The Allocation of Money in Couples: The End of Inequality?

Untersuchungen in den 1980er und frühen 1990er Jahren haben gezeigt, dass innerhalb von Paarbeziehungen eine beträchtliche Ungleichheit der Geldarrangements und beim Zugang zu Geld für persönliche Ausgaben besteht. Die hier vorgelegten Analysen der Allokation von Geld in Paarbeziehungen gehen in zweierlei Hinsicht über die bisherigen Untersuchungen hinaus: Erstens erlauben die hier verwendeten Daten eine direkte, wenn auch grobe, Einschätzung des Geldbetrages, der jedem Partner für die persönlichen Ausgaben zur Verfügung steht. Zweitens können wir detailliert die Faktoren bestimmen, die die Verfügung über Geld für persönliche Ausgaben und somit auch mögliche Unterschiede zwischen Männern und Frauen in der Verfügung über Geld beeinflussen. Wir verwenden Daten des NIedrig-Einkommens-Panels (NIEP), einer repräsentativen Untersuchung von Haushalten, die in der ersten Panel-Welle im Jahr 1999 über ein Einkommen verfügten, das unter dem 1,5-fachen des damals gültigen Sozialhilfesatzes lag. In der unseren Auswertungen zugrunde liegenden vierten Welle waren einige Fragen zur Geldverwaltung enthalten. Unser Datensatz bezieht sich auf 718 Paarhaushalte mit und ohne Kinder. In den meisten Paarbeziehungen können beide Partner über den gleichen Geldbetrag verfügen, und wenn das nicht der Fall ist, verfügen Männer genauso häufig wie Frauen über mehr Geld als der Partner. Eine Reihe von Hypothesen über die Geldzuteilung in Paarbeziehungen wird getestet. Die gefundenen Effekte sind bei Männern und Frauen im Wesentlichen die gleichen. Die Verfügung über Geld verschiebt sich zu Gunsten des Mannes, wenn dieser höher qualifiziert ist als die Frau. Besonders ausgeprägt ist dieser Zusammenhang in Haushalten mit sehr geringem Einkommen.Research conducted in the 1980s and early 1990s showed considerable inequalities within male-female couples as concerns financial arrangements and access to personal spending money. This paper provides an analysis of the allocation of money in German couples that goes beyond previous research in two respects. First, data are used that permit direct, albeit only rough, assessments of the amount of personal spending money available to each of the partners. Second, it is therefore possible to investigate in some detail the factors that may influence the availability of personal spending money and thus also the possible differences between the woman and the man concerns the amount of money available to each of them. The empirical analysis is based on the German Low Income Panel (NIedrig-Einkommens-Panel, NIEP), a panel study representative of households with an income lower than about 1.5 times the German social assistance rate in 1999, the year of the first wave. We use the fourth wave of the NIEP, in which questions about couples' money management were added to the questionnaire. The data refer to those 718 households that consisted of an adult couple, with or without children. While not all couples allocate the same amount of money to each partner, there is no difference in the proportion of men and women who have more money at their disposal than their partners. A number of hypotheses are tested concerning the amount of money allocated to individual partners, and the effects are basically the same for men and women. Investigation of the effects on the within-couple differences in personal spending money shows that the balance shifts in favor of the male partner if his education is superior to that of the female partner. This holds specifically for couples with very low incomes

Natural history of multiple sulfatase deficiency: retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease.

Adang LA, Schlotawa L, Groeschel S, et al. Natural history of multiple sulfatase deficiency: retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease. Journal of inherited metabolic disease. 2020.BACKGROUND: Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder caused by pathogenic variants in SUMF1. This gene encodes formylglycine-generating enzyme (FGE), a protein required for sulfatase activation. The clinical course of MSD results from additive effect of each sulfatase deficiency, including metachromatic leukodystrophy (MLD), several mucopolysaccharidoses (MPS II, IIIA, IIID, IIIE, IVA, VI), chondrodysplasia punctata, and X-linked ichthyosis. While it is known that affected individuals demonstrate a complex and severe phenotype, the genotype-phenotype relationship and detailed clinical course is unknown.; METHODS: We report on 35 cases enrolled in our retrospective natural history study, n=32 with detailed histories. Neurologic function was longitudinally assessed with retrospective scales. Biochemical and computational modeling of novel SUMF1 variants was performed. Genotypes were classified based on predicted functional change, and each individual was assigned a genotype severity score.; RESULTS: The median age at symptom onset was 0.25years; median age at diagnosis was 2.7years; and median age at death was 13years. All individuals demonstrated developmental delay, and only a subset of individuals attained ambulation and verbal communication. All subjects experienced an accumulating systemic symptom burden. Earlier age at symptom onset and severe variant pathogenicity correlated with poor neurologic outcomes.; CONCLUSIONS: Using retrospective deep phenotyping and detailed variant analysis, we defined the natural history of MSD. We found that attenuated cases can be distinguished from severe cases by age of onset, attainment of ambulation, and genotype. Results from this study can help inform prognosis and facilitate future study design. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved

