KRAS Mutation in Pediatric Intracranial Germ Cell Tumors

Background: Intracranial germ cell tumors (IGCTs) are rare, highly curable neoplasms. KRAS is a gene in the KIT/RAS signaling pathway, and KRAS mutations have been reported in patients diagnosed with IGCTs. Objectives: To describe the clinicopathologic and molecular features of KRAS mutation and the treatment outcome of children diagnosed with IGCTs. Methods: Patients diagnosed with IGCTs at the Department of Pediatrics, King Chulalongkorn Memorial Hospital from 2007 to 2016 were retrospectively reviewed. DNA was extracted from formalin-fixed, paraffin-embedded tissue and used for molecular study. Mutations in codons 12, 13, and 61 of the KRAS gene were detected using the cobas® KRAS mutation test and pyrosequencing. Results: Eighteen patients were diagnosed with IGCTs (11 males and 7 females): nine with germinomas and nine with non-germinomatous GCTs (NGGCTs). The age range of the patients was 5–14 years (median 10.5 years). Elevated markers were revealed in approximately 25% of the patients. Four patients (two with germinomas and two with NGGCTs) had leptomeningeal involvement. All patients underwent tumor biopsy and received neoadjuvant chemotherapy. Radiotherapy was administered in 16 patients, and craniospinal radiation was administered only in patients with leptomeningeal metastasis. With a median follow-up of 26 months, overall survival was 88.9% in the patients with germinomas and 37% in the patients with NGGCTs. Mutation of the KRAS gene was detected using pyrosequencing in one patient. The mutation located at codon 61, with frequency 38.3% units, nucleotide substitution CAA > CTA, and amino acid substitution, was Q61L. The patient carrying the mutant gene was diagnosed with germinoma with cerebrospinal fluid metastasis and eventually died from treatment-related toxicity. Conclusion: Our study revealed the treatment outcomes of IGCTs in Thai children. The metastatic germinoma patient with KRAS codon 61 mutation had a poor outcome, supporting that Q61L has a clinical correlation with IGCTs.     

Evidence suggesting a genetic contribution to kidney stone in northeastern Thai population

Genetic factor may play a role in the pathogenesis of kidney stone that is found in the northeastern (NE) Thai population. Herein, we report initial evidence suggesting genetic contribution to the disease in this population. We examined 1,034 subjects including 135 patients with kidney stone, 551 family members, and 348 villagers by radiography of kidney–ureter–bladder (KUB) and other methods, and also analyzed stones removed by surgical operations. One hundred and sixteen of 551 family members (21.05%) and 23 of the 348 villagers (6.61%) were affected with kidney stone. The relative risk (λ_R) of the disease among family members was 3.18. Calcium stones (whewellite, dahllite, and weddellite) were observed in about 88% of stones analyzed. Our data indicate familial aggregation of kidney stone in this population supporting that genetic factor should play some role in its pathogenesis. Genetic and genomic studies will be conducted to identify the genes associated with the disease.     

My life as Mae Tid Chua [mothers who contracted HIV disease]: Motherhood and women living with HIV/AIDS in central Thailand

Backgroundliterature suggests that many women living with HIV/AIDS have a desire to become mothers and indeed many of them have done so (Thiangtham and Bennett, 2009, Barnes, 2013, Cogna et al., 2013, Lazarus et al., 2013, Ross, 2013, Yeatman and Trinitapoli, 2013). However, there is still a lack of knowledge about the lived experiences of Thai women living with HIV/AIDS who have become mothers. In this paper, we explored the experiences of pregnancy and birth, motherhood, and infant feeding practices among women living with HIV/AIDS in Thailand.Methodin-depth interviews were conducted with 26 women living with HIV/AIDS in Thailand.Findingsmotherhood was considered desirable by women living with HIV/AIDS who participated in our study. Despite living with a serious illness, becoming a mother permitted them to have a meaningful life. Motherhood prompted the women to stay alive for their children. However, the women lived with constant anxiety about the condition of their infants. Reproductive needs of the women in our study were often questioned by their health care providers. Many were advised by their doctors and nurses not to breast feed their newborn babies as this could transmit HIV to the child. Most women took into account their ability to care for their children in the future and thus did not wish to have many children.Conclusionthis paper contributes to conceptual understanding about the lived experiences of motherhood among women living with HIV/AIDS in Thailand. The findings have implications for midwifery care.     

