Collaboration, coordination and communication as facilitators of transitions for patients with advanced cancer: a scoping review linked to the Pal-Cycles project.

Background: Person-centred care is becoming increasingly recognised as an important element of palliative care. The current review syntheses evidence in relation to transitions in advanced cancer patients with palliative care needs. The review focuses on specific elements which will inform the Pal-Cycles programme, for patients with advanced cancer transitioning from hospital care to community care.

Applying Digital Health in Cancer and Palliative Care in Europe: Policy Recommendations from an International Expert Workshop (MyPal Project).

Digital health interventions are becoming increasingly important for adults, children, and young people with cancer and palliative care needs, but there is little research to guide policy and practice. To identify recommendations for policy development of digital health interventions in cancer and palliative care. Expert elicitation workshop.

Maternal-Fetal Surgery: Does Recognising Fetal Patienthood Pose a Threat to Pregnant Women's Autonomy?

Maternal-fetal surgery (MFS) encompasses a range of innovative procedures aiming to treat fetal illnesses and anomalies during pregnancy. Their development and gradual introduction into healthcare raise important ethical issues concerning respect for pregnant women's bodily integrity and autonomy. This paper asks what kind of ethical framework should be employed to best regulate the practice of MFS without eroding the hard-won rights of pregnant women.

Surrogacy and uterus transplantation using live donors: Examining the options from the perspective of 'womb-givers'.

For females without a functioning womb, the only way to become a biological parent is via assisted gestation-either surrogacy or uterus transplantation (UTx). This paper examines the comparative impact of these options on two types of putative 'womb-givers': people who provide gestational surrogacy and those who donate their uterus for live donation. The surrogate 'leases' their womb for the gestational period, while the UTx donor donates their womb permanently via hysterectomy.

Twin pregnancy reduction is not an 'all or nothing' problem: a response to Räsänen.

In his paper, 'Twin pregnancy, fetal reduction and the 'all or nothing problem', Räsänen sets out to apply Horton's 'all or nothing' problem to the ethics of multifetal pregnancy reduction from a twin to a singleton pregnancy (2-to-1 MFPR). Horton's problem involves the following scenario: imagine that two children are about to be crushed by a collapsing building. An observer would have three options: do nothing, save one child by allowing their arms to be crushed, or save both by allowing their arms to be crushed.

Reviewing the womb.

Throughout most of human history women have been defined by their biological role in reproduction, seen first and foremost as gestators, which has led to the reproductive system being subjected to outside interference. The womb was perceived as dangerous and an object which husbands, doctors and the state had a legitimate interest in controlling. In this article, we consider how notions of conflict surrounding the womb have endured over time.

Prenatal testing: Does reproductive autonomy succeed in dispelling eugenic concerns?

Traditionally, two main rationales for the provision of prenatal testing and screening are identified: the expansion of women's reproductive choices and the reduction of the burden of disease on society. With the number of prenatal tests available and the increasing potential for their widespread use, it is necessary to examine whether the reproductive autonomy model remains useful in upholding the autonomy of pregnant women or whether it allows public health considerations and even eugenic aims to be smuggled in under the smokescreen of autonomy. In this article I argue that if we are serious about upholding women's autonomy in the context of prenatal testing, what is needed is a model based on a more robust conception of reproductive autonomy, such as the one defended by Josephine Johnston and Rachel Zacharias as 'reproductive autonomy worth having'.

[Congenital hyperinsulinism--novel insights into etiology, diagnosis and treatment].

Congenital hyperinsulinism (CHI) is a major cause of persistent hypoglycemia in the neonatal and early infancy periods. Althought the disease is relatively rare with incidence of about 1:25 000-50 000 live births, the importance of the disease should not be underestimated. Namely, prompt recognition and management of patients with CHI is essential, if permanent neurological impairment is to be avoided.

Application of microsatellite loci on the chromosome X for rapid prenatal detection of the chromosome X numerical abnormalities.

Aim: To determine the value of short-tandem repeat markers on the chromosome X (X-STR) for prenatal diagnostics of the chromosome X numerical disorders.

Methods: We investigated the genetic variability of 5 X-markers (DXS9895, DXS6810, DXS6803, GATA172D05, and HPRTB) in 183 healthy Croatian individuals (90 men and 93 women). We also tested 13 patients with X chromosome disorders (Turner syndrome--6 cases; Klinefelter syndrome--5 cases, and Triple X syndrome--2 cases).

Pallister Killian syndrome: unusual significant postnatal overgrowth in a girl with otherwise typical presentation.

