Bullous Melanoma: should the thickness of the bullous lesion be included in Breslow depth measurement?

Bullous melanoma represents a rare variant of melanoma, especially in patients without underlying bullous cutaneous disease. Few cases have been described in the literature, including cases of melanoma in patients with bullous epidermolysis or Hailey-Hailey disease. The histopathological diagnosis of bullous melanoma does not show any difficulties, except for the measurement of the Breslow index. The rarity of this case, the dilemma of how to measure the Breslow index and the importance of an early diagnosis motivated this report.     

Informativeness ratings of messages created on an AAC processing prosthesis

Abstract

Most of the publications on the rehabilitation of Landau-Kleffner syndrome (LKS) are case studies focussing on the effectiveness of drug therapy. Only little attention has been paid to the educational context and language therapy. A review of the literature reveals that a broad spectrum of visual cues are used as common supports in speech and language therapy. There is a tendency to attempt restoration of oral language first before switching over to alternative communication. The rationale for a restorative approach is based on the use of visual cues in order to facilitate the acquisition of written and spoken language. It is suggested that language therapy can be effective only if embedded in a global approach.     

Age‐related changes in mastication

The paper reviews human mastication, focusing on its age‐related changes. The first part describes mastication adaptation in young healthy individuals. Adaptation to obtain a food bolus ready to be swallowed relies on variations in number of cycles, muscle strength and volume of emitted saliva. As a result, the food bolus displays granulometric and rheological properties, the values of which are maintained within the adaptive range of deglutition. The second part concerns healthy ageing. Some mastication parameters are slightly modified by age, but ageing itself does not impair mastication, as the adaptation possibilities remain operant. The third part reports on very aged subjects, who display frequent systemic or local diseases. Local and/or general diseases such as tooth loss, salivary defect, or motor impairment are then indistinguishably superimposed on the effects of very old age. The resulting impaired function increases the risk of aspiration and choking. Lastly, the consequences for eating behaviour and nutrition are evoked.     

Oral health findings in athletes with intellectual disabilities at the NYC Special Olympics

This study collected data to describe the oral health in Special Olympics athletes with intellectual disabilities from New York City, using the standardized Special Olympics, Special Smiles protocol. A total of 664 self‐selected athletes with intellectual disabilities were screened between 2005 and 2008. A standardized form was used for data collection. Screenings were performed using available light or flashlight, tongue depressor, and disposable mirror. Oral hygiene, reports of oral pain, untreated caries, missing and filled teeth were recorded. The majority of the athletes were 20 years of age or older (52%). Of the examined athletes, 9% reported oral pain, 8% needed urgent care, 28% had untreated caries, 60% had filled teeth, and 32% had signs of gingival disease. Mouthguards were recommended for 26% of athletes. Our findings offer an initial evaluation of the oral health of Special Olympics athletes with intellectual disabilities in New York City. Results showed high preventive and restorative oral health needs in the Special Olympics population.     

Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli–Seip congenital generalized lipodystrophy syndrome

Context  Congenital generalized lipodystrophy, or Berardinelli–Seip syndrome, is a rare autosomal recessive disease caused by mutations in either the BSCL2 or AGPAT2 genes. This syndrome is characterized by an almost complete loss of adipose tissue usually diagnosed at birth or early infancy resulting in apparent muscle hypertrophy. Common clinical features are acanthosis nigricans, hepatomegaly with or without splenomegaly and high stature. Acromegaloid features, cardiomyopathy and mental retardation can also be present.
Design  We investigated 11 kindreds from different geographical areas of Brazil (northeast and southeast). All coding regions as well as flanking intronic regions of both genes were examined. Polymerase chain reaction (PCR) amplifications were performed using primers described previously and PCR products were sequenced directly.
Results  Four AGPAT2 and two BSCL2 families harboured the same set of mutations. BSCL2 gene mutations were found in the homozygous form in four kindreds (c.412C>T c.464T>C, c.518–519insA, IVS5-2A>G), and in two kindreds compound mutations were found (c.1363C>T, c.424A>G). In the other four families, one mutation of the AGPAT2 gene was found (IVS3-1G>C and c.299G>A).
Conclusions  We have demonstrated four novel mutations of the BSCL2 and AGPAT2 genes responsible for Berardinelli–Seip syndrome and Brunzell syndrome (AGPAT2-related syndrome).