Despite significant progress in transplantation by the addition of alternative hematopoietic stem cell sources, many patients with inherited bone marrow failure syndromes are still not eligible for a transplant. In addition, the availability of sequencing panels has significantly improved diagnosis by identifying cryptic inherited cases. Androgens are the main nontransplant therapy for bone marrow failure in dyskeratosis congenita and Fanconi anemia, reaching responses in up to 80% of cases. Danazol and oxymetholone are more commonly used, but virilization and liver toxicity are major adverse events. Diamond-Blackfan anemia is commonly treated with corticosteroids, but most patients eventually become refractory to this treatment and toxicity is limiting. Growth factors still have a role in inherited cases, especially granulocyte colony-stimulating factor in congenital neutropenias. Novel therapies are warranted and thrombopoietin receptor agonists, leucine, quercetin, and novel gene therapy approaches may benefit inherited cases in the future.

Haploinsufficiency of GATA2 caused by heterozygous loss-of-function mutations is associated with cytopenias and predisposition to myelodysplasia and AML with other variable extrahematopoietic manifestions, including lymphedema, pulmonary alveolar proteinosis, and hearing loss. The authors report on 2 siblings with the disorder whose father was asymptomatic because of an acquired missense mutation in the affected allele that was restricted to hematopoietic cells; surprisingly, he also had no extrahematopoietic complications.

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No abstract

The effects of pathologic patterns of alcohol use on the Central Nervous System (CNS) are a wellestablished fact, although not all have received a satisfactory explanation. The symptoms can be felt at any level of the neural axis, including the brain, peripheral nerves and muscles. Cranio-encephalic traumatism (CET) from severe car accidents caused by drunk drivers should also be mentioned as an unfortunate after-effect of alcohol abuse on the CNS. Genetic factors are another important determinant of the risk for the pathogenesis of the group of symptoms that together are characteristic or indicative of this specific condition (alcoholism), including a person's inward disposition toward alcoholism. Our aim in this chapter is to list the most important complications of alcohol intake on the CNS, considered to be indispensable knowledge for all clinicians. Although diagnostic confirmation, treatment and follow-up of several of the complications mentioned in this chapter are usually within the province of the neurologist, the internist or general physician is often the first to evaluate the patient and should be familiar enough with head and spine injury to formulate the initial diagnosis and treatment of the disorder by some remedial or curative process; this two-pronged approach has proved to involve a change in the forecast of the probable course of several affections of the CNS by alcohol abuse, especially of the possibility for recovery.