Gene's hubs in retinal diseases: A retinal disease network.

BACKGROUND: Retinal diseases associated with the dysfunction or death of photoreceptors are a major cause of blindness around the world, improvements in genetics tools, like next generation sequencing (NGS) allows the discovery of genes and genetic changes that lead to many of those retinal diseases. Though, there very few databases that explores a wide spectrum of retinal diseases, phenotypes, genes, and proteins, thus creating the need for a more comprehensive database, that groups all these parameters. METHODS: Multiple open access databases were compiled into a new comprehensive database. A biological network was then crated, and organized using Cytoscape. The network was scrutinized for presence of hubs, measuring the concentration of grouped nodes. Finally, a trace back analysis was performed in areas were the power law reports a high r-squared value near one, that indicates high nodes density. RESULTS: This work leads to creation of a retinal database that includes 324 diseases, 803 genes, 463 phenotypes, and 2461 proteins. Four biological networks (1) a disease and gene network connected by common phenotypes, (2) a disease and phenotype network connected by common genes, (3) a disease and gene network with shared disease or gene as the cause of an edge, and (4) a protein and disease network. The resulting networks will allow users to have easier searching for retinal diseases, phenotypes, genes, and proteins and their interrelationships. CONCLUSIONS: These networks have a broader range of information than previously available ones, helping clinicians in the comprehension of this complex group of diseases.

Werner's syndrome: incidental finding during pregnancy.

Werner's syndrome (WS) is a rare autosomal recessive disorder, characterised by skin changes prematurely during adolescence. An unusual case of WS was found in a 27-year-old pregnant woman who presented to the hospital with a history of uncontrolled hypertension at 32 weeks of gestation. All clinical features corresponding to WS (early aging of skin, hair loss, blurred vision and diabetes type 2) appeared to match with the prospective diagnosis, which was confirmed later with genetic testing. The pregnancy became complicated due to oligohydramnios and therefore a caesarean section was carried out in order to preserve the fetus. Despite all implemented efforts, the patient died intraoperative as a result of cardiac arrest and its complications. Successfully, the newborn survived and it was further investigated to exclude this condition.

Lethal liquorice lollies (liquorice abuse causing pseudohyperaldosteronism).

A 47-year-old woman was admitted to the emergency department with a history of asthenia, periorbital and lower limbs oedema, associated with hypokalaemia and increased blood pressure levels. Metabolic and renal causes were initially investigated as thyroid disease, Cushing syndrome and tubulopathies were excluded during the first week of admission. However, further questioning of the patient, revealed that she had been consuming several sachets of raw liquorice lollies (ignored amount) obtained from a herbalist a month ago. Based on the history and clinical findings, liquorice poisoning was highly suspected; an apparent mineralocorticoid excess secondary to ingestion of liquorice. Afterwards, levels of aldosterone and plasma renin activity were measured and found low 3 weeks later; therefore, our clinical suspicion was established. During the patient's stay at the hospital, liquorice was stopped and potassium supplements were started. Subsequently, a week after, the patient fully recovered without any significant sequelae.

A headache presenting in the emergency room, a clinical manifestation of an unfortunate diagnosis (grade III left frontal anaplastic ependymoma with 1p deletion).

An 18-year-old girl presented with a headache and behavioural changes. She was found to have a frontal mass. Neuroimaging revealed an intra-axial mass, located at the left frontal cortical/subcortical region approximately 6×7, 5×7, 5 cm (TxApxL), having a heterogeneous density with cysts and calcification. She had total gross excision of the neoplasm. Histopathological examination revealed an anaplastic ependymoma. Fluorescence in situ hybridisation, a molecular cytogenetic test, reported deletion of 1p without deletion of 19q. The patient had a good postoperative improvement.

Haemobilia due to iatrogenic portobiliary fistula after cholecystectomy.

Haemobilia, defined as bleeding into the biliary tree is a rare condition. We describe a case report of a patient who presented it as a complication of iatrogenic portobiliary fistula, followed after an open cholecystectomy. The patient presented to the emergency department with late onset symptoms of haematemesis and melena a month after surgery. Findings were confirmed by Doppler ultrasound that showed the appearance of intragallbladder mass with high echogenicity representing a blood clot. Also, next to the portal vein and the biliary duct a lesion with mixed blood flow was detected confirming a portobiliary fistula. This case was successfully managed by angiography and selective embolisation.