Journal of mother and child最新文献

Background: Large and giant congenital melanocytic nevi (CMN), benign naevomelanocytic proliferations derived from neural crests, with a projected adult size (PAS) ≥ 20 cm, are connected to a high risk of melanoma and neurocutaneous melanosis. Among several factors, genetic alterations seem to be involved in tumorigenesis. The aim of the present study was to analyse the mutation status of NRAS and BRAF genes in resection specimens from large or giant CMN in a group of Polish patients.

Material and methods: The formalin-fixed, paraffin-embedded resection specimens from 18 patients, fixed in the years of 2006 to 2017, were included in the study. The regions containing the highest load of melanocytes were macrodissected prior to DNA isolation. The NRAS and BRAF mutation status was evaluated using qPCR.

Results: We detected activating mutations in NRAS gene (codons: 12 and 61) in 7 out of the 18 (38.9%) patients. No BRAF mutations were found.

Conclusion: Our study, the first molecular analysis of large/giant CMN in Polish patients, supports the hypothesis that NRAS mutation in codon 61 are frequent, recurrent mutations in large/giant CMN. Moreover, we show, for the first time, that NRAS mutations in codon 12 (p.Gly12Asp) can be also detected in giant CMN. The exact role of these genetic alterations in CMN formation remains to be elucidated.

G6PD deficiency is one of the most commonly inherited enzymopathies with a hallmark of an X-linked pattern. G6PD has more than 300 unique variants with different enzyme activity. The G6PD Mediterranean variant is prevalent in Greece and associated with asymptomatic patients who may experience haemolysis under specific circumstances. G6PD Harilaou is a new variant that was first described in Greece in an eight-year-old boy who suffered chronic haemolysis demanding multiple transfusions. We present a new case of the G6PD Harilaou variant in a Greek male neonate who suffered severe intrauterine haemolysis and passed away 39 hours after birth. To our knowledge, it is the second reported G6PD Harilaou case.

Background: This study was carried out to evaluate the implementation status of Urban Health and Nutrition Day (UHND) and to explore barriers and bottlenecks as perceived by community-level service providers in the selected city of Nagpur, Maharashtra.

Material and methods: This mixed-method study was conducted using a triangulation design. An initial gap assessment was carried out quantitatively using an observation checklist. Focus group discussion among ASHAs and interviews among frontline health workers involved in community mobilisation were carried out to understand the bottlenecks and barriers.

Results: Supplies of drugs and logistics, like paediatric iron and folic acid tablets, calcium tablets, and weighing machines, were inadequate. Services like distribution of conventional contraceptives, testing for malaria, urine albumin/sugar, haemoglobin estimation, screening for diabetes and hypertension, sputum collection, and qualitative iodine test kits are not available in any of the UHND sessions. Major challenges in the implementation of UHND were found to be as follows: unserved areas and left-out urban slum pockets; the distribution paradox of UHND location with an ill-defined geographic boundary; restriction of range of services to antenatal registration and immunisation with gross neglect of other components; suboptimal training of staff; insufficient availability of space, logistics, and health manpower; non-involvement of community members and Urban Local Bodies; and poor monitoring and supervision.

Conclusion: The conduct, use, and list of services offered in UHND are far from the desired goal. For optimal use, reallocation of the UHND sessions, preferably in unserved and underserved slums, need to be carried out after suitable vulnerability assessment. Integration of the Health, Women, and Child Department and Urban Local Bodies is required for convergent planning, monitoring, and supervision.

Background: Adolescence is a sensitive period accompanied by rapid developmental changes that can result in health complaints. The aim of the study was to describe the trend of subjective health complaints (HBSC-SCL) of Polish adolescents compared to their peers from 30 other countries and to rank all countries based on a proposed standardised measure.

Material and methods: Data from the Health Behaviour in School-Aged Children (HBSC) study collected from 2002 to 2018 were used. The overall number of respondents from 30 countries in the combined sample from five quadrennial rounds was 773,356, including 49.2% boys and 50.8% girls. The HBSC-SCL is a non-clinical measure consisting of eight health complaints, usually analysed in two dimensions of psychological and somatic symptoms. Linear regression analysis was applied to assess the significance of trends of the total index and two subindices in the combined sample and individual countries.

