Beckwith-Wiedemann syndrome and isolated hemihyperplasia

Abstract

Elucidation of the etiological mechanisms and use of a laboratory protocol to detect alterations in these disorders may be useful for guiding the management of such patients and genetic counseling of the families.

Recurrent benign adrenal pheochromocytomas associated with hemihypertrophy

“…According to the Children's Association of New Zealand (9) (10), the diagnosis of BWS is based on clinical suspicion and presence of two of the five major characteristics, namely macroglossia, unexplained hypoglycemia in the first 4 months of life, ear creases or pits, abdominal wall defect (including minor naval hernia), and birth weight over 90–95% (adjusted for prematurity if relevant).…”

Analysis of the Approach on Usability and Ergonomics in Handling and Transporting Packaging

“…The purpose of Ergonomics is always to adapt or adjust the object in the best possible way to human beings in general, in relation to safety, comfort, and use efficiency or operational handling of the objects, in activities and human tasks [3].…”

“…Human posture is the decision to keep the body in a desired position related to biomechanical matters [3]. General biomechanics studies the interactions between work and man under the perspective of skeletal muscle moves.…”

“…General biomechanics studies the interactions between work and man under the perspective of skeletal muscle moves. Iida [8] states that Occupational Biomechanics is part of General Biomechanics and, thus, Gomes [3] emphasizes that it studies the interactions between man and work under the perspective of skeletal muscle moves.…”

An alternative approach to medical genetics based on modern evolutionary biology. Part 5: epigenetics and genomics

“…12 The epigenetic abnormality manifested at a relatively late stage in neuronal maturation, hence the delay in the appearance of the disease. Disturbed genomic imprinting is a feature of many hereditary disorders of development including Beckwith-Wiedemann syndrome, 13,14 Prader-Willi syndrome and Angelman syndrome, 15 each of which arises through a combination of genetic and epigenetic malfunction resulting in disturbed genetic expression. The genetic factors in Beckwith Wiedemann syndrome are complex, but many cases appear to be related to disturbance in a region of chromosome 11 that contains developmental genes involved in imprinting.…”