We previously reported genome-wide significant linkage to chromosome 3p in a sib-pair family sample from Indonesia. A promising candidate gene within the linked region is the metabotropic glutamate receptor subtype 7 (GRM7), involved in glutamatergic neurotransmission. We genotyped 18 single nucleotide polymorphisms in GRM7 in the sample of 124 Indonesian sib-pair families that had provided the significant linkage finding. Transmission disequilibrium analysis revealed nominally significant transmission distortion of rs17031835 in intron 1 of GRM7 (p=0.004, before correction for multiple testing), along with haplotypes containing rs17031835. No other single marker was found to be significantly associated with schizophrenia in our sample. The results from our study provide support for the idea that glutamatergic neurotransmission and specifically the GRM7 gene might be relevant to the development of schizophrenia. Further studies supporting this finding are warranted.
PIP5K2A variants have been shown to be associated with schizophrenia in Caucasian populations. This study tested 12 PIP5K2A SNPs for association with schizophrenia in a sample of 152 sib-pair families of Indonesian descent. All SNPs had previously been tested for association with schizophrenia in a German family sample by Schwab et al. [2006; Mol Psychiatry] and seven SNPs were nominally associated with schizophrenia in this previous study. The purpose of the study was to examine whether previously implicated PIP5K2A variants influence susceptibility to schizophrenia in populations of non-European descent. No single markers showed nominal association with schizophrenia in this Indonesian family sample, however multi-marker haplotypes including a previously associated exonic SNP marker revealed nominally significant association (P = 0.03). Power to detect association was greater than 80% for all previously implicated variants except for rs11013052, where power was greatly reduced due to the low minor allele frequency of this marker in the Indonesian sample. An explorative study combining the results of this study with those of our previous study indicated that rs11013052 was significantly associated with schizophrenia in the combined sample (P = 0.002). The results of this study suggest that any contribution of previously implicated DNA variants within the PIP5K2A gene to schizophrenia susceptibility in the Indonesian population is only minor.
[Bahasa]: Hipertensi dan diabetes melitus (DM) yaitu penyakit kronis yang membutuhkan perawatan berkelanjutan sebagai upaya untuk mengendalikan tekanan darah dan kadar gula darah. Keduanya memiliki kerentanan mengalami gangguan vaskular sehingga aliran sirkulasi darah tidak lancar, rentan mengalami gangguan ekstremitas kaki yang bermanifestasi menjadi sumbatan pada pembuluh darah, ulkus bahkan amputasi. Situasi pandemi akibat COVID-19, mengharuskan penderita tetap berada dirumah saja terutama pada individu dengan komorbid seperti hipertensi dan DM yang beresiko lebih tinggi tertular Covid-19, jika tidak ada situasi darurat. Tujuan pengabdian kepada masyarakat (PKM) ini adalah untuk memberikan pendidikan dan pelatihan buerger exercise dan perawatan kaki dalam upaya menurunkan resiko gangguan vaskular penderita DM dan hipertensi. Lokasi Kegiatan PKM di Lembaga Kesejahteraan Sosial Hargo Dedali, Surabaya dengan memperhatikan protokol kesehatan yang keta dengan melibatkan 21 peserta dengan rerata usia 59 tahun, 6 peserta (28,6%) mengalami hipertensi, 7 peserta (33,3%) mengalami DM dan 8 orang (38,1%) mengalami keduanya. Metode yang digunakan dalam PKM ini adalah pendekatan Community Based Research (CBR). Evaluasi akhir program PKM dengan membandingkan nilai pre test dan post test terhadap pengetahuan dan kondisi vaskular kaki serta pemeriksaan Ankle Brachial Index (ABI). Hasil pengukuran terhadap tingkat pengetahuan p = 0,000 (p < 0,05), kuesioner Vascular Quality of Life dengan p = 0,001 (p < 0,05) dan ABI dengan p = 0,002 (p < 0,05) sehingga terdapat perbedaan yang bermakna antara sebelum dan sesudah diberikan pendidikan dan pelatihan dalam hal peningkatan pengetahuan dan perbaikan fisik kondisi vaskular. Pemberdayaan penderita DM dan hipertensi melalui pendidikan dan praktik buerger exercise serta edukasi perawatan kaki dapat dijadikan upaya menurunkan resiko gangguan vaskular dan menguragi resiko komplikasi kaki. Kata Kunci: buerger exercise, perawatan kaki, diabetes, hipertensi Abstract: Hypertension and Diabetes Mellitus (DM) are chronic diseases that need continuous treatment to control blood pressure and blood sugar levels. The diseases are susceptible to vascular problems, so that blood circulation is not smooth and made prone to leg disorders that manifest as blockages in blood vessels, ulcers, and even amputations. Covid 19 pandemic requires people with the diseases stay at home if there is no emergency since they are at high risk of being infected. This community service (PKM) aims to provide education and training about Buerger exercises and foot care to reduce the risk of vascular disorders for people with DM and hypertension. The PKM, which took place at the Lembaga Kesejahteraan Sosial Hargo Dedali, Surabaya, with strict health protocols, included 21 participants (around 59 years old); 6 participants have hypertension, 7 participants have DM, and the remaining 8 participants have both diseases. It applied the Community Based Research (CBR) approach. The program's evaluation compared the scores of pre-test and post-test, which assess the participants’ knowledge and the examination of foot vascular condition. The results of evaluation are p = 0.000 (p <0.05) on the knowledge level, p = 0.001 (p <0.05) on the Vascular Quality of Life, and ABI with p = 0.002 (p <0.05). The numbers show a significant difference between before and after the program on the level of knowledge and the physical recovery of the vascular. The empowerment of people with DM and hypertension through the education and practice of Buerger exercises and foot care can be used to reduce the risk of vascular disorders and foot complications. Keywords: buerger exercise, foot care, diabetes, hypertension
