[Best possible start for child and parent].

The health of women during the periconception period and pregnancy is important for a healthy start of the child. All care providers can make a major contribution to this. In this learning article we provide answers to a number of questions that have been collected from the professional field about preconception care and care for vulnerable pregnant women.

Comparison of the CollaboRATE and SDM-Q-9 questionnaires to appreciate the patient-reported level of shared decision-making.

Objective: To compare CollaboRATE and SDM-Q-9 questionnaires when appreciating patient-perceived level of shared decision-making (SDM) in doctor-patient consultations.

Methods: Data were harvested from five separate studies on SDM, conducted in three university and one large community hospital in the Netherlands, using Dutch versions of both questionnaires. CollaboRATE and SDM-Q-9 scores were expressed as percentages.

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

Biogenesis of the mitochondrial oxidative phosphorylation system, which produces the bulk of ATP for almost all eukaryotic cells, depends on the translation of 13 mtDNA-encoded polypeptides by mitochondria-specific ribosomes in the mitochondrial matrix. These mitoribosomes are dual-origin ribonucleoprotein complexes, which contain mtDNA-encoded rRNAs and tRNAs and ∼80 nucleus-encoded proteins. An increasing number of gene mutations that impair mitoribosomal function and result in multiple OXPHOS deficiencies are being linked to human mitochondrial diseases.

Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.

Autosomal recessive cutis laxa (ARCL) is a connective tissue disorder characterized by wrinkled, inelastic skin, frequently associated with a neurologic involvement and multisystem disease. Next generation sequencing was performed in genetically unsolved patients with progeroid features, neurological and eye involvement to assess the underlying etiology. We describe an 6 month old child, diagnosed with a novel, homozygous nonsense mutation c.

Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy.

Duplications on Xq28 are common, although quite variable in size, but usually include the MECP2 gene. Here, we present a patient with a unique, small, 167-kb duplication at Xq28, not including MECP2. The most important gene in the duplicated region was IKBKG, mutations in which can cause a variety of distinct syndromes.