Treatment of pulmonary arterial hypertension: A review of drugs available for advanced therapy.

Pulmonary hypertension (PH) has traditionally been considered a rare disease with a uniformly poor prognosis. However, this was prior to the introduction of advanced therapies for this condition, and more recent registries in the treatment era have shown 5-year survival rates of up to 65%. Prior to 2000, there was only one licensed therapy for pulmonary arterial hypertension (PAH); less than 20 years later, the US Food and Drug Administration has approved 14 different medications for PAH. This review aims to summarise for the general pulmonologist the evidence for the current internationally available advanced therapies for PAH (World Health Organization Group I disease), which is characterised haemodynamically by the presence of precapillary PH in the absence of another cause. The benefit of these agents, either alone or in combinations, is now undisputed and their use is advocated in all current international guidelines for PAH. The improvement in survival of patients with PAH over the concurrent timeline emphasises the importance both of the availability and usage of effective therapies and of patients being seen in specialist centres, where physicians are familiar with using these therapies.

Familial adenomatous polyposis in two Black South African families.

The apparent low incidence of colon cancer in the Black population of South Africa has been ascribed to a non-Western diet. The present authors report the identification of two common 5-bp deletions at codons 1309 and 1061 of the adenomatous polyposis coli (APC) gene in a Xhosa and Zulu patient, respectively. The in vitro transcription/translation test (PTT) and a non-radioactive heteroduplex method, which facilitates resolution of enzymatically amplified DNA by agarose gel electrophoresis, were used for mutation detection. This study represents the first report of APC mutations in indigenous Black individuals clinically diagnosed with familial adenomatous polyposis coli (FAP). The two deletion mutations are responsible for FAP in 35% of affected South Africans, a frequency similar to that described in several other non-African populations. The apparently low incidence of colon cancer in the African population may be ascribed either to the rare occurrence of the 'second hit' needed for polyp formation or to a lower incidence of mutations in the APC gene.

[Combined verbal and sign language for promoting communication development in non-verbal or or pre-verbal children and adolescents with mental retardation]. / Lautsprachbegleitende Gebärden zur Förderung der Kommunikationsfähigkeit bei nicht oder noch nicht sprechenden Kindern und Jugendlichen mit geistiger Behinderung.

Conveying alternative and augmentative approaches to communication is becoming necessary for increasing numbers of persons with mental retardation with no or poor oral skills. The preverbal and nonverbal forms of communicating, hence, have special relevance in a developmental context. A natural extension of gestic messages, it in particular is the use of signing that is apt to enhance speech and language acquisition and bring about distinct improvement in understanding and making oneself understood. Exchanging messages by sign language can reveal to the child the significance of his/her own behaviour in the communicative situation, hence reduce passiveness and frustration. The extent to which they are able to support the child's communicative needs in concrete, everyday living is an important suitability criterion also for the various other alternative and augmentative communication devices available.