hydrocephalic fetuses. So more efforts from the ministry of health is needed.

Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome

BackgroundLymphedema is an abnormal accumulation of interstitial fluid within the tissues. Primary lymphedema is caused by aberrant lymphangiogenesis and it has been historically classified based on age at presentation. Although most cases are sporadic, primary lymphedema may be familial or present in association with chromosomal abnormalities and syndromic disorders. To the best of our knowledge, primary lymphedema has never been described in patients with 22q11.2 deletion syndrome. Methods and resultsWe identified 4 patients with 22q11.2 deletion syndrome and primary lymphedema via our International 22q11.2 Deletion Syndrome Consortium. All patients underwent comprehensive clinical, laboratory and imaging assessments to rule out other causes of lymphedema. All patients had de novo typical deletions and family histories were negative for lymphedema. ConclusionsWe report the novel association of primary lymphedema with 22q11.2 deletion syndrome. Importantly, animal models demonstrated Tbx1 playing a critical role in lymphangiogenesis by reducing Vegfr3 expression in lymphatic endothelial cells. Moreover, the VEGFR3 pathway is essential for lymphangiogenesis with mutations identified in hereditary primary lymphedema. Accordingly, our findings provide a new insight into understanding cellular mechanisms of lymphangiogenesis disorders.

Progress in genetic research on non-immune hydrops fetalis

Non-immune factors are the most common cause of hydrops fetalis, which may manifest as abnormal accumulation of fluid in the body cavities. Hydrops fetalis is a complex condition with a high mortality rate. The prognosis is depending on the underlying disease and is particularly poor in those with chromosomal aberrations or monogenic disorders. In this paper, advance in the research on non-immune hydrops fetalis is reviewed.

Bilateral non-specific pleural effussion

The pleura is a thin, serous membrane made of a visceral internal membrane, covering the lungs and a parietal external membrane, covering the walls of the pleural cavity. Between the two membranes there is a space called the pleural cavity, which contains normal pleural fluid (about 600-700 ml) produced daily by mesothelial cells. The pleural fluid acts as a lubricant, allowing the membranes to slide one to the other during breathing. Pleurisy is an abnormal accumulation of fluid in the pleural cavity and can be divided into exudates and transudations, depending on the biochemical analysis of the aspirated pleural fluid. Among the most common etiologies of a transudative pleural effusion are: congestive heart failure, nephrotic syndrome, cirrhosis and ascites, myxedema, pulmonary embolism, peritoneal dialysis. There are also several etiological possibilities that lead to exudative pleural effusions, such as tuberculosis, bacterial and viral infections, systemic lupus erythematosus, rheumatoid pleurisy, neoplastic diseases (breast cancer, LMNH), drug-induced pleurisy (nitrofurantoin, methotrexate, amiodarone, bromocriptine), pancreatitis, trauma or pulmonary surgery. The main symptoms that characterize this pathology are chest pain that feels like sharp or stabbing, continues or accentuated during cough, and difficulty in breathing (dyspnea), that may be present from the start or may occur during disease progression. From a clinical point of view, we can found dullness to percussion, decreased tactile fremitus, and asymmetrical chest expansion, with diminished or delayed expansion on the side of the effusion, diminished or inaudible breath sounds, and pleural friction rub. Among the methods used to diagnose this pathology are thoracentesis, thoracic radiography, transthoracic and transdiaphragmatic ultrasound, CT and MRI. The treatment is established according to the cause led to the disease.

Hard exudate based severity assessment of diabetic macular edema from retinal fundus images

Diabetic macular edema (DME) is a consequence of diabetic retinopathy characterised by the abnormal accumulation of fluid and protein deposit in the macula region of the retina. Prior disclosure of even a trivial trace of DME is essential as it could consequently lead to blurred vision. DME can be diagnosed by the presence of exudates (glossy lesions) in the retinal fundus images. In this work, OD and macula are detected using morphological operation and hard exudates are segmented. Exudates are classified using early treatment diabetic retinopathy standard as normal, moderate or severe cases. The proposed work also incorporates the extraction of various features from the retinal fundus image. Various textural and exudate features are extracted and fed to a classifier to detect DME. Experiments are performed on a publically available database. Performance is evaluated with metrics like accuracy, sensitivity, specificity and accuracy. The results obtained are promising.

A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice.