Variation in incidence of schizophrenia between populations with different ethnical background may reflect population specific differences in nature and composition of genetic and environmental factors. In order to investigate whether there are population specific susceptibility genes for schizophrenia, we collected in Indonesia families with two or more affected siblings and, as far as available, parents and unaffected siblings, suitable for genetic linkage- and association studies. After checking extensively for incompatibilities with Mendelian inheritance as well as for errors in sampling, we used 124 families from the sample of 152 originally ascertained families for linkage analysis. Genotyping was performed at the NHLBI Mammalian Genotyping Service at Marshfield Research Organisation using the Screening Set 16, which comprises 402 Short Tandem Repeat Polymorphisms (STRPs). The genotypes of 540 individuals including 267 affected with schizophrenia were used for analysis. Multipoint sib-pair linkage analysis was carried out by estimation of--allele sharing derived--maximum likelihood LOD scores (MLS) in 154 sib-pair combinations. We obtained a genome-wide significant MLS of 3.76 on chromosome 3p26.2-25.3. Genome-wide significance was estimated by performing 10,000 simulated genomescans. Additional loci were detected on 1p12, which produced suggestive evidence for linkage (MLS = 2.35), as well as on 5q14.1 (MLS = 1.56), 5q33.3 (MLS = 1.11), and 10q (MLS = 1.17), where linkage had been reported previously. In conclusion, our study detected a region with genome-wide significant linkage, which will serve as starting point for identification of schizophrenia susceptibility genes in the Indonesian population.
Introduction: Living with chronic diseases such as Diabetes mellitus type 2 will make patients experience change or imbalance include biological, psychological, social and spiritual. One of psychology aspects in patients with Diabetes mellitus type 2 is psychological well being (PWB). Emotional response of type 2 DM patients since the early diagnosis to begin undergoing the treatment will be different for each person. Type 2 DM patients need a good transition process to achieve well being state. The transition from a healthy to a diseased condition is needed for the successful self care management of type 2 DM patients. The purpose of this research was to explore the description of PWB in patients of type 2 Diabetes mellitus in six aspects of PWB and PWB facilitate and inhibitor factors in type 2 DM patients. Methods: This research used qualitative design research with case studies approach. The subject of research was seven participants who met the inclusion criteria. Data collection was done by structured interview and observation. Data analysis was done by thematic analysis. Result and Analysis: This study generated 14 themes. The result showed that the process of type 2 DM patients subjected to the process of transition from a healthy condition into ill condition. The transition process started with cyclic lose response which influence type 2 DM patient to self control and make a right decision-making to self care. Self-control would make type 2 DM patients able to adapt and engage with new experiences that become a new habit for type 2 DM patients and will facilitate type 2 DM patients in adapting to the internal and external environment and make type 2 DM patients have a positive hope in their life. Discuss and conclusion: finding in this study would hopefully be beneficial for professional health staff to make assessment about PWB in type 2 DM patients, nurse hopefully can assist patients in transition with the condition of type 2 DM. Need further research about the relation between self acceptance and self control, activation process till engagement to new habit in type 2 DM patients, perceived support to PWB in type 2 DM patient DM.Keywords: psychological well being, type 2 Diabetes mellitus, qualitative
Background: Family’s ability to care for children with avoidant restrictive food intake disorder (ARFID) is a central indicator in preventing the children from worse nutritional disorders. Environmental factor, child factor, caregiving behavioral systems, and beliefs can improve the family’s ability to care for children. The aim of this research was to analyze the effect of environmental factor, child factor, caregiving behavioral systems, and beliefs on the family’s ability to care for children with ARFID.Design and Methods: This cross-sectional research was carried out on 245 families with children suffering from ARFID in Malang Regency, in the working area of the Health Office of Malang Regency. The population of this research was families with children suffering from ARFID within the working area of the Health Office of Malang Regency. The research sample size was computed using the rule of thumb in structural equation modeling (SEM), the sample size used was 245.Results: Results showed that the family’s ability to care for children with ARFID was highly influenced by the caregiver’s belief (t = 21.796; β = 0.713). Caregiver’s belief became a dominant factor in the promotion of the family’s ability to care for children with ARFID. A caregiver’s belief was influenced by his/her behavior.Conclusions: It was concluded that the caregiver’s belief serves as a primary factor in the promotion of the family’s ability to care for children with ARFID. A caregiver’s behavior holds a prominent role in influencing his/her belief in providing care for children suffering from ARFID.
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