A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay

Mutations in PTHLH (PTH-like hormone), cause brachydactyly type E (BDE) characterized by shortening of metacarpals, metatarsals and/or phalanges with short stature. In this report we describe three siblings and their mother with a novel heterozygous mutation c.25 T &gt; C, p.Trp9Arg in exon 2 of the PTHLH gene. Beside the known clinical features of PTHLH mutations all had a delay in speech and language development, unknown if this is related to the mutation. Patients with PTHLH mutation may have a variable phenotypic presentation.</p

School functioning in 8- to 18-year-old children born after in vitro fertilization

The aim of this study was to examine the school functioning of 8- to 18-year-old children born after in vitro fertilization (IVF). We compared 233 children born after IVF to 233 matched control children born spontaneously from parents with fertility problems on measures of education level, general cognitive ability, school performance (need for extra help, repeating a grade, special education), and rates of learning and developmental disorders. No differences were found between IVF and control children on these measures of school functioning. More than 60% of adolescents at secondary school attended high academic levels (with access to high school or university). We conclude that children and adolescents born after IVF show good academic achievement and general cognitive ability. They do not experience any more educational limitations than the naturally conceived children and adolescents of the control group. The tendency of reassuring school functioning already found in younger IVF children has been shown to continue at secondary school age

Implementation of MenACWY vaccination because of ongoing increase in serogroup W invasive meningococcal disease, the Netherlands, 2018.

The annual incidence rate of serogroup W invasive meningococcal disease in the Netherlands increased from < 0.05/100,000 (n < 10) before 2015 to 0.5/100,000 (n = 80) in 2017. Most isolates (94%) belong to clonal complex 11. The incidence rate is highest among  < 5 year-olds and 15-24 year-olds. The case fatality rate was 12% (17/138) in 2015-2017. From May 2018, MenACWY vaccination replaces MenC vaccination at age 14 months and from October 2018, 13-14 year-olds are offered MenACWY vaccination

Impact and cost-effectiveness of different vaccination strategies to reduce the burden of pneumococcal disease among elderly in the Netherlands

BACKGROUND: Streptococcus pneumoniae causes morbidity and mortality among all ages in The Netherlands. To reduce this burden, infants in The Netherlands receive the 10-valent pneumococcal conjugated vaccine (PCV10), but older persons are not targeted. We assessed the impact and cost-effectiveness of vaccination with 23-valent pneumococcal polysaccharide vaccine (PPV23) or 13-valent PCV (PCV13) among all those aged 60, 65 or 70 and/or in combination with replacing PCV10 with PCV13 in the infant vaccination programme.METHODS: A static cost-effectiveness model was parameterized including projected trends for invasive pneumococcal disease (IPD) and hospitalised community acquired pneumonia (CAP). The different strategies were evaluated using vaccine list prices and a 10-year time horizon. Incremental cost-effectiveness ratios (ICER) were calculated with the current strategy (infant vaccination program with PCV10) as reference.RESULTS: Compared to the reference, the largest impact on pneumococcal disease burden was projected with a combined use of PCV13 among infants and PPV23 at 60, 65 and 70 years, preventing 1,635 cases of IPD and 914 cases of CAP. The most cost-effective strategy was vaccinating with PPV23 at 70 years only with similar low ICERs at age 60 and 65. The impact of the use of PCV13 among infants depends strongly on the projected herd-immunity effect on serotype 19A. Vaccinating elderly with either PCV13 or PPV23 was dominated by PPV23 in all investigated scenarios, mainly due to the lower price of PPV23.CONCLUSION: Under the current assumptions, the best value for money is the use of PPV23 for elderly, with a single dose or at five year increment between age 60 to age 70.</p

Нарративное интервью в исследовании катамнеза внутренней картины болезни при шизофрении (клинико-психологический аспект)

Представлены особенности проведения клинического нарративного интервью как значимого метода в психодиагностике внутренней картины болезни (ВКБ) в катамнезе у больных шизофренией. Проведено комплексное психоанамнестическое, психодиагностическое, патоперсонологическое обследование больных параноидной шизофренией. Сформулированы стратегии и тактики проведения нарративного интервью с целью выявления особенностей их ВКБ.Наведено особливості проведення клінічного наративного інтерв'ю як визначального методу в психодіагностиці внутрішньої картини хвороби (ВКХ) у катамнезі у хворих на шизофренію. Проведено комплексне психоанамнестичне, психодіагностичне, патоперсонологічне обстеження хворих на параноїдну шизофренію. Сформульовано стратегії і тактики проведення наративного інтерв'ю з метою виявлення особливостей їх ВКХ.The peculiarities of clinical narrative interview as a significant method in psychodagnosis of the disease inner picture (DIP) in the history of patients with schizophrenia are presented. Complex psychoanamnestic, psychodiagnostic, pathopersonological investigation of patients with paranoid schizophrenia was performed. The strategies and tactics of narrative interview with the purpose to reveal DIP peculiarities were formulated