Journal of mother and child最新文献

Behçet's disease (BD, also called Behçet's syndrome) is a complex, chronic, and multisystemic disorder characterised by recurrent oral and genital ulcers, skin lesions, and various other systemic manifestations due to underlying vasculitis. This review examines the symptoms, pathology, genetic factors, and treatment approaches associated with BD. The syndrome mainly affects populations in the Mediterranean region, the Middle East, and East Asia, with varying prevalence rates in different countries. Pathologically, BD is characterized by neutrophil infiltration and endothelial cell damage, which can lead to complications such as thrombosis and aneurysms. Genetic predisposition plays an important role - particularly via the HLA-B*51 allele - while additional non-HLA-related genetic and environmental influences further increase susceptibility to the disease. Treatment strategies have focussed on reducing inflammation and managing symptoms through a range of medications, including corticosteroids, TNFα inhibitors and emerging biologics. Recent research has highlighted the potential of microRNAs in regulating inflammatory pathways, as well as their role as biomarkers for diagnosis and treatment. Ongoing studies aim to optimize therapeutic approaches and improve treatment outcomes for this challenging disease.

Background: The aim of this study was to investigate the genetic and epidemiological aspects of Louis-Bar syndrome transmission in the population of Kyrgyzstan, with a particular focus on the impact of consanguineous marriages.

Methods: The study presents a clinical case of a family with three children affected by this disorder. All children exhibited characteristic manifestations, including progressive cerebellar ataxia of varying severity; conjunctival and cutaneous telangiectasias; recurrent infections; and delayed psychomotor development. In the eldest child, the clinical presentation resembled the ataxic form of cerebral palsy. Standardised scales assessing motor, manual, and communicative functions were used to evaluate the severity of ataxia.

Results: Brain magnetic resonance imaging confirmed cerebellar atrophy in the eldest child and cerebellar subatrophy in the middle and youngest children. All children demonstrated telangiectasias on the mucous membranes of the eyes and skin, as well as signs of immunodeficiency manifesting as frequent infections. Family pedigree analysis revealed consanguinity in the third generation (the maternal grandmother and paternal grandfather were biological siblings). Molecular genetic testing identified a homozygous c.5932G > A mutation in the ATM gene encoding a protein involved in DNA repair.

Conclusion: The findings confirm that consanguineous unions increase the risk of developing Louis-Bar syndrome, as they elevate the likelihood of inheriting identical mutant alleles. This study highlights the importance of medical-genetic counselling and prenatal diagnostics in families at high risk of hereditary diseases, particularly in regions with a high prevalence of consanguineous marriages.

Background: Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an inborn error of metabolism resulting in the absence or reduced activity of the enzyme responsible for the β-oxidation of medium-chain fatty acids. MCAD deficiency can lead to metabolic decompensation, presenting as hypoketotic hypoglycaemia, hepatic encephalopathy (Reye-like syndrome), or death regardless of the patient's age.

Material and methods: Blood samples in the national newborn screening programme were collected using 903 filter paper (dry blood spot - DBS). Routine dried blood spots from newborn screening (NBS) were analysed by flow injection and derivatised tandem mass spectrometry method (MS/MS). Positive screening cases in the MCAD deficiency profile were verified through GC/MS urine organic acid profiling and enzymatic and/or molecular testing.

Results: A total of 3,806,166 newborns were screened between 2014-2024, resulting in the identification of 94 cases of MCAD deficiency. Analysis of the obtained results revealed a consistent pattern in the levels of octanoylcarnitine (C8), hexanoylcarnitine (C6), and decanoylcarnitine (C10) acylcarnitines, as well as the C8/C10 ratio across these cases. Only one case of confirmed MCAD deficiency with an atypical acylcarnitine profile was found.

Conclusions: The use of tandem mass spectrometry has enabled the inclusion of MCAD deficiency in newborn screening programmes. This has facilitated early detection, diagnosis, and initiation of therapeutic interventions to prevent metabolic decompensation. We emphasize the need for repeated sampling and further testing if C8 is even slightly elevated.

Objective: Recurrent Pregnancy Loss (RPL) is a significant pregnancy complication with a multifactorial aetiology and is a vital reproductive health concern that globally affects 2-5% of women. Polymorphic gene variation causes alteration in FOXP3 gene that impairs the Treg cells which leads to complications in pregnancy outcome. Thus, we aimed to study an association between FOXP3 polymorphic variations (rs3761548 and rs3761549) and RPL.

Material and methods: This case control study comprised of 120 RPL cases and 150 healthy multiparous women as control group with at least one full term pregnancy and no history of pregnancy loss matched to cases according to age and geographic origins. Genotyping for FOXP3 was analyzed by polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP).

