Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.

Cardiac involvement (CI) in phosphomannomutase 2-congenital disorders of glycosylation (PMM2-CDG) is part of the multisystemic presentation contributing to high mortality rates. The most common cardiac manifestations are pericardial effusion, cardiomyopathy, and structural heart defects. A genotype-phenotype correlation with organ involvement has not yet been described.

The Impact of Hospital Pharmacy Operation on the Quality of Patient Care.

This paper presents the role, tasks, and place of a hospital pharmacy in the structure of the entire facility. The role of hospital drug management and pharmacy seems to be extremely important in providing patients with high-quality care. Particular emphasis was placed on the distribution systems of medicinal products and medical devices in the hospital.

Knee pain as a reason for referral to a paediatric rheumatologist: A retrospective study.

Aim: Knee pain is the most frequently reported type of lower extremity pain among children and adolescents. The objective of this study was to establish the features distinguishing inflammatory knee pain from non-inflammatory knee pain and to determine the specific variables to consider in suspected juvenile idiopathic arthritis (JIA).

Methods: A retrospective chart review was performed among children with knee pain evaluated through paediatric rheumatology consultations at a single centre between 2012 and 2019.

Measurement Invariance of the WHO-5 Well-Being Index: Evidence from 15 European Countries.

(1) The World Health Organization (WHO)-5 Well-Being Index has been used in many epidemiological studies to assess adolescent mental well-being. However, cross-country comparisons of this instrument among adolescents are scarce and, so far, no good-fitting, common invariant measurement model across countries has been reported. The present study aims to evaluate and establish a version of the WHO-5 Well-Being Index that allows for a valid cross-country comparison of adolescent self-reported mental well-being.

Use of single pill combinations in the treatment of arterial hypertension in Poland: The current practice and guidelines, the impact on reimbursement spending and patient co-payment.

Background: Clinical guidelines recommend using single pill combinations (SPC) when initiating and intensifying the treatment of arterial hypertension (AH), which is not reflected in the Summaries of Product Characteristics (SMPC) for individual preparations. The drug reimbursement system in Poland (with a few exceptions) does not provide for reimbursement outside the indications specified in the SMPC. Therefore, it excludes the use of SPC under reimbursement.

Association between the Concentrations of Essential and Toxic Elements in Mid-Trimester Amniotic Fluid and Fetal Chromosomal Abnormalities in Pregnant Polish Women.

The present study aimed to investigate the relationship between the concentrations of essential and toxic elements present in the amniotic fluid (AF) and fetal chromosomal abnormalities in pregnant women. A total of 156 pregnant white Polish women aged between 20 and 43 years and screened to detect high risk for chromosomal defects in the first trimester were included in the study. AF samples were collected from these women during routine diagnostic and treatment procedures at mid-gestation (15-22 weeks of their pregnancies).

Multidisciplinary Care of Patients with Inherited Metabolic Diseases and Epilepsy: Current Perspectives.

More than 650 inherited metabolic diseases may present with epilepsy or seizures. These diseases are often multisystem, life-long and induce complex needs of patients and families. Multidisciplinary care involves all stages of disease management: diagnostics, specific or symptomatic, acute and chronic treatments, and integrated care that takes into account not only medical, but also manifold psychosocial, educational, vocational and other needs of patients and their caregivers.

Twin-to-twin transfusion syndrome complicated with in utero limb ischemia of the donor twin - a case report.

Background: In utero limb ischemia is a rare complication of the monochorionic twin pregnancies complicated with twin to twin transfusion syndrome (TTTS). The condition is more often seen in recipient twins. There are few theories of the pathogenesis including in utero venous thromboembolism, but the cause remains unclear.

How does terminal 21q22 deletion really manifest? Delineation based on prenatal diagnosis and literature review.

Objective: Most genetic disorders, especially rare and manifested with an unspecific constellation of developmental anomalies, are challenging to diagnose before birth. The paper aims to present a rare case of terminal 21q22 deletion to extend the knowledge on this rare genetic disease, mostly to facilitate prenatal guidance by pointing the diagnostic features.

Case Report: The fetus was diagnosed prenatally, at 21 weeks of gestation, due to ultrasound markers detected in a routine ultrasound scan.

The Presence of Mycotoxins in Human Amniotic Fluid.

Mycotoxin exposure assessments through biomonitoring studies, based on the analysis of amniotic fluid, provides useful information about potential exposure of mothers and fetuses to ubiquitous toxic metabolites that are routinely found in food and the environment. In this study, amniotic fluid samples (n = 86) were collected via abdominal amniocentesis at 15-22 weeks of gestation from pregnant women with a high risk of chromosomal anomalies or genetic fetal defects detected during 1st trimester prenatal screening. These samples were analyzed for the presence of the most typical , and mycotoxins, with a focus on aflatoxins, ochratoxins and trichothecenes, using the LC-FLD/DAD method.