Pallister Killian syndrome (PKS) is a rare genetic disorder caused by tetrasomy of the short arm of chromosome 12, revealed usually in mosaic distribution of an extra i (12) (p10) chromosome in fibroblasts. The syndrome presents with a recognizable pattern of findings including pigmentary skin changes, coarse face, high forehead, sparse anterior scalp hair, hypertelorism, seizures and progressive psychomotor developmental delay. It was first described independently by Pallister in 1977 and by Killian and Teschler-Nikola in 1981.

Cytogenetics of multiple myeloma.

Great studies of multiple myeloma (MM) strongly suggested that specific chromosomal changes are of prognostic significance in patients with MM1. We have performed cytogenetic analysis and recently fluorescent in situ hybridization (FISH) on 43 cases of MM. Clonal chromosomal changes were present in 24 (56%) cases.

Successful treatment of diffuse large B-cell non-hodgkin lymphoma with modified CHOP (cyclophosphamide/doxorubicin/vincristine/prednisone) chemotherapy and rituximab in a patient with Nijmegen syndrome.

A 17-year-old Croatian boy with Nijmegen breakage syndrome (NBS) who developed diffuse large B-cell non-Hodgkin lymphoma is presented. The majority of the patients with this rare autosomal recessive disease are of Slavic origin and, in most of them, the disease is caused by NBS1 mutation 657del5, as was found in our patient. Nijmegen breakage syndrome is characterized by microcephaly, growth retardation, abnormal facial appearance, spontaneous chromosomal rearrangements, immunodeficiency, and a high predisposition to cancer development, predominantly lymphoma.

Rapid prenatal diagnosis of numerical aberrations of chromosome 21 and 18 by PCR-STR method.

In this study we reported the results for the first time of applying Polymerase Chain Reaction-Short Tandem Repeats (PCR-STR) method in the field of detection of aneuploidies for chromosomes 21 and 18 in Croatians. The aims of the study were: (I) validation of the diagnostic informativeness of 6 STR loci (D18S51, D18S858, D18S535, D21S1435, D21S1411, and D21S1414) in sample of 205 unrelated healthy individuals; (II) evaluation of diagnostic power of the PCR-STR method for those 6 microsatellites; (III) establishment protocol for use STRs as routine method for rapid prenatal detection of trisomy 21 and 18. DNA samples were amplified by fluorescence-based PCR reaction, subjected to electrophoresis in automated laser fluorescence DNA sequencer (ALFexpress).

[Glutaric aciduria type 1: an example of the importance of early detection of so-called cerebral organic aciduria].

Glutaric aciduria type 1 (GA 1) is a preventable cause of acute brain damage in early childhood, leading to a severe dystonic-dyskinetic disorder. Typically between 6 and 18 months of age, a non-specific illness such as respiratory or gastrointestinal infection or immunization leads to encephalopathic crisis, usually resulting in degeneration of the putamen and caudate. GA 1 is an autosomal recessive disease of catabolism of amino acids lysine, hydroxylysine and tryptophane leading to accumulation of glutaric acid, 3-hydroxyglutaric acid and glutaconic acid.

Small supernumerary marker chromosome derived from proximal p-arm of chromosome 2: identification by fluorescent in situ hybridization.

Conventional cytogenetics detected an interstitial deletion of proximal region of p-arm of chromosome 2 in a 6-month-old boy with a phenotype slightly resembling Down's syndrome. The deletion was inherited from the father, whose karyotype revealed a small ring-shaped marker chromosome, in addition to interstitial deletion. Fluorescence in situ hybridization identified the marker, which consisted of the proximal region of the p-arm of chromosome 2, including a part of its centromere.

Molecular analysis and electromyoneurographic abnormalities in Croatian children with proximal spinal muscular atrophies.

Childhood onset proximal spinal muscular atrophy presents with considerable clinical variability. This study included 14 Croatian children aged 11 days to 8 years with spinal muscular atrophy types I-III verified clinically and electromyoneurographically. DNA of affected children was screened for deletions of exons 7 and 8 of the survival motor neuron gene and for deletion of exon 5 of the neuronal apoptosis inhibitor protein gene.

Partial trisomy 13 in an infant with a mild phenotype: application of fluorescence in situ hybridization in cytogenetic syndromes.

We report on a month-old infant with dysmorphic face and several anomalies known to be associated with trisomy 13. Fluorescence in situ hybridization (FISH) studies performed on metaphase cells allowed us to identify an extra material on the short arm of the chromosome 13 as a duplication of 13q22-qter.

[The Goltz-Gorlin syndrome in a male child].

A one-year-old boy with focal dermal hypoplasia (Goltz syndrome) is reported in this paper. Numerous malformations (coloboma of the iris, syndactylia, pyelon and urether duplex 1. sin, cystouretheral reflux, hypospadia), typical changes on the skin, numerous papillomas and psychomotoric retardation have been found.