Pediatric hydrocephalus is characterized by an abnormal accumulation of cerebrospinal fluid (CSF) and is one of the most common congenital brain abnormalities. However, little is known about the molecular and cellular mechanisms regulating CSF flow in the developing brain. Through whole-genome sequencing analysis, we report that a homozygous splice site mutation in coiled-coil domain containing 39 (Ccdc39) is responsible for early postnatal hydrocephalus in the progressive hydrocephalus (prh) mouse mutant. Ccdc39 is selectively expressed in embryonic choroid plexus and ependymal cells on the medial wall of the forebrain ventricle, and the protein is localized to the axoneme of motile cilia. The Ccdc39prh/prh ependymal cells develop shorter cilia with disorganized microtubules lacking the axonemal inner arm dynein. Using high-speed video microscopy, we show that an orchestrated ependymal ciliary beating pattern controls unidirectional CSF flow on the ventricular surface, which generates bulk CSF flow in the developing brain. Collectively, our data provide the first evidence for involvement of Ccdc39 in hydrocephalus and suggest that the proper development of medial wall ependymal cilia is crucial for normal mouse brain development.

Indocyanine Green Demonstrating Positive Anatomical Changes 1 Year After Initiation of Conservative Therapy for Lymphedema: A Case Report

Introduction: Lymphedema is the abnormal accumulation of protein-rich fluid due to a damaged or insufficient lymphatic system. Lymphatic vessels can be mapped using indocyanine green (ICG). The purpose of this case report is to demonstrate anatomical changes after 1 year of conservative care as demonstrated through ICG for the first time to the authors' knowledge. Case Description: The patient was a 53-year-old woman who reported a 7-year history of left lower extremity swelling. She completed a short course of physical therapy elsewhere and wore a thigh-high compression garment of 20 to 30 mm Hg. She noted worsening of swelling over time and no longer got resolution of swelling with elevation. She presented to a multidisciplinary clinic for further evaluation and treatment. Objective Findings: The patient completed ICG lymphography demonstrating bilateral disease states in her lower extremities: Campisi stage II with lymphographic stage IV in the right lower extremity and lymphographic stage V in the left lower extremity. Bioimpedance scores, body mass index (BMI), and circumferential measurements were documented as well. Interventions: The patient underwent physical therapy including manual lymphatic drainage (MLD), increasing compression garment to 30 to 40 mm Hg, beginning use of a compression pump at home, exercise, and instructing the patient in self-MLD. There were 6 treatment sessions over a 3-month period. Assessment: At 1-year follow-up, the patient had positive changes in her bioimpedance scores, circumferential measurements, BMI, and ICG lymphography studies. Her ICG lymphography demonstrated increased “linear” patterns instead of diffuse or stardust patterns, suggesting improved lymphographic staging. Discussion: These findings imply that conservative therapies positively affect anatomy and physiology in a compromised lymphatic system after 1 year, allowing the system to work more effectively. These changes indicate lymphangiogensis, recanalization, or tissue recovery, but a causal relationship cannot be drawn at this time. These conservative therapies include complex decongestive therapy (MLD, compression, exercise) and weight loss.

Modelling Deep Tonometry of Lymphedematous Tissue

Indentation testing, also refereed to as tonometry in medical diagnostics, is one of the most frequently used methods for studying the properties of soft biological tissues. In the case of lymphedematous tissues, characterized by abnormal accumulation of excess interstitial fluid, the indentation method constitutes an objective alternative for the standard manual palpation test, that is used for evaluation of elastic modulus and time dependent tissue response related to finding parameters of effective compression therapy. This paper focuses on the numerical modelling of a deep indentation test for which the flat cylindrical tip with a surface area of 1 cm2 penetrates the tissue at a constant rate until 1 cm depth is reached. The indentation generates large deformations of skin and subcutaneous tissue and squeezing of part of the interstitial fluid from the compressed region. The skin is modelled as an isotropic neo-Hookean solid and subcutaneous tissue is modelled as a fluid saturated porous matrix. The effective stress law, isotropic neo-Hookean elastic matrix and the Darcy's type of interaction force between phases are adopted for the subcutaneous tissue. The finite element simulations deliver results for time dependent indentation force and pore pressure under the indenter for different and relevant to real tissues properties. The role of the properties and the presence of skin are analysed. The values of maximum reaction force and relaxation time are compared and evaluated as descriptors of mechanical properties of tissues.

Learning Based Segmentation of CT Brain Images: Application to Postoperative Hydrocephalic Scans.