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

PMM2-CDG is the most common congenital disorder of glycosylation (CDG) accounting for almost 65% of known CDG cases affecting N-glycosylation. Abnormalities in N-glycosylation could have a negative impact on many endocrine axes. There is very little known on the effect of impaired N-glycosylation on the hypothalamic-pituitary-adrenal axis function and whether CDG patients are at risk of secondary adrenal insufficiency and decreased adrenal cortisol production.

Demographic analysis of difficulties related to remote education in Poland from the perspective of adolescents during the COVID-19 pandemic.

Introduction And Objective: Due to the COVID-19 pandemic all schools in Poland were closed and obliged to conduct lessons remotely. The aim of the study is to present the demographic analysis of difficulties with remote learning, as perceived by students during coronavirus pandemic in Poland.

Material And Methods: In April 2020, a nationwide online survey was conducted among adolescents aged 11-18 (N=2408).

A placental trisomy 2 detected by NIPT evolved in a fetal small Supernumerary Marker Chromosome (sSMC).

Background: Non-invasive prenatal testing (NIPT) is a rapidly developing and widely used method in the prenatal screening. Recently, the widespread use of the NIPT caused a neglecting of the limitations of this technology.

Case Presentation: The 38-year-old woman underwent amniocentesis because of a high risk of trisomy 2 revealed by the genome-wide Non-Invasive Prenatal Test (NIPT).

Risk factors for unsuccessful vaginal birth after caesarean at full dilatation.

Objectives: The purpose of this study was to determine the risk factors for caesarean sections in the second stage of labour after a previous caesarean section among women who underwent trial of labour (TOL).

Material And Methods: From a total of 639 women who experienced one caesarean section, 456 women were qualified for TOL. From this group, 105 women were subjected to a caesarean section in the first stage of labour and another 351 women reached the second stage of labour.

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.

Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1-CDG. PGM1-CDG usually manifests as a multisystem disease.

A Review of Rare Disease Policies and Orphan Drug Reimbursement Systems in 12 Eurasian Countries.

Despite international initiatives on collaboration within the field of rare diseases, patient access to orphan medicinal products (OMPs) and healthcare services differ greatly between countries. This study aimed to create a comprehensive and in-depth overview of rare diseases policies and reimbursement of OMPs in a selection of 12 countries in the Western Eurasian region: Armenia, France, Germany, Kazakhstan, Latvia, The Netherlands, Poland, Romania, Russia, Turkey, Ukraine, and the United Kingdom. A systematic literature review was performed and an analysis of publicly available legislative and rare disease health policy data was undertaken in five focus areas: rare disease definition, newborn screening, registries, national plans, access to/reimbursement of OMPs.

Antenatal depression and anxiety in primiparous Polish mothers and fathers.

Objectives: Mood disturbances are the most prevalent mental health problems in expectant parents. The knowledge about the factors which increase the risk of perinatal depression is insufficient, especially in fathers. The aims of the present study were to estimate the prevalence and to compare mean levels of antenatal depression and anxiety as well as to examine the relationship between the risk for depression and anxiety in primiparous Polish parents.

Changes in physical activity of adolescent girls in the context of their perception of the Healthy Me programme.

Background: An assumption was made that results of programme evaluation lead to better understanding for whom this intervention may work. The aim of the article is to compare the changes in physical activity of the intervention programme participants depending on subjective assessment of its impact.

Methods: The data were obtained from 14- to15-year-old Polish girls (N = 1120) from 48 random selected secondary schools participating in the 1-year Healthy Me programme in the 2017/2018.

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Phosphomannomutase 2 (PMM2-CDG) is the most common congenital disorder of N-glycosylation and is caused by a deficient PMM2 activity. The clinical presentation and the onset of PMM2-CDG vary among affected individuals ranging from a severe antenatal presentation with multisystem involvement to mild adulthood presentation limited to minor neurological involvement. Management of affected patients requires a multidisciplinary approach.

Multi-Criteria Decision Analysis (MCDA) Models in Health Technology Assessment of Orphan Drugs-a Systematic Literature Review. Next Steps in Methodology Development?

Multi-criteria decision analysis (MCDA) is a decision-making tool that can take into account multidimensional factors and enables comparison of (medical) technologies by combining individual criteria into one overall appraisal. The MCDA approach has slowly gained traction within Health Technology Assessment (HTA) and its elements are gradually being incorporated into HTA across Europe. Several groups of scientists have proposed MCDA approaches targeted toward orphan drugs and rare diseases by including criteria specific to rare diseases.

The Association Between Physical Activity and General Life Satisfaction in Lower Secondary School Students: The Role of Individual and Family Factors.

The objective of the paper was to investigate the association between PA and general life satisfaction in adolescents, taking into account family affluence and selected psychological, family and school factors. The survey (2015) involved 4085 Polish lower-secondary school students. Life satisfaction was measured with the abridged Students' Life Satisfaction Scale (SLSS).