Ciliary Abnormalities Due to Defects in the Retrograde Transport Protein DYNC2H1 in Short-Rib Polydactyly Syndrome

The short-rib polydactyly (SRP) syndromes are a heterogenous group of perinatal lethal skeletal disorders with polydactyly and multisystem organ abnormalities. Homozygosity by descent mapping in a consanguineous SRP family identified a genomic region that contained DYNC2H1, a cytoplasmic dynein involved in retrograde transport in the cilium. Affected individuals in the family were homozygous for an exon 12 missense mutation that predicted the amino acid substitution R587C. Compound heterozygosity for one missense and one null mutation was identified in two additional nonconsanguineous SRP families. Cultured chondrocytes from affected individuals showed morphologically abnormal, shortened cilia. In addition, the chondrocytes showed abnormal cytoskeletal microtubule architecture, implicating an altered microtubule network as part of the disease process. These findings establish SRP as a cilia disorder and demonstrate that DYNC2H1 is essential for skeletogenesis and growth

Psychiatric Aftercare: A Study of the 1965 Changes in the Admission Laws of the New York State Department of Mental Hygiene as They Affect Treatment at the Queens Aftercare Clinic, April 1966-December 1966

The effective treatment of mental illness frequently requires that the individual be removed from the community and hospitalized in order to receive the maximum benefits of therapy. Unfortunately, the emergent nature of many types of mental illness precipitate rapid, compulsory admission to mental hospitals. Methods of involuntary admission, particularly court certification, with its similarity to a trial, often provoke the patient to resent hospitalization and to reject its therapeutic value. The movement towards the voluntary admission of mentally ill persons to hospitals for purposes of treatment rather than mere custody has been advocated by both the medical and legal professions. The Federal Government has supported intensive research concerning the treatment of mental illness and the results of such study have encouraged state governments to institute change in their laws relating to the hospitalization of the mentally ill. The federally sponsored Joint Commission on Mental Illness and Health conducted a four year study during the period 1956 to I960 in order to make recommendations for a national mental health program. As a result of this study, three basic principles concerning the evolution of the treatment of mental illness emerged: The late nineteenth century medical dictum that schizophrenia is a hopeless, incurable disease requiring the person to be removed from human society for the rest of his life is baseless. The widely held concept of total insanity likewise is without foundation. The normal human being regards loss of liberty, forcible detention, removal from the community and imprisonment as punishment for wrongdoing; the mentally ill, having grown up with the same viewpoints, are no exceptio