Hydrocephalus is a medical condition in which there is an abnormal accumulation of cerebrospinal fluid (CSF) in the brain. Segmentation of brain imagery into brain tissue and CSF [before and after surgery, i.e., preoperative (pre-op) versus postoperative (post-op)] plays a crucial role in evaluating surgical treatment. Segmentation of pre-op images is often a relatively straightforward problem and has been well researched. However, segmenting post-op computational tomographic (CT) scans becomes more challenging due to distorted anatomy and subdural hematoma collections pressing on the brain. Most intensity- and feature-based segmentation methods fail to separate subdurals from brain and CSF as subdural geometry varies greatly across different patients and their intensity varies with time. We combat this problem by a learning approach that treats segmentation as supervised classification at the pixel level, i.e., a training set of CT scans with labeled pixel identities is employed. Our contributions include: 1) a dictionary learning framework that learns class (segment) specific dictionaries that can efficiently represent test samples from the same class while poorly represent corresponding samples from other classes; 2) quantification of associated computation and memory footprint; and 3) a customized training and test procedure for segmenting post-op hydrocephalic CT images. Experiments performed on infant CT brain images acquired from the CURE Children's Hospital of Uganda reveal the success of our method against the state-of-the-art alternatives. We also demonstrate that the proposed algorithm is computationally less burdensome and exhibits a graceful degradation against a number of training samples, enhancing its deployment potential.

A systematic review of the efficacy and safety of intrapericardial fibrinolysis in patients with pericardial effusion

Pericardial effusion is the abnormal accumulation of fluid in the pericardial space. The complications of pericardial effusion can either be acute (e.g., cardiac tamponade) or chronic (e.g., constrictive pericarditis). We have conducted a systematic review of the scientific literature to evaluate the efficacy and safety of intrapericardial fibrinolysis in preventing complications of pericardial effusion. We searched for both published and unpublished studies. 29 studies, with a total of 109 patients were included in this review; 17 case reports, 11 case series, and one randomised controlled trial (RCT). All included studies had a high risk of bias. The most common causes of pericardial effusion were Staphylococcus aureus (12 studies with 23 cases) and Mycobacterium tuberculosis (2 studies with 19 cases). The most common fibrinolytic agents used were streptokinase (15 studies) and urokinase (5 studies). Intrapericardial fibrinolysis prevented complications in 94 (86.2%) patients. Non-fatal procedure-related complications were reported 21 (19.2%) patients. No patient died following intrapericardial fibrinolysis. There is very low certainty of the efficiency and safety of intrapericardial fibrinolysis in preventing the complications of pericardial effusion. High quality RCTs are required to address this question.

In silico analysis of single nucleotide polymorphisms (SNPs) in human FOXC2 gene.

Introduction: Lymphedema is an abnormal accumulation of interstitial fluid, due to inefficient uptake and reduced flow, leading to swelling and disability, mostly in the extremities. Hereditary lymphedema usually occurs as an autosomal dominant trait with allelic heterogeneity. Methods: We identified single nucleotide polymorphisms (SNPs) in the FOXC2 gene using dbSNP, analyzed their effect on the resulting protein using VEP and Biomart, modelled the resulting protein using Project HOPE, identified gene - gene interactions using GeneMANIA and predicted miRNAs affected and the resulting effects of SNPs in the 5' and 3' regions using PolymiRTS. Results: We identified 473 SNPs - 429 were nsSNPs and 44 SNPs were in the 5' and 3' UTRs. In total, 2 SNPs - rs121909106 and rs121909107 - have deleterious effects on the resulting protein, and a 3D model confirmed those effects. The gene - gene interaction network showed the involvement of FOXC2 protein in the development of the lymphatic system. hsa-miR-6886-5p, hsa-miRS-6886-5p, hsa-miR-6720-3p, which were affected by the SNPs rs201118690, rs6413505, rs201914560, respectively, were the most important miRNAs affected, due to their high conservation score. Conclusions: rs121909106 and rs121909107 were predicted to have the most harmful effects, while hsa-miR-6886-5p, hsa-miR-6886-5p and hsa-miR-6720-3p were predicted to be the most important miRNAs affected. Computational biology tools have advantages and disadvantages, and the results they provide are predictions that require confirmation using methods such as functional studies.