Results: A significant increasing trend for the eight-item index appeared in Poland only in 13- and 15-year-olds, while only among 15-year-olds in the combined sample from 30 countries. Standardised country rank varied between -1.85 and 2.48 (worst). The countries that achieved extreme negative values (>=1) are France, Hungary, Italy, and Sweden, and the rank for Italy is considerably higher than for other countries. In Poland, the standardised rank for psychological symptoms exceeded the threshold of +1 in 2018.

Conclusions: The HBSC-SCL index could be useful for monitoring change in adolescent mental health. The proposed method of ranking may allow a broader view of the differences and similarities between countries and help to identify those performing unfavourably against cross-country patterns.

Introduction: Adverse birth outcome (ABO) can lead to higher rates of poor health and infection for newborns, as well as long-term neurological and health problems. Hence, the aim is to identify determinants of ABOs among mothers who gave birth in hospitals in West Shewa zone, Ethiopia.

Methods: A hospital-based, unmatched, case-control study was conducted from March 5to July 29, 2020, among 591mothers (171 cases and 420 controls) who had given birth in hospitals found in West Shewa zone. The questionnaire was collected using census and survey processing system (CS-Pro) version7.1.The data were entered into Epi-data version 3.1 and analyzed by SPSS software version 23. Descriptive statistics, bivariate analysis, and multivariate logistic regression analysis were performed. Finally, P-value < 0.05 was used to declare and include variables with statistically significant in predicting the outcome variable.

Result: On multivariate analysis, urban residence(AOR=0.65, 95%, CI=0.43-0.98),lack of family support during child bearing(AOR =5.24, 95% CI=3.16-8.71),pregnancy type(AOR = 4.02, 95% CI: 2.47-6.52,),short inter-pregnancy interval (AOR = 1.43,95% CI= 1.23-4.48),less than four antenatal care (ANC) visits (AOR =1.80,95%CI: 1.17- 2.78),and having current obstetric complication (AOR=2.07, 95% CI =1.18-3.61) were significantly associated with adverse birth outcomes.

Conclusions: Residence, lack of family support during childbearing, pregnancy type, short inter-pregnancy interval, having current obstetric complications, and number of ANC visits were identified as determinants of adverse birth outcome. Therefore, improving family support, increasing inter-pregnancy interval through family planning counselling and provision, and having the recommended ANC follow-up were recommended.

Background: In recent years an increasing number of multiple pregnancies have been observed, which is a result of advancements made in reproductive technologies for infertility treatments as well as a tendency for women to delay childbearing until later in life. The risk of preterm birth in the case of a twin pregnancy is five to seven times higher than that of a singleton pregnancy, and in the case of triplet pregnancy, the risk is even 10 times higher. The objective of the study was to assess and compare the functional development of children aged between 2 and 2.5 who were prematurely born from singleton, twin and triplet pregnancies.

Material and methods: The study was carried out in a group of 43 children aged between 2 and 2.5 who were born prematurely (between the 32nd and 36th week of pregnancy) in 2017 and 2018. Group I was made up of 10 children born from singleton pregnancies, group II included 12 children born from six twin pregnancies and group III consisted of 21 children born from seven triplet pregnancies. The evaluation of functional development was conducted using the Munich Functional Developmental Diagnostics.

Results: There were no statistically significant differences in functional development between the studied singletons, twins and triplets. In the examined groups of singletons, twins and triplets, the calculated quotient medians for the 50th percentile approximated 1, which means that development was typical and did not differ from the development of the general population. In turn, for the 95th percentile, the median scores usually approximated 0.8, which also indicated that there was no significant delay in development. Had scores been higher than 1, this might have indicated a delay.

Conclusions: On the basis of the study group, no relationship was found between the multiplicity of pregnancies and the functional development of premature babies born between the 32nd and 36th weeks of gestation.

The patient, a boy born in 1991, showed pronounced polyostotic fibrous dysplasia due to McCune-Albright syndrome, as well as Gilbert syndrome and Charcot-Marie-Tooth neuropathy caused by a DNM2 mutation. In addition, the patient, his sister, mother and maternal grandfather had intermittently increased plasma arginine and lysine levels, most probably due to heterozygosity for a novel pathogenic SLC7A2 variant.