Breastfeeding practices in mothers: a qualitative study

Background Despite the WHO and UNICEF recorrunendations, the well-known breastfeeding benefits, and the efforts to promote and support breastfeeding; exclusive breastfeeding by Indonesian mothers remains low and contributes to high infant mortality rates. Objective To elucidate the fac tors that influence mothers' choices for infant feeding Methods This qualitative study was conducted as part of a nationwide survey. The study included 36 in-depth interviews of mothers with infants aged 0-11 months, and health care professionals, including general practitioners, pediatricians, and midwives. This study was performed between 0 cto ber - November 2 0 l 0 in both rural and urban areas of 4 provinces in Indon esia. Results We found that most mothers intended to breastfeed and had positive perceptions of breastfeeding. However, mothers faced many challenges in the practice of exclusive and proper breastfeeding. Additionally, the perceived definition of exclusive breastfeeding varied among the participants, leading  to n on-exclusive breastfeeding attitudes. The most frequent reasons for mothers to introduce additional milk formula or food were the perception of an inadequate milk supply, infant dissatisfaction or fu ssiness after feeding. Different perceptions were also demonstrated in different regions and the varying levels of socioeconomic status. Health care practitioners (HCPs) were the most reliable source for giving adequate information, but unfortunately, they were not easily accessible and provided inconsistent information. Consequently, closely-related family members were the major contributors of information to a mother's choice of infant feeding; because they were easily accessible. Conclusion Factors influencing mothers in their breastfeeding practices are their basic knowledge, demographic and socioeconomic status, as well as the availability of support from closelyrelated family members, friends, and HCPs

Potensi Penggunaan Materi Genetik Fetus pada Sirkulasi Maternal untuk Diagnosis Prenatal Noninvasif Penyakit Genetik

Diagnosis prenatal adalah teknik diagnostik untuk menentukan kondisi fetus yang belum lahir apakah memiliki kelainan genetik ataupun kelainan lainnya. Teknik ini umumnya dilakukan pada penyakit genetik yang tidak dapat diobati di mana terminasi menjadi bahan pertimbangan. Teknik ini juga dilakukan pada kasus yang memerlukan penanganan segera pada saat prenatal dan pada kondisi yang dapat menimbulkan morbiditas atau mortalitas pada ibu. Diagnosis prenatal dapat dilakukan melalui metode invasif dan noninvasif. Metode invasif seperti amniocentesis dan biopsi villi korialis (CVS) memiliki resiko menimbulkan kecacatan bahkan kematian fetus. Pendekatan nonivasif melalui ultrasonografi belum cukup akurat untuk diagnosis penyakit genetik, sehingga masih memerlukan pengambilan sampel fetus untuk menegakkan diagnosis. Pendekatan terbaru pengambilan sampel fetus secara noninvasif dilakukan melalui pengambilan sel fetus, DNA dan mRNA fetus yang terdapat dalam sirkulasi darah maternal. Pada artikel ini dipaparkan mengenai perkembangan riset, kendala, serta potensi aplikasi klinis ketiga metode pengambilan sampel fetus tersebut.Kata kunci: diagnosis prenatal nonivasif, penyakit genetik, cell-free fetal DNA/mRNA, sel fetus.  [Potential Use of Fetal Genetic Material in Maternal Circulation for Prenatal Noninvasive Diagnosis of Genetic Disease].Prenatal diagnostic technique is used to determine whether the unborn fetus is affected with a genetic disorder or other abnormality. This technique is generally carried out for a genetic disease that is not treatable, in which the termination should be considered. This technique is also performed in cases that require immediate action during the prenatal period and in conditions that can lead to morbidity or mortality of the mother. Prenatal diagnosis can be done by invasive and noninvasive methods. Invasive methods such as amniocentesis and chorionic villus sampling (CVS) have a risk of causing disability and even death of the fetus. While noninvasive approach by ultrasound is not sufficiently accurate for the diagnosis of genetic diseases, therefore further  fetal sampling is required. Noninvasive prenatal diagnosis is a new type of genetic testing done through taking fetal cells, fetal DNA and mRNA, which are found in maternal blood circulation. In this review, we present development of research, constraints, and potential clinical applications of these three methods for noninvasive sampling of the fetus.Keywords: noninvasive prenatal diagnosis, genetic disease, cell-free fetal DNA/mRNA, fetal cell

Exclusive breastfeeding rate and factors associated with infant feeding practices in Indonesia

Background Breast milk is the ideal food for infants. According to the 2007 Indonesian National Household Health Survey, only 23% of mothers exclusively breastfeed for six months. Objectives To determine the rate of exclusive breastfeeding in Indonesia, to evaluate factors associated with infant feeding practices, and to compare the nutritional and developmental status between exclusively-breastfed and formula-fed infants. Methods A survey was conducted in hospitals located in 17 provinces in Indonesia. The rate of exclusive breastfeeding was calculated. Many variables were investigated as potential predictors for exclusive breastfeeding using a multivariable logistic regression analysis. Further analysis was performed to compare the nutritional and developmental status between exclusively breastfed and formula-fed infants at the time of survey. Results From 1,804 infant subjects, the overall rate of exclusive breastfeeding was 46.3%, ranging from 10.5% in East Java to 66.9% in Jambi. Predominant breastfeeding, complementary feeding, and formula feeding rates were 14.3%, 8.6%, and 30.7%, respectively. Maternal unemployment was associated with a longer duration of breastfeeding (P=0.000). There were significantly more formula-fed infants who were undernourished compared to exclusively-breastfed infants (14% vs. 8%, P=0.001). There were also significantly more infants in the formula-fed group who had abnormal head circumference compared to those in the exclusively-breastfed group (9% vs. 6%, P=0.031). Child development, as assessed by the Pre-screening Developmental Questionnaire, was similar between the two groups (P=0.996). Conclusion The overall rate of exclusive breastfeeding in Indonesia is 46.3%. Maternal unemployment is associated with longer duration of breastfeeding. Exclusive breastfed infants have significant better growth and head circumference compared to formula fed infants, while the development is similar between the two groups