Identification of a new mutation (Gly420Ser), distal to the active site, that leads to factor XIII deficiency

The molecular defects of the factor XIII A subunit gene were studied in a patient with factor XIII deficiency. Mutation analysis was performed on amplified DNA from each exon of this gene by single-strand conformation polymorphism (SSCP) and DNA sequencing techniques. A substitution of guanine by adenine at nucleotide 1258 in exon 10 of the coagulation factor XIII A subunit gene has been identified in the patient. The mutation results in the replacement of Gly420 by Ser in the core domain of the enzyme. Restriction enzyme analysis of amplified exon 10 DNA confirmed that the patient was homozygous for this mutation. A family study revealed that the mutation was inherited from both parents, who were first cousins. The potential effects of the mutation were predicted by molecular modeling of the amino acid substitution within the coordinates of the crystal structure. The substitution occurred within the core domain of the enzyme at a residue completely conserved among all known members of the transglutaminase family. The model of the mutant protein suggests that although the substitution of Gly420 by Ser causes only minor readjustment of the residues and does not appear to be particularly deleterious in terms of structure, the mutation is, however, likely to decrease the molecule's ability to undergo the conformational change that is thought to be required for full transglutaminase activity. Our data strongly support the previously published information about the functional significance of the residues surrounding, but not forming, the catalytic pocket in the A subunit of factor XIII.     

Thai nurses’ perspectives on the use of complementary and alternative medicine among Thai breast cancer survivors in northern Thailand

Breast cancer survivors are more likely to seek complementary and alternative medicine (CAM) for their health and well‐being than other cancer patients. The purpose of the study was to describe how Thai nurses perceive the use of CAM in Thai breast cancer survivors. An ethno‐nursing research method was used. Fifteen Thai nurses who had experience in taking care of Thai breast cancer survivors who used CAM from a tertiary care referral and resource centre in the lower northern part of Thailand were interviewed. Two major themes emerged from this study: Meaning of care practices in CAM was seen as: (i) an additional beneficial choice for health; and (ii) emotional and psychological healing. Nurses should be concerned about CAM use in Thai breast cancer survivors. Open communication about CAM helps ensure that safe and holistic care is provided. Further research to enhance integration of CAM into health care is needed.     

Lived experience of Thai women and their changing bodies in midlife

This study focused on the lived experience of Thai women and their changing bodies in midlife. The methodology chosen was a phenomenological approach. Eighteen women aged 46–55 years, who lived in the southern Thailand and identified themselves as experiencing physiological changes, participated in the study. Five themes became apparent during the analysis of the women's stories: changing in midlife, sensing normal phenomena, searching for explanation, sense of loss, and self‐managing. This study reveals that Thai women's traditional ties to Buddhism play a major role in their acceptance of midlife as part of the life cycle; an event that is best managed with support from other women. Health professionals should reconsider their understanding of women's midlife experiences in order to provide effective healthcare support to Thai women.     

新型医用敷料汇涵术泰在门诊小手术中的应用

目的比较新型敷料和传统敷料在门诊小手术术中术后的疗效对照。方法选择门诊小手术患者140例,随机分为2组,每组70例。实验组用汇涵术泰喷洒创面,对照组则用传统敷料治疗。观察2组创面愈合时间和换药次数。结果实验组与对照组相比,创面愈合时间明显缩短,换药次数明显减少(P<0.05)。结论新型敷料汇涵术泰对门诊小手术治疗效果显著,可推荐给头面部、四肢躯干浅表肿块切除术以及包皮环切术患者术后带药回家自行换药使用。     

Criteria for high-risk medication use in Thai older patients

Many older patients have multiple diseases that require high-risk drug use, which may cause serious adverse effects. Criteria for the use of these drugs in older people are vital to the prevention of adverse events. This study aimed to develop explicit criteria for determining high-risk medication use in Thai older patients. It was conducted using a Delphi technique with the three-round survey of 16 geriatric medicine (GM) experts. A structured questionnaire with 56, 93, and 95 statements were devised for Rounds 1, 2, and 3, respectively. In each statement, the panelists were requested to confirm a high-risk drug in Round 1, and to rate on a 5-point Likert scale and classify the high-risk medication use in Rounds 2 and 3. The results showed that 77 practice statements (81.1%) that embraced the use of high-risk medications with potential adverse reactions, drug-disease interactions, and drug-drug interactions were agreed by the expert panel. A total of 23 statements (29.9%) were categorized as Groups 1-3 and the rest remained unclassified. Most high-risk medications were utilized in the central nervous system, musculoskeletal system, and cardiovascular system. Further studies are warranted to evaluate the criteria in terms of prescribing and monitoring medication use in older patients.