In Joubert syndrome, the "molar tooth" sign can be associated with several additional supra- and infratentorial malformations. Here we report on 3 subjects (2 siblings, 8-14 years of age) with ...Joubert syndrome, showing an abnormal thick bulging of the anterior profile of the mesencephalon causing a complete obliteration of the interpeduncular fossa. DTI revealed that the abnormal tissue consisted of an ectopic white matter tract with a laterolateral transverse orientation. Tractographic reconstructions support the hypothesis of impaired axonal guidance mechanisms responsible for the malformation. The 2 siblings were compound heterozygous for 2 missense variants in the
gene, while no mutations in a panel of 120 ciliary genes were detected in the third patient. The name "anterior mesencephalic cap dysplasia," referring to the peculiar aspect of the mesencephalon on sagittal MR imaging, is proposed for this new malformative feature.
Se implementó el método numérico de diferencias finitas con el fin de hallar la deflexión de una viga hiperestática y se comprobó que este resultado se asemeja a los resultados del cálculo exacto de ...doble integración. El estudio se realizó en base a la metodología descriptiva, la cual consistió primero escoger una viga hiperestática, para posteriormente calcular la deflexión de la misma mediante el método de doble integración y mediante método numérico de diferencias finitas que resuelve la ecuación diferencial de orden superior. El método de diferencias finitas implementado en Python para calcular la deflexión de una viga, es una forma muy eficiente de obtener los resultados muy precisos en el menor tiempo posible.
We generated iPSC line using skin fibroblasts obtained from a female patient affected by Joubert syndrome, caused by two compound heterozygous variants (c.143G > A; p.Gly48Glu and c.1784 T > G; ...p.Leu595Ter) in CPLANE1. We used Sendai-virus-based technique for reprogramming and then we applied karyotype analysis, to exclude possible acquired big rearrangements. We verified the presence of the same STR profile as fibroblasts, the stem cell state (by immunofluorescence and qPCR) and, finally, the pluripotency state (by in vitro trilineage differentiation).
Background and purpose
Mutations in the PLA2G6 gene are causative of PLA2G6‐associated neurodegeneration (PLAN), a spectrum of neurodegenerative conditions including infantile, childhood and adult ...onset forms.
Methods
Seventeen North African patients with a clinical suspicion of infantile‐onset PLAN underwent clinical, neurophysiological and neuroimaging examinations, and PLA2G6 sequencing. Haplotype analysis was performed to date the identified founder mutation.
Results
All patients carried biallelic mutations in PLA2G6. Sixteen children had the commonest form of infantile‐onset PLAN, with early onset of psychomotor regression, hypotonia, pyramidal and cerebellar signs, and abnormal ocular movements. The phenotype was highly homogeneous, with rapid development of severe spastic tetraparesis, cognitive impairment and optic atrophy. Neuroimaging showed cerebellar atrophy and claval hypertrophy to be the commonest and earliest signs, whilst cerebellar cortex hyperintensity and pallidal iron deposition were later findings. Motor or sensory‐motor neuropathy and electroencephalogram fast rhythms were also frequent. Nine patients from six families shared the same founder mutation (p.V691del) which probably arose by the late seventeenth century. Only one patient fitted the diagnosis of the much rarer childhood‐onset PLAN. Despite the early onset (18 months), clinical progression was slower, with behavioral disturbances and dystonia. Typical features of infantile‐onset PLAN such as hypotonia, nystagmus/strabismus, optic atrophy, electroencephalogram fast rhythms and motor neuropathy were absent. Cerebellar atrophy, claval hypertrophy and pallidal hypointensity were evident at brain magnetic resonance imaging. This patient carried a missense variant predicted to be less deleterious.
Conclusions
The PLAN‐associated phenotypes and the challenges of diagnosing the childhood‐onset form are delineated, and a common North African founder mutation is identifed.
Mutations in the PINK1 gene cause autosomal recessive parkinsonism characterized by early onset and a variable phenotypic presentation. A patient homozygous for the Ala168Pro mutation has been fully ...characterized clinically. Apart from onset at age 39 years and the excellent and sustained response to levodopa, all clinical and laboratory features, including SPECT and assessment of autonomic function, were indistinguishable from typical idiopathic Parkinson disease.
Background
Multi-country studies assessing the quality of maternal and newborn care (QMNC) during the COVID19 pandemic, as defined by WHO Standards, are lacking.
Methods
Women who gave birth in 12 ...countries of the WHO European Region from March 1, 2020 - March 15, 2021 answered an online questionnaire, including 40 WHO Standard-based Quality Measures.
Results
21,027 mothers were included in the analysis. Among those who experienced labour (N = 18,063), 41.8% (26.1%- 63.5%) experienced difficulties in accessing antenatal care, 62% (12.6%-99.0%) were not allowed a companion of choice, 31.1% (16.5%-56.9%) received inadequate breastfeeding support, 34.4% (5.2%-64.8%) reported that health workers were not always using protective personal equipment, and 31.8% (17.8%-53.1%) rated the health workers' number as "insufficient". Episiotomy was performed in 20.1% (6.1%-66.0%) of spontaneous vaginal births and fundal pressure applied in 41.2% (11.5% -100%) of instrumental vaginal births. In addition, 23.9% women felt they were not treated with dignity (12.8%-59.8%), 12.5% (7.0%-23.4%) suffered abuse, and 2.4% (0.1%-26.2%) made informal payments. Most findings were significantly worse among women with prelabour caesarean birth (N = 2,964). Multivariate analyses confirmed significant differences among countries, with Croatia, Romania, Serbia showing significantly lower QMNC Indexes and Luxemburg showing a significantly higher QMNC Index than the total sample. Younger women and those with operative births also reported significantly lower QMNC Indexes.
Conclusions
Mothers reports revealed large inequities in QMNC across countries of the WHO European Region. Quality improvement initiatives to reduce these inequities and promote evidence-based, patient-centred respectful care for all mothers and newborns during the COVID-19 pandemic and beyond are urgently needed.
Funding: The study was financially supported by the Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
The objective of this work was to evaluate the nutritional parameters of young bulls supplemented with different ratios of protein: carbohydrate on tropical pastures from 4 until 18 months old. ...Fifty-five non-castrated beef calves (138.3±3.4 kg, 90 to 150 d of age) were used. The calves (young bulls) were subjected to a 430-d experimental period encompassing 4 seasons. The treatments were as follows: control, only mineral mixture; HPHC, high protein and high carbohydrate supplement; HPLC, high protein and low carbohydrate supplement; LPHC, low protein and high carbohydrate supplement; and LPLC, low protein and low carbohydrate supplement. The amount of supplement was adjusted every 28 d. Dry matter (DM) intake was higher in the dry-to-rainy transition and rainy seasons for all nutritional plans. Non-supplemented animals had lower intakes of DM and total digestible nutrients (TDN) than supplemented young bulls in all seasons. Although differences in DM intake were not observed between supplemented animals, the supplements with high carbohydrate (HPHC and LPHC) had lower forage intake during suckling (rainy-to-dry transition season) and in the rainy season. However, the HPHC treatment animals had higher intake and digestibility of neutral detergent fiber. It can be concluded that supplementation with high protein levels (supplying 50% of the crude protein requirement) provide the best nutritional parameters for grazing young bulls in most seasons, increasing intake and digestibility of diet, and these effects are more intense when associated with high carbohydrate levels level (supplying 30% TDN requirement).
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