[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.

A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract.

Cutis laxa (CL) is a connective tissue disorder, characterized by loose, inelastic, sagging skin. Both acquired and inherited (dominant, recessive, and X-linked) forms exist. Here, we describe a new phenotype, which overlaps with other known CL syndromes.

Abnormal fat distribution in PMM2-CDG.

We hypothesize that abnormal fat distribution, a common feature of PMM2-CDG, is associated with abnormal perinatal hormone regulation. We assessed 32 cases with PMM2-CDG, for the comorbidity of hypoglycemia/hyperinsulinism and fat pads. Ninety percent of patients with hypoketotic hypoglycemia and/or hyperinsulinism had abnormal fat distribution, while normoglycemic patients showed this feature in 50% of the cases.

Candida parapsilosis: a review of its epidemiology, pathogenesis, clinical aspects, typing and antimicrobial susceptibility.

The Candida parapsilosis family has emerged as a major opportunistic and nosocomial pathogen. It causes multifaceted pathology in immuno-compromised and normal hosts, notably low birth weight neonates. Its emergence may relate to an ability to colonize the skin, proliferate in glucose-containing solutions, and adhere to plastic.

Correlation of restriction fragment length polymorphism genotyping with internal transcribed spacer sequence, randomly amplified polymorphic DNA and multilocus sequence groupings for Candida parapsilosis.

Epidemiological studies of Candida parapsilosis have been performed by molecular methods. To compare two prominent methods, 29 isolates, typed by multilocus sequence typing (MLST), were typed by restriction fragment length polymorphism (RFLP). Of the 19 proposed Candida parapsilosis sensu stricto isolates [group I by internally transcribed spacer (ITS1) sequence], the most commonly encountered species, 17 were RFLP type VII-1.

The echinocandin caspofungin impairs the innate immune mechanism against Candida parapsilosis.

Since caspofungin inhibits fungal cell wall beta-glucan synthesis and the fungal cell wall plays an important role in the recognition of Candida by phagocytic cells, we studied phagocytosis in the presence of caspofungin. The aim of this work was to investigate the effect of pre-treatment of Candida parapsilosis with caspofungin on phagocytic mechanisms (opsonisation, oxidative burst, phagocytosis and killing). C.

Molecular epidemiology of the global and temporal diversity of Candida parapsilosis.

We examined the global epidemiology of C. parapsilosis and assessed the discriminatory capabilities of restriction fragment length polymorphism (RFLP) and RAPD typing methods. We used EcoRI digestion of cellular DNA to generate RFLP; RAPD analysis on genomic DNA.

Significant differences in drug susceptibility among species in the Candida parapsilosis group.

Candida parapsilosis family has 3 proposed species: C. parapsilosis sensu stricto, Candida orthopsilosis, and Candida metapsilosis. C.

Candida parapsilosis fungemia in neonates: genotyping results suggest healthcare workers hands as source, and review of published studies.

An outbreak of Candida parapsilosis fungemia involving 17 neonatal intensive care unit (NICU) patients was studied. There were 14 blood culture and nine colonizing isolates from other sites available. The hands of NICU healthcare workers (HCW) yielded eight isolates.

Resistance of uropathogens in symptomatic urinary tract infections in León, Nicaragua.

Management of urinary tract infections (UTI) in Central America and especially Nicaragua, is complicated by the lack of knowledge about the antibiotic resistance of uropathogens. We conducted a prevalence study to gain more insight into the aetiology, bacterial resistance and risk factors for symptomatic UTI in the region of León, Nicaragua. In 2002, all consecutive patients with UTI symptoms and pyuria >/=10 WBC/hpf were admitted to the study.