Mutations in TAF8 cause a neurodegenerative disorder

Wong et al. describe a severe neurodevelopmental disorder with progressive brain atrophy caused by variants in TAF8 coding for a subunit of the TFIID complex. Review of the literature reveals that loss of function mutations in other subunits of the TFIID complex are associated with similar phenotypes. TAF8 is part of the transcription factor II D complex, composed of the TATA-binding protein and 13 TATA-binding protein-associated factors (TAFs). Transcription factor II D is the first general transcription factor recruited at promoters to assemble the RNA polymerase II preinitiation complex. So far disorders related to variants in 5 of the 13 subunits of human transcription factor II D have been described. Recently, a child with a homozygous c.781-1G>A mutation in TAF8 has been reported. Here we describe seven further patients with mutations in TAF8 and thereby confirm the TAF8 related disorder. In two sibling patients, we identified two novel compound heterozygous TAF8 splice site mutations, c.45+4A > G and c.489G>A, which cause aberrant splicing as well as reduced expression and mislocalization of TAF8. In five further patients, the previously described c.781-1G > A mutation was present on both alleles. The clinical phenotype associated with the different TAF8 mutations is characterized by severe psychomotor retardation with almost absent development, feeding problems, microcephaly, growth retardation, spasticity and epilepsy. Cerebral imaging showed hypomyelination, a thin corpus callosum and brain atrophy. Moreover, repeated imaging in the sibling pair demonstrated progressive cerebral and cerebellar atrophy. Consistently, reduced N-acetylaspartate, a marker of neuronal viability, was observed on magnetic resonance spectroscopy. Further review of the literature shows that mutations causing a reduced expression of transcription factor II D subunits have an overlapping phenotype of microcephaly, developmental delay and intellectual disability. Although transcription factor II D plays an important role in RNA polymerase II transcription in all cells and tissues, the symptoms associated with such defects are almost exclusively neurological. This might indicate a specific vulnerability of neuronal tissue to widespread deregulation of gene expression as also seen in Rett syndrome or Cornelia de Lange syndrome

Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency

Schlotawa L, Tyka K, Kettwig M, et al. Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency. EMBO Molecular Medicine. 2023: e14837.Multiple sulfatase deficiency (MSD, MIM #272200) results from pathogenic variants in the SUMF1 gene that impair proper function of the formylglycine-generating enzyme (FGE). FGE is essential for the posttranslational activation of cellular sulfatases. MSD patients display reduced or absent sulfatase activities and, as a result, clinical signs of single sulfatase disorders in a unique combination. Up to date therapeutic options for MSD are limited and mostly palliative. We performed a screen of FDA-approved drugs using immortalized MSD patient fibroblasts. Recovery of arylsulfatase A activity served as the primary readout. Subsequent analysis confirmed that treatment of primary MSD fibroblasts with tazarotene and bexarotene, two retinoids, led to a correction of MSD pathophysiology. Upon treatment, sulfatase activities increased in a dose- and time-dependent manner, reduced glycosaminoglycan content decreased and lysosomal position and size normalized. Treatment of MSD patient derived induced pluripotent stem cells (iPSC) differentiated into neuronal progenitor cells (NPC) resulted in a positive treatment response. Tazarotene and bexarotene act to ultimately increase the stability of FGE variants. The results lay the basis for future research on the development of a first therapeutic option for MSD patients. © 2023 The Authors. Published under the terms of the CC BY 4.0 license

