Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population.

Hereditary hemochromatosis (HH) is an autosomal recessive disorder characterized by excessive iron absorption resulting in pathologically increased body iron stores. It is typically associated with common HFE gene mutation (p.Cys282Tyr and p.

Distribution and quantitation of skin iron in primary haemochromatosis: correlation with total body iron stores in patients undergoing phlebotomy.

Measurement of the concentration of iron in the skin, if correlated with total body iron stores, may enable better informed decisions on when to initiate, change or stop therapy in hereditary heamochromatosis. Naïve haemochromatosis patients with iron overload and with C282Y and/or H63D HFE mutations were evaluated at the following time-points: disease diagnosis, end of the therapy programme, and 6 months after the end of therapy. The distribution and concentration of iron in the skin were assessed by quantitative nuclear microscopy methods, in parallel with serum and plasma iron concentration.

The functional significance of E277K and V295A HFE mutations.

Hereditary haemochromatosis (HH) is an autosomal recessive disorder characterized by excessive intestinal iron absorption resulting in increased pathological body iron stores. It is typically associated with homozygosity for the c.845G>A (p.

Severe hypercalcemia without hypercalciuria in a previously healthy infant.

Williams-Beuren syndrome (WBS) is a multisystem disorder that has a broad range of clinical findings including characteristic facial appearance, supravalvular aortic stenosis, dental and developmental abnormalities, and endocrinologic disorders including but not limited to the development of hypercalcemia. We present the case of a 10-month-old girl, with a history of intrauterine growth restriction, who presented with symptoms of weight loss and poor feeding. She was found to have severe elevation of her serum calcium to 20 mg/dL.

Does pelvic exam in the emergency department add useful information?

Objective: Physicians are taught that the pelvic exam is a key part of the evaluation of a woman presenting with abdominal pain or vaginal bleeding. However, the exam is time consuming and invasive, and its use in the emergency department (ED) has not been prospectively evaluated. We evaluated how often the findings of the pelvic exam changed management in a cohort of consecutive female patients presenting with acute abdominal pain or vaginal bleeding.

Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes.

The most frequent genotype associated with Hereditary hemochromatosis is the homozygosity for C282Y, a common HFE mutation. However, other mutations in HFE, transferrin receptor 2 (TFR2), hemojuvelin (HJV) and hepcidin (HAMP) genes, have also been reported in association with this pathology. A mutational analysis of these genes was carried out in 215 Portuguese iron-overloaded individuals previously characterized as non-C282Y or non-H63D homozygous and non-compound heterozygous.

[The maximum surgical blood order schedule].

For elective surgeries over ordering of blood is a common practice. The goal of the Maximum Surgical Blood Order Schedule (MSBOS) is to promote efficient use of blood. The purpose of this Portuguese study is to analyse the crossmatched blood units for elective surgery and the real amount of transfused blood, the crossmatch:transfusion rate (C:T) which must be less than 2.