MATERIALE BIBLIOGRAFICO: Recensioni: H. Hofmann, Introduzione alla filosofia del diritto e della politica
In: Filosofia politica: riv. semestrale, Band 19, Heft 2, S. 277
ISSN: 0394-7297
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In: Filosofia politica: riv. semestrale, Band 19, Heft 2, S. 277
ISSN: 0394-7297
In: Journal of biosocial science: JBS, Band 29, Heft 2, S. 219-233
ISSN: 1469-7599
The cost effectiveness of several modes of family planning service
delivery based on the cost per couple-year of protection (CYP), including
commodity costs, is assessed for 1991–92 using programme and project data from
fourteen developing countries (five in Africa, four in Asia, three in Latin
America and two in the Middle East). More than 100 million CYP were provided
through these family planning services during the 12 months studied.
Sterilisation services provided both the highest volume (over 60% of total)
and the lowest cost per CYP ($1.85). Social marketing programmes (CSM),
delivering almost 9 million CYPs, had the next lowest cost per CYP on average
($2.14). Clinic-based services excluding sterilisation had an average cost of
$6.10. The highest costs were for community-based distribution projects (0·7
million CYPs), which
averaged $9.93, and
clinic-based services with a community-based distribution component (almost 6
million CYPs), at a cost of $14.00 per CYP. Based on a
weighted
average, costs were lowest in the Middle East ($3.37 per CYP for all modes of delivery combined) and highest in
Africa ($11.20).
Importance Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation. Objective To identify the genetic variants associated with juvenile ALS. Design, Setting, and Participants In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism. Main Outcomes and Measures De novo variants present only in the index case and not in unaffected family members. Results Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway. Conclusions and Relevance These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.
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