Functional characterisation of novel NR5A1 variants reveals multiple complex roles in Disorders of Sex Development

Variants in the NR5A1 gene encoding SF1 have been described in a diverse spectrum of disorders of sex development (DSD). Recently, we reported the use of a targeted gene panel for DSD where we identified 15 individuals with a variant in NR5A1, nine of which are novel. Here, we examine the functional effect of these changes in relation to the patient phenotype. All novel variants tested had reduced trans-activational activity, while several had altered protein level, localization, or conformation. In addition, we found evidence of new roles for SF1 protein domains including a region within the ligand binding domain that appears to contribute to SF1 regulation of Mu¨llerian development. There was little correlation between the severity of the phenotype and the nature of the NR5A1 variant. We report two familial cases of NR5A1 deficiency with evidence of variable expressivity; we also report on individuals with oligogenic inheritance. Finally, we found that the nature of the NR5A1 variant does not inform patient outcomes (including pubertal androgenization and malignancy risk). This study adds nine novel pathogenic NR5A1 variants to the pool of diagnostic variants. It highlights a greater need for understanding the complexity of SF1 function and the additional factors that contribute

Cow’s milk allergy in patients with diarrhea

Background Cow’s milk allergy (CMA) might be one of the causes of diarrhea in children. Previous prospective studies found the prevalence of CMA in children aged 0-3 years between 1.1-5.2%, but data about the prevalence of CMA in children with diarrhea was very limited. Objective This study intended to estimate the prevalence of CMA in children with diarrhea. Methods Children aged 0-3 years, who came with diarrhea and consumed milk formula were selected for further evaluation. A diagnostic procedure was developed i.e., elimination diet with par- tially hydrolyzed formula (pHF) for 2 weeks, and then open milk challenge. If diarrhea was not resolved with pHF, the children were given extensively hydrolyzed formula, or soy-based formula. Results Ninety-nine children participated in this study, 87 came with acute diarrhea and 12 with chronic diarrhea. There were 3 children (2 children with acute diarrhea and one with chronic diarrhea) who reacted to the milk challenge. Conclusion The estimated prevalence of CMA in children with diarrhea in our study was 3

Cara Pengasuhan Anak Sebelum Ditegakkan Diagnosis Gangguan Perkembangan Sistem Reproduksi 46,XY

Latar belakang.Gangguan perkembangan sistem reproduksi 46,XY (GPSR 46,XY) bermanifestasi klinis beranekaragam, sehingga dapat dibesarkan sebagai anak laki-laki atau perempuan. Tujuan. Melihat sebaran cara pengasuhan individu dengan GPSR 46,XY dan dihubungkan dengan kemungkinan diagnosisnya. Metode.Penelitian deskriptif retrospektif dengan subyek GPSR yang dirujuk untuk analisis kromosom pada tahun 2009-2010 dan hasil analisis kromosom 46,XY. Hasil.Tujuh puluh pasien GPSR 46,XY dianalisis, dan ditemukan 45 dibesarkan sebagai laki-laki, 22 kasus dibesarkan sebagai perempuan, dan 3 kasus belum ditentukan cara pengasuhan jendernya. Sebagian besar pasien dirujuk pada usia antara >3 bulan-8 tahun, (32/70) pasien, dan 12 pasien dirujuk setelah usia 18 tahun. Alasan pasien dirujuk untuk analisis kromosom terutama adalah genitalia ambigu (44/70 kasus). Kesimpulan.Dengan pendekatan diagnosis yang tepat pada individu GPSR 46,XY orangtua dapat diarahkan untuk mengasuh jender yang sesuai. Untuk itu sangat diperlukan pemeriksaan klinis yang telit

Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature

Abstract Background A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual. Chromosome 9pter aberrations, such as ring chromosome have been reported to cause 46,XY disorders of sex development (DSD), due to involvement of DMRT1 gene located at the 9p24.3 region. Case presentation This study presents a unique case of a 12-year-old female with mos 46,XY, (r)9[31]/45,XY,-9[9] karyotype, presenting with intellectual disability and short stature, mimicking Turner syndrome. Re-karyotyping was performed using standard GTL-banding technique. Further cytogenetic study using standard metaphase fluorescent in situ hybridization (FISH) technique was applied to cultured lymphocytes from peripheral blood, hybridized using green control probe specific to 9q21 loci, and red DMRT1 probe specific to 9p24.3 loci. Cytogenetics and FISH analysis revealed mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] and haploinsufficiency of DMRT1 gene in most cells. CGH array revealed a deletion around 1.25 Mb at 9p24.3 loci [arr 9p24.3(204,193-1,457,665)× 1] and three duplications around 13 Mb [9p24.3p22.3(1,477,660-14,506,754)× 3] near the breakage point that formed the ring chromosome 9. Conclusions The clinical presentation of the subject that mimics Turner syndrome highlights the importance of cytogenetic analysis to detect the possibility of ring chromosome 9. Sex reversal due to haploinsufficiency of DMRT1 gene in ring chromosome 9 structures is exceedingly rare with only a handful of cases ever reported. This finding further highlights the importance of DMRT1 gene in sex determination and differentiation in males. More research is required to pinpoint the exact mechanism that underlies sex reversal caused by DMRT1 haploinsufficiency