[Giant thymoma - case report]. / Risaæxli í hóstarkirtli - sjúkratilfelli.

Thymomas are usually benign tumors and are most often found in the anterior mediastinum. We report a rare case of a giant tumor in the right hemithorax that originated in the thymus. The tumor was 15x8 cm and histology revealed a type AB thymoma. The tumor was removed and the patient is doing well and is without symptoms two years after the operation. Key words: Thymoma, abdominal pain, giant tumor, mediastinum.

[Inappropriate use of blood components in critical care?]. / Má bæta notkun blódhluta á gjörgæsludeildum? Samanburdur vid klínískar leidbeiningar.

INTRODUCTION: Due to potential risk of blood transfusions, clinical guidelines emphasize restrictive use of blood components. However, numerous studies indicate that adherence to guidelines is often less than optimal. Furthermore, information regarding use of blood transfusion in intensive care units (ICUs) and compliance to clinical guidelines is lacking. We studied the use of blood components in two adult ICUs in Iceland and the compliance to clinical guidelines. MATERIALS AND METHODS: All adult patients that received blood components in both ICUs at Landspitali during 6 months in 2010 were studied. Hematology and coagulation parameters as well as indications for administration were compared with hospital guidelines. RESULTS: 202 patients (34%) received blood components, half of them after surgery. 30% received red-blood cells (RBCs), 18% fresh frozen plasma (FFP) and 9% platelets. The mean hemoglobin value before RBC transfusion was 87 g/L, but in one third of cases it exceeded 100 g/L. FFP was transfused at a normal prothrombin time in 9% of cases. No coagulation parameters were available before transfusion of 5% of FFP. Mean platelet count before transfusion of platelets was 82 x109/L and in 34% of cases it exceeded 100 x109/L. CONCLUSION: One third of patients received blood components during their ICU stay, most commonly RBCs. At least 6% of RBCs, 14% of FFPs and 33% of platelets were not transfused according to recent guidelines at Landspítali. Although our results are in line with findings of other studies it appears that the use of blood components in Icelandic ICUs can be improved. Key words: Blood transfusion, intensive care unit, red blood cells, fresh frozen plasma, platelets, transfusion clinical guidelines.

[Phenylketonuria (PKU) in Iceland]. / Fenýlketónúría á Íslandi.

INTRODUCTION: PKU is a metabolic disorder caused by a mutation in the phenylalanine hydroxylase (PAH) gene. Icelandic neonatal screening for PKU started in 1972. The mutation causes a variable [corrected] dysfunction in PAH, that metabolizes phenylalanine (Phe) to tyrosine (Tyr) with the cofactor tetrahydrobiopterin (BH4). Accumulation of Phe causes mental retardation and seizures. Current therapy focuses on Phe-restrictive diet and newer methods like BH4 in large doses. The primary aim was to collect data about PKU in Iceland and evaluate therapy and screening. Additional focus was on BH4 therapy. MATERIALS AND METHODS: Information was gathered from Landspitali medical charts retrospectively. Serum-Phe (S-Phe) measurements, age at initiation of therapy, PAH mutation types and information on current therapy was collected. RESULTS from BH4 loading tests were collected. RESULTS: 27 patients have been diagnosed with PKU in Iceland since 1947. Incidence 1972-2008 is 1/8400 living births. Classic PKU is the most common presentation in Iceland. Patients diagnosed after screening started have normal intelligence. Age at initiation of therapy and S-Phe average values lower with time. 12 PAH mutation types have been found in Iceland. A novel Icelandic mutation, Y377fsdelT, did not respond to BH4 loading test. Two patients responded to a BH4 loading test and four other patients are likely to respond to BH4 loading test. CONCLUSION: PKU incidence in Iceland is slightly higher than in neighboring countries. Therapy compliance is adequate and international consensuses regarding therapy are met. PKU patients in Iceland are generally in good health. Screening is efficient and save. BH4 therapy is a an optional alternative therapy in Iceland.