[Familial congenital diaphragmatic hernia with anencephly-exencephaly and spina bifida]. / Rodzinne wystepowanie wrodzonej przepukliny przeponowej z wada dystroficzna i bezczaszkowiem.

Congenital Diaphragmatic Hernia (CDH) occurs with an estimated incidence of 1 to 2500 live births. Even though the exact etiology is still unknown, more and more often current research points out genetic factors as the possible cause of the defect. According to the latest data and the own experience 50-60% of CDH cases are isolated. The rest forms a group of CDH complicated by an additional anatomic defect or a genetic syndrome caused by a mutation of a single gene or the whole chromosome. We have presented a case study of a 32 years-old multigravida para 3, who has been referred to the Reference Centre of Prenatal Cardiology in 30 weeks of gestation due to the diagnosis of acrania with exencephaly, spina bifida and suspicion for CDH in a fetus. Although the patient's first child died due to CDH, the patient neither before nor during the pregnancy was getting a folic acid supplementation. Moreover, she has not agreed on a further cytogenetic testing or an advanced consultation with a clinical geneticist. The child died after delivery in a local hospital. The case was described to indicate the problem that the CDH diagnostic procedure is still missing a molecular genetic analysis especially in the cases of recurrent CDH. By saying that in the cases of CDH we should always strive to complete the molecular testing having in mind that by discovering pathogenesis and genes responsible for the formation of CDH we not only might improve the therapeutic methods but also find a way to prevent its development.

Beneficial Effects of the Ketogenic Diet on Nonalcoholic Fatty Liver Disease (NAFLD/MAFLD).

The prevalence of nonalcoholic fatty liver disease (NAFLD) is likely to be approaching 38% of the world's population. It is predicted to become worse and is the main cause of morbidity and mortality due to hepatic pathologies. It is particularly worrying that NAFLD is increasingly diagnosed in children and is closely related, among other conditions, to insulin resistance and metabolic syndrome. Against this background is the concern that the awareness of patients with NAFLD is low; in one study, almost 96% of adult patients with NAFLD in the USA were not aware of their disease. Thus, studies on the therapeutic tools used to treat NAFLD are extremely important. One promising treatment is a well-formulated ketogenic diet (KD). The aim of this paper is to present a review of the available publications and the current state of knowledge of the effect of the KD on NAFLD. This paper includes characteristics of the key factors (from the point of view of NAFLD regression), on which ketogenic diet exerts its effects, i.e., reduction in insulin resistance and body weight, elimination of fructose and monosaccharides, limitation of the total carbohydrate intake, anti-inflammatory ketosis state, or modulation of gut microbiome and metabolome. In the context of the evidence for the effectiveness of the KD in the regression of NAFLD, this paper also suggests the important role of taking responsibility for one's own health through increasing self-monitoring and self-education.

Liver herniation into the pericardium mimicking a pericardial tumor: unusual presentation of trisomy 13.

Aim of the study: Trisomy 13 is the third most common autosomal trisomy. The following case report shows an atypical case of trisomy 13, highlighting the usefulness of 3D volume storage and reconstruction, and the necessity of careful interpretation of the first trimester screening results. Case description: The results of the first trimester screening tests were interpreted as normal, and invasive tests were not recommended. At 21 weeks, a bright spot in the left ventricle was noted, and fetal echocardiography was performed at 33 weeks. The scan showed a massive pericardial effusion and a pericardial tumor located in front of the right ventricle. Conclusions: The final diagnosis, made postnatally, revealed an atypical right-sided diaphragmatic hernia. Part of the liver was displaced to the pericardial cavity, mimicking a pericardial tumor in a baby with trisomy 13. Following the diagnosis of the lethal disorder, the baby was discharged under a home-based palliative care program and died on the 49th day of life.