background: lip carcinoma is a common cancer with a good prognosis and when patients refer early in the course of disease the results of treatment are acceptable. surgical procedures for reconstruction of lip defects are the use of remaining lip tissue, tissue from the opposite lip, adjacent cheek tissue, distant flaps and microvascular free flaps. the bitemporal (visor) flap is a regional flap...

Major histocompatibility complex (MHC) class II combined immunodeficiency (CID), also known as type II bare lymphocyte syndrome, is an autosomal recessive genetic disorder characterized by the complete lack of expression of MHC class II antigens. The defect results from a coordinated lack of transcription of all class II genes. Cell fusion studies using many patient- and experimentally derived ...

Mice heterozygous for missense mutations of the Notch ligand Jagged1 (Jag1) exhibit head-shaking behavior indicative of an inner ear vestibular defect. In contrast, mice heterozygous for a targeted deletion of the Jag1 gene (Jag1del1) do not demonstrate obvious head-shaking behavior. To determine whether the differences in inner ear phenotypes were due to the types of Jag1 mutations or to diffe...

In clinical practice, the pediatric dermatologist from time to time encounters patients who have ichthyosis. Patients with this rare disease need a precise diagnosis, good advice on how to manage their skin condition, and adequate genetic counseling. The old days, when ichthyosis was categorized into only 6 major types are long gone.1 A recent consensus conference revised the nomenclature and p...

PURPOSE To date, more than thirty nine genetic loci have been associated with congenital cataracts. Despite this progress, current diagnostic techniques are insufficient for unraveling the underlying genetic defect in sporadic patients and small families. In the present manuscript we demonstrate the contribution of routine laboratory tests in the search for genetic defects of childhood cataract...

The frequent occurrence of hyposthenuria in patients with sickle cell anemia has been noted since 1928 (1). McCrory, Goren, and Cornfeld (2), and Kunz, Pratt, Mellin, and Cheung (3), established that the urinary concentration defect was not due to a deficiency of the antidiuretic hormone and Zarafonetis, Steiger, Molthan, McMaster, and Colville (4), reported that subjects with the sickle cell t...

The continuos shrinking of semiconductor’s nodes makes semiconductor memories increasingly prone to electrical defects tightly related to the internal structure of the memory. Exploring the e↵ect of fabrication defects in future technologies, and identifying new classes of functional fault models with their corresponding test sequences, is a time consuming task up to now mainly performed by han...

Congenital myasthenic syndromes are a heterogeneous group of genetically determined disorders characterized by impaired neuromuscular transmission. They usually present from birth to childhood and are characterised by exercise induced weakness and fatigability. Genotype-phenotype correlations are difficult. However, in some patients particular phenotypic aspects may point towards a specific gen...