The Influence of a Genetic Variant in on -Associated Skeletal Muscle Disease.

Mutations in the gene-encoding A-type lamins can cause Limb-Girdle muscular dystrophy Type 1B (LGMD1B). This disease presents with weakness and wasting of the proximal skeletal muscles and has a variable age of onset and disease severity. This variability has been attributed to genetic background differences among individuals; however, such variants have not been well characterized.

Collection of the BD SurePath Pap Test with a broom device plus endocervical brush improves disease detection when compared to the broom device alone or the spatula plus endocervical brush combination.

Objective: Here we examine the diagnostic utility of the US Food And Drug Administration (FDA) approved Spatula + endocervical brush combination for the BD SurePath Pap Test (SPPT) and compare it to SPPT collection with the broom alone or to an off-label combination of broom + EC brush. This question is important due to lingering concerns over the value of EC detection to a satisfactory Pap test.

Methods: 20,125 SPPT vials were examined for the collection devices contained.

Season dermatitis ex insectis caused by stings of Sclerodermus domesticus.

Case history of five members from the same family is reported. They developed papulourticarial pruritic rash on the skin of their torsos and extremities during their summer stay in an old family house. The cause was an insect determined as Sclerodermus domesticus, known for its parasitism on larvae of a wood pest.

Familial multiple lipomatosis.

A family genealogy, comprising four cases of familial multiple lipomatosis, making their appearance one after the other in three generations is reported. Two cases with impressive clinical features are presented in detail. This report contributes to the opinion that the disease is transmitted by the autosomal dominant route of inheritance.

An approach of ultrasound diagnostic techniques of the skin and subcutaneous tissue.

The authors have examined ultrasound echograms and photographs of the skin and subcutaneous tissue changes in some skin diseases, reporting their findings. In spite of the preliminary clinical casuistry, this quick, simple and painless technique without irradiation hazard to the patient shows the advantage relating to the other techniques, routine roentenography especially. In conclusion, it is the authors' opinion that the improved scanning technique and greater experience should offer such valuable results, used as an additional method in dermatological diagnostics.

Ultrasound diagnostics as a method of investigation of plastic induration of the penis.

Using the ultrasound technique of visualization (grey-scale technique) and a method of 'water bath', the authors obtained echograms of plastic indurations of the penis. The echograms can be immediately photographed and interpreted. By their quick, painless and simple performance, without contrast medium and hazardous irradiation, the authors gain an advantage over some other diagnostic methods.