MHEALTH SELF-CARE INTERVENTIONS FOR LYMPHEDEMA SYMPTOMS FOLLOWING BREAST CANCER TREATMENT

Lymphedema, an abnormal accumulation of lymph fluid in the ipsilateral body area or upper limb, remains an ongoing major health problem affecting more than 40% of 3.1 million breast cancer survivors in the United States. Patient-centered care related to lymphedema symptom management is often inadequately addressed in clinical research and practice. To provide patient – centered care, we developed The-Optimal-Lymph-Flow health IT system (TOLF), a web-and-mobile-based educational and behavioral mHealth intervention focusing on safe, innovative, and pragmatic electronic assessment and self-care strategies for lymphedema symptom management. Findings from psychometric, usability, and pilot feasibility studies demonstrate that women using TOLF for 12 weeks experienced significantly less pain (p=0.031), fewer numbers of lymphedema symptoms (p=0.003), and improved symptom distress (p=0.000). The study findings suggest that innovative web-and-mobile-based educational and behavioral mHealth interventions, such as TOLF, are easily accessible and have potential to improve breast cancer survivors’ quality of life.

OCT-Leakage Mapping: A New Automated Method of OCT Data Analysis to Identify and Locate Abnormal Fluid in Retinal Edema

To test OCT-Leakage, a new method of analyzing and mapping sites of lower optical reflectivity found on OCT, by examining eyes with various types of retinal edema to identify abnormal increases in retinal extracellular fluid. Prospective analysis of a cohort of cases. Healthy eyes and eyes with retinal edema in the setting of different retinal diseases. Prospective OCT-Leakage analysis of 12 eyes with various types of retinal edema, such as diabetic macular edema, branch retinal vein occlusion, idiopathic perifoveal telangiectasia, and Irvine-Gass syndrome, representing intraretinal edema and eyes with idiopathic central serous chorioretinopathy and neovascular age-related macular degeneration representing subretinal fluid accumulation, in order to compare with OCT-Leakage analysis of a series of 41 eyes of 24 healthy controls. Raw scan data from the OCT images were exported and used to calculate lower than normal optical reflectivity maps (low optical reflectivity [LOR] ratios). Optical reflectivity LOR maps (OCT-Leakage maps) were collected for the full retina A-scan and layer by layer after segmentation. Low optical reflectivity ratios from patients with the different conditions of retinal edema and controls were compared. Fluorescein angiography (FA) and OCT angiography (OCTA) were performed in all eyes. Identification of areas of abnormal retinal fluid accumulation. The OCT-Leakage maps based on sites of LOR (LOR ratios) delineated the location of intraretinal and subretinal fluid, always integrating the location of the sites on FA and the vascular abnormalities observed on OCTA. The areas of fluid outline in the OCT-Leakage maps were coincident and generally larger than those seen on FA. In all cases, the OCT-Leakage maps were able to identify the location of the fluid in the different segmented retinal layers. Mapping of lower reflectivity sites within the retina demonstrates the amount and location of retinal and subretinal fluid in different retinal diseases, showing potential to contribute to their management. Furthermore, thepossibility of complementarity between OCT-Leakage and OCTA is highly promising.

In silico analysis of single nucleotide polymorphisms (SNPs) in human FOXC2 gene

Introduction: Lymphedema is an abnormal accumulation of interstitial fluid, due to inefficient uptake and reduced flow, leading to swelling and disability, mostly in the extremities. Hereditary lymphedema usually occurs as an autosomal dominant trait with allelic heterogeneity. Methods: We identified single nucleotide polymorphisms (SNPs) in the FOXC2 gene using dbSNP, analyzed their effect on the resulting protein using VEP and Biomart, modelled the resulting protein using Project HOPE, identified gene – gene interactions using GeneMANIA and predicted miRNAs affected and the resulting effects of SNPs in the 5’ and 3’ regions using PolymiRTS. Results: We identified 473 SNPs - 429 were nsSNPs and 44 SNPs were in the 5’ and 3’ UTRs. In total, 2 SNPs - rs121909106 and rs121909107 - have deleterious effects on the resulting protein, and a 3D model confirmed those effects. The gene – gene interaction network showed the involvement of FOXC2 protein in the development of the lymphatic system. hsa-miR-6886-5p, hsa-miRS-6886-5p, hsa-miR-6720-3p, which were affected by the SNPs rs201118690, rs6413505, rs201914560, respectively, were the most important miRNAs affected, due to their high conservation score. Conclusions: rs121909106 and rs121909107 were predicted to have the most harmful effects, while hsa-miR-6886-5p, hsa-miR-6886-5p and hsa-miR-6720-3p were predicted to be the most important miRNAs affected. Computational biology tools have advantages and disadvantages, and the results they provide are predictions that require confirmation using methods such as functional studies.