Figure 5

Figure 5. Family pedigrees from published cases. Fig.5a. COL4A2 c. 2399 G>A; p. G800E. Ref. Ha et al., 2016. Fig.5b. COL4A2 c. 3455 G>A; p. G1152D. Ref. Yoneda et al., 2012. Fig.5c. COL4A1 c. 1249G>C; p.G417R. Ref. Giorgio et al., 2015. Fig.5d. COL4A1 c.3796G>C; p.G1266R. Ref. Shah et al., 2012. Fig.5e: COL4A1 c.2662G>C; p.G888R. Ref. Giorgio et al., 2015. Fig.5f: COL4A1 p.G562E. Ref. Vahedi et al., 2003 and Vahedi et al., 2007. Fig.5g.: COL4A1 p. G749S. Ref. Gasparini et al., 2006. Fig.5h: COL4A1 c.3389G>A; p.G1130D. Ref. Breedved et al. 2006 Fig.5i: COL4A1 c.2159G>A. Ref. Tonduti et al., 2012. Fig.5j: COL4A1 c.3715G>A; p.G1239R. Ref. Takenouchi et al., 2015. Fig.5k: COL4A1 c. 2645G>A. Ref. Shah et al., 2012. Fig.5l: COL4A1 c.1973 G>A. Ref. Livingston et al., 2011. Fig.5m: COL4A1 c.4031G>C; p.G1344A. Ref. Leung et al., 2012. Fig.5n: COL4A2 c.3455G>A; p.G1152D. Ref. Yoneda et al., 2012. Fig.5o: COL4A1 c.2085del; p. G696fs. Ref. Lemmens et al., 2013. wt/m: wild-type/mutated

Additional material

Table 1 summarizes the methods of identification of COL4A1/2 mutations in the cohort of new patients. Table 2 reports the phenotypes of previously-published patients with COL4A1/2 mutations and epilepsy. Tables 3a/b describes the clinical, EEG and brain MRI data of the new cohort of patients with COL4A1/2 mutations. Additional Method describes immunohistochemistry performed from consented surplus resected tissue from 1 case

Data from: Neurologic phenotypes associated with COL4A1/2 mutations: expanding the spectrum of disease

Objective: To characterize the neurological phenotypes associated with COL4A1/2 mutations and to seek genotype-phenotype correlation. Methods We analyzed clinical, EEG and neuroimaging data of 44 new, and 55 previously reported patients with COL4A1/COL4A2 mutations. Results Childhood-onset focal seizures, frequently complicated by status epilepticus and resistance to anti-epileptic drugs, was the most common phenotype. EEG typically showed focal epileptiform discharges in the context of other abnormalities, including generalized sharp waves or slowing. In 46.4% of new patients with focal seizures, porencephalic cysts on brain MRI co-localized with the area of the focal epileptiform discharges. In patients with porencephalic cysts, brain MRI frequently also showed extensive white matter abnormalities, consistent with the finding of diffuse cerebral disturbance on EEG. Notably, we also identified a subgroup of patients with epilepsy as their main clinical feature, in which brain MRI showed non-specific findings, in particular periventricular leukoencephalopathy and ventricular asymmetry. Analysis of fifteen pedigrees suggested a worsening of the severity of clinical phenotype in succeeding generations, particularly when maternally inherited. Mutations associated with epilepsy were spread across COL4A1 and a clear genotype-phenotype correlation did not emerge. Conclusions COL4A1/COL4A2 mutations typically cause a severe neurological condition and a broader spectrum of milder phenotypes, in which epilepsy is the predominant feature. Early identification of patients carrying COL4A1/COL4A2 mutations may have important clinical consequences, whilst for research efforts, omission from large-scale epilepsy sequencing studies of individuals with abnormalities on brain MRI may generate misleading estimates of the genetic contribution to the epilepsies overall

European best practice guidelines for cystic fibrosis neonatal screening

There is wide agreement on the benefits of NBS for CF in terms of lowered disease severity, decreased burden of care, and reduced costs. Risks are mainly associated with disclosure of carrier status and diagnostic uncertainty. When starting a NBS programme for CF it is important to take precautions in order to minimise avoidable risks and maximise benefits. In Europe more than 25 screening programmes have been developed, with quite marked variation in protocol design. However, given the wide geographic, ethnic, and economic variations, complete harmonisation of protocols is not appropriate. There is little evidence to support the use of IRT alone as a second tier, without involving DNA mutation analysis. However, if IRT/DNA testing does not lead to the desired specificity/sensitivity ratio in a population, a screening programme based on IRT/IRT may be used. Sweat chloride concentration remains the gold standard for discriminating between NBS false and true positives, but age-related changes in sweat chloride should be taken into account. CF phenotypes associated with less severe disease often have intermediate or normal sweat chloride concentrations. Programmes should include arrangements for counselling and management of infants where the diagnosis is not clear-cut. All newborns identified by NBS should be managed according to internationally accepted guidelines. CF centre care and the availability of necessary medication are essential prerequisites before the introduction of NBS programmes. Clear explanation to families of the process of screening and of implications of normal and abnormal results is central to the success of CF NBS programmes. Effective communication is especially important when parents are told that their child is affected or is a carrier. When establishing a NBS programme for CF, attention should be given to ensuring timely and appropriate processing of results, to minimise potential stress for families