Results: Significantly higher frequency of FOXP3 -3279 C/A (rs 3761548)heterozygous AC and homozygous AA was found in RPL cases than controls (63.3% vs. 46%, O.R = 2.53): p = 0.0006 and (11.7% vs. 8%; O.R 2.68): p = 0.03 respectively. Moreover, the dominant model (AC +AA) and allele A were seen implicated more in RPL cases vs. healthy control (75% vs. 54%; O.R = 2.5): p = 0.0005 and (43.3% vs. 31%; O.R = 1.7): p = 0.003. For FOXP3 -2383 C/T (rs 3761548), homozygous genotype TT was significantly higher in RPL cases than the control group against the wild type CC genotype with O. R= 3.49 (p = 0.04). Further, FOXP3 (rs 3761548) genotypes AC+AA were significantly associated between cases and control in terms of women without any known family history (p = 0.0009) and consanguinity (p = 0.0002), respectively.

Conclusion: The study concludes that both the variants of FOXP3 gene, C/A (-3279) and C/T (-2383) are significantly associated with an increased risk for recurrent pregnancy losses.

Introduction: A urethral meatus located in the region of the coronal sulcus accounts for approximately 25% of all hypospadias cases. Numerous surgical methods exist for the correction of this penile anomaly. According to the literature, the complication rate for this treatment ranges from 2% to 25%.

Objective: The aim of this study is to assess the outcomes of coronal hypospadias treatment in boys operated on using a surgical method developed at the Department of Paediatric and Adolescent Surgery, Institute of Mother and Child.

Material and methods: Between 2005 and 2023, 265 boys, aged 14 to 20 months, underwent surgery for coronal hypospadias. The operative technique involves a longitudinal incision of the dorsal part of the urethral meatus, parallel incisions of the glans, and the placement of a mattress suture encompassing the glans and the urethral apex bilaterally in the midline. Subsequently, any ventral penile curvature is corrected, and the frenulum, the normal shape of the prepuce (foreskin), and the penile skin are reconstructed. In all operated boys, a follow-up assessment was conducted at least one-year post-surgery, evaluating the location of the external urethral meatus, penile curvature, the appearance of the prepuce and penile skin, and the presence of any urethrocutaneous fistulas.

Results: Of the 265 operated boys, a correctly positioned external urethral meatus was observed in 254. No patient was found to have penile curvature. The shape of the prepuce and skin was deemed normal in 256 patients. Re-reconstruction of the urethra was required in 8 patients due to meatal retraction and in 3 patients due to a fistula. The postoperative observation period was a minimum of one year.

Conclusions: Based on the results of this study and a comparison with literature data, it can be concluded that the surgical method for treating coronal hypospadias developed at the Department of Surgery, Institute of Mother and Child, yields good functional results and a satisfactory cosmetic appearance of the penis.

Background: The aim of this study was to determine the association of immune response and lipid metabolism genes with the development of pre-eclampsia and related acute cerebral circulatory disorders in Kazakh women.

Materials and methods: Minor allele frequencies of immune response and lipid metabolism genes were determined in 1,800 healthy participants stored in the Miras Biobank of the Scientific Centre of Obstetrics, Gynaecology, and Perinatology Joint Stock Company.

Results: The main results of the study showed that TLR4 (rs4986790), PLEKHA1 (rs2281673), PLEKHG1 (rs9478812), APOE (rs7412), FTO (rs1421085) and LPL (rs285) genes were in genetic equilibrium (p > 0.05), indicating that the sample was representative and there were no significant evolutionary pressures on the studied genes. The frequencies of minor alleles in the studied sample of Kazakhs were: TLR4 - 3.3%, PLEKHA1 - 5.9%, PLEKHG1 - 27.0%, APOE - 7.8%, FTO - 28.3% and LPL - 36.0%.

Conclusion: The obtained data can be used for further genetic studies, as well as for the development of individualised strategies for the prevention and treatment of pre-eclampsia and related complications. The identified genetic markers may help in early detection of women at increased risk of developing these conditions, which will contribute to improving clinical outcomes and reducing maternal and perinatal mortality.

Prader-Willi syndrome is the most common form of genetic obesity in children. The aim of our study was to analyse the progressive course of metabolically associated steatotic liver disease along with the development of pancreatic exocrine function deficiency in Prader-Willi syndrome. The presented clinical case is an example of the early development of metabolic steatotic liver disease in a child with Prader-Willi syndrome, complicated by liver fibrosis and exocrine pancreatic insufficiency. This clinical case is interesting because the patient developed signs of exocrine pancreatic insufficiency at an early age in the form of a decrease in pancreatic elastase in the stool - a consequence of fatty tissue replacement, i.e., the development of pancreatic steatosis. Therefore, the efforts of the treatment protocol are focused on a multidisciplinary approach including the examination of liver and pancreatic function. This allows for control of the progression of the disease, and reduces the risk of obesity-related complications. Despite the rarity of such cases, physicians should be alert in managing these patients.

