Cohen–Gibson syndrome in a family: The first familial case report

Cohen–Gibson syndrome (CGS) was first reported by Cohen et al., who identified the mutation of the gene encoding the embryonic ectoderm development (EED) in a patient with phenotypes similar to Weaver syndrome. CGS manifests as an overgrowth and intellectual disability, in addition to the characteristic facial features and organ anomalies. CGS has been reported in only 11 unrelated patients since 2015. A girl aged 6 years and 3 months presented with seizures. She had macrosomia, a dysmorphic face, and intellectual disability. Her mother and younger sister and brother also had macrosomia, intellectual disability, and similar facial features; additionally, her mother experienced seizures and had an arachnoid cyst, while her siblings had valvar pulmonary stenosis. Whole-exome sequencing for the proband revealed a mutation of EED (c.581A>G, p.Asn194Ser), which was also verified in the mother and both siblings using Sanger sequencing. This is the first report of familial CGS.

Cohen–Gibson syndrome in a family: The first familial case report

Cohen–Gibson syndrome (CGS) was first reported by Cohen et al., who identified the mutation of the gene encoding the embryonic ectoderm development (EED) in a patient with phenotypes similar to Weaver syndrome. CGS manifests as an overgrowth and intellectual disability, in addition to the characteristic facial features and organ anomalies. CGS has been reported in only 11 unrelated patients since 2015. A girl aged 6 years and 3 months presented with seizures. She had macrosomia, a dysmorphic face, and intellectual disability. Her mother and younger sister and brother also had macrosomia, intellectual disability, and similar facial features; additionally, her mother experienced seizures and had an arachnoid cyst, while her siblings had valvar pulmonary stenosis. Whole-exome sequencing for the proband revealed a mutation of EED (c.581A>G, p.Asn194Ser), which was also verified in the mother and both siblings using Sanger sequencing. This is the first report of familial CGS.

A Case of Oliguric Mannitol Induced Acute Kidney Injury Early Treated by Continuous Renal Replacement Therapy / 고신대학교의과대학학술지

We report oliguric mannitol-induced acute kidney injury (AKI) early treated by continuous renal replacement therapy. A 70-year-old woman was admitted to the Department of Neurology with diagnosis of acute intracranial hemorrhage. Mannitol was infused for intracranial pressure control. At admission third day, urine output was abruptly decreased to 57 ml during first 6 hours and blood urea nitrogen (BUN) and serum creatinine was increased to 54.2 mg/dL and 5.3 mg/dL respectively. Plasma osmolality was 340 mOsm/kg and osmolar gap was 70. Mannitol was immediately withdrawn and continuous renal replacement therapy (CRRT) was performed to remove mannitol rapidly. Urine output was increased 6 hours later after continuous veno-veno hemodiafiltration (CVVHDF) start. BUN and creatinine was decreased to 21.4 and 1.2 mg/dL at admission ninth day. Mannitol can develop oliguric AKI and CRRT may be of more benefit than conventional hemodialysis in the case of increased intracranial pressure.

Treatment of Pseudoaneurysm Caused by Insertion of Dual Lumen Catheter for Hemodialysis: A Case Report / 대한신장학회지

In patients with end-stage renal disease, cannulation of the central venous system with large-bore dual-lumen catheters is often necessary until a functioning vascular access can be created. However, the technique of placing a dual-lumen catheter can make complication. The right internal jugular vein is the preferred site of hemodialysis catheter placement because its complication rate was lower compared with the subclavian and left internal jugular veins. Common complications include severe bleeding, hematoma formation, pneumothorax and hemothorax, atrial or ventricular arrhythmias, malposition of the catheter, air embolism, secondary infections, and intraarterial placement of the catheter. We report an unusual case of pseudoaneurysm of the superior thyroidal artery complicating an attempt of internal jugular-vein catheterization which was successfully treated by endovascular coil embolization.