Background: This was a prospective observational study to compare efficacy and safety of iron sucrose (FeS) and ferric carboxymaltose (FCM) in pregnancy conducted over 18 months at a tertiary hospital.

Methods: Pregnant women between 14 to 36 weeks gestation with moderate to severe iron deficiency anemia were enrolled in the study. The primary outcome was a rise in haemoglobin after 14 and 28 days. Change in red cell indices, serum iron studies, symptomatic improvement, adverse effects, and neonatal outcomes were also compared.

Results: 95 pregnant women with anemia were included in the study. Mean rise in haemoglobin after 14 days was significantly higher in the FeS group than in the FCM group (2.25 ± 0.91 g/dL vs. 1.69 ± 0.98 g/dL, p value = 0.01), but rise in median serum ferritin was significantly more in the FCM group (148.55 vs. 310.6; p < .001). No significant adverse effect was noted in any group.

Conclusion: Injectable iron preparation FeS results in an early rise in haemoglobin, while FCM leads to a higher rise in iron stores as seen by a rise in serum ferritin. As FCM requires fewer hospital visits, it is more convenient to the patient.

Background: The aim of the study was to determine how dietary habits of pregnant women influence foetal immune programming and susceptibility to allergies in young children.

Material and methods: The study followed 172 healthy women aged 20-38 years from early pregnancy to one year postpartum in Warsaw, Poland. Dietary data were collected at 12, 24, and 36 weeks using a validated questionnaire and three-day food diaries. Immunological analysis of newborn cord blood included multiplex cytokine analysis, flow cytometry, PCR, and pyrosequencing of FOXP3, IL-10, and TGFβ1 gene promoter regions.

Results: The results showed an increased intake of polyunsaturated fatty acids, antioxidants and probiotics, accompanied by a decreased intake of allergenic foods. This was accompanied by a balanced immune profile in neonates: increased interferon gamma (IFN-γ) (12.36 pg/ml) and IL-10 (9.21 pg/ml), decreased interleukin 4 (IL-4) (5.82 pg/ml) and immunoglobulin E (IgE) (1.62 IU/ml), indicating a decrease in T helper 2 (Th2)-direction. Higher intake of omega-3 polyunsaturated fatty acids was linked to decreased FOXP3 methylation (r = -0.34; p = 0.008), and probiotics to IL-10 demethylation (r = -0.27; p = 0.03). By 12 months, 21.5% of children showed signs of allergic susceptibility, but those born to women with high omega-3 intake (> 13.5 g/day, OR = 0.42; p = 0.005) and probiotics (OR = 0.55; p = 0.027) had lower rates.

Conclusion: The influence of maternal nutrition during pregnancy on the immune health of the child, in particular on the development of allergic predisposition, has been determined through the mechanisms of gene methylation and changes in the immune profile of newborns.

Background/aims: The proteome, lipidome, glycome, and metabolome of human milk are critical for newborn nutrition and health, and offer personalised, non-pharmacological interventions. This systematic review aims to characterise the omics components of human milk according to maternal health and lactation phases, summarising current knowledge based on high-resolution analytical techniques.

Methods: We conducted a systematic review according to the PRISMA 2020 guidelines. The search was performed between August and September 2022 using Medline, EMBASE, Scopus, LILACS, and Web of Science. Observational studies that analysed human milk at any lactation stage using mass spectrometry or nuclear magnetic resonance to characterise nutrients, biomolecules, or bioactive compounds were included. In total, 55 full-text articles were included in this study.

Results: Glycomics is the most frequently studied omics, followed by proteomics, metabolomics, and lipidomics. Analyses revealed that maternal comorbidities and lactation phases influence the composition of human milk. Fucosylated HMOs showed a protective role against infectious diseases, while elevated levels of protease inhibitors were found in milk from allergic mothers and elevated immunoglobulins were present in milk from mothers with COVID-19. Endocannabinoid profile is associated with improved neonatal sucking ability, while fatty acid-derived metabolites are correlated with infant growth. Distinct omics patterns have also been identified in mothers with diabetes, hypothyroidism, and obesity.

Conclusion: Understanding the omics profile of human milk can guide precise nutrition and improve human milk substitutes. Further research integrating omics data with maternal and infant outcomes will be essential to advance knowledge and support infant health.