1.Health-Related Quality of Life in Children and Adolescents with X-Linked Hypophosphatemia (XLH) at Universiti Malaya Medical Centre
Nur Syafiqah Hamizi ; Muhammad Yazid Jalaludin ; Mohd Shafiq Azanan ; Nur Sabrina Rusli
Journal of the ASEAN Federation of Endocrine Societies 2026;41(S1):126-
Introduction:
X-linked hypophosphatemia (XLH) is a rare genetic disorder caused by PHEX mutations, characterized by chronic
hypophosphatemia and renal phosphate wasting, resulting in skeletal, dental, and extra-skeletal complications. To date,
no data from Malaysia are currently available on clinical characteristics or health-related quality of life (HRQoL) in
paediatric patients.
Methodology:
This cross-sectional study evaluated HRQoL among children and adolescents with XLH, using validated PROMIS (PatientReported Outcomes Measurement Information System) instruments, sociodemographic and clinical factors associated
with HRQoL. This includes children and adolescents with confirmed XLH followed up at Universiti Malaya Medical
Centre (UMMC) between November 2024 and March 2025.
Results:
Seventeen patients were analyzed (76.5% female and 23.5% male). The mean age at symptom onset was 2.82 ± 2.42 years,
with a mean age at diagnosis of 5.21 ± 3.29 years. All patients continued to have musculoskeletal complications, including
short stature (76.5%), bowing of legs (76.5%), bone/joint pain (47.1%), muscle pain (47.1%), and dental complications (52.9%).
Serum alkaline phosphatase improved significantly (p = 0.011); persistent hypophosphatemia and ongoing musculoskeletal
manifestations indicated suboptimal disease control. Elevated parathyroid hormone levels and an increase in urine calciumto-creatinine ratio (p = 0.020) lead to secondary hyperparathyroidism and nephrocalcinosis. Adherence to conventional
therapy was poor. Non-adherence was associated with worse pain outcomes (higher pain interference [p = 0.037] and greater
pain intensity [p = 0.025]). PROMIS scores revealed severely impaired mobility (mean T-score 31.31 ± 12.17), increased
fatigue (mean T-score 54.22 ± 7.60), and high pain interference (mean T-score 63.11 ± 9.50). Larger household size was also
strongly associated with higher pain intensity (p = 0.004).
Conclusion
Malaysian children and adolescents with XLH continue to have significantly poor HRQoL, particularly in mobility, fatigue,
and pain. These findings highlight the need for access to targeted therapies, such as burosumab, to improve long-term
outcomes and QOL in XLH patients.
Adolescent
;
Child
;
Familial Hypophosphatemic Rickets
;
Malaysia
;
Quality of Life
2.A qualitative program evaluation study on the perceived impact of health and nutrition programs among beneficiaries of a civil society organization in the Philippines.
Kim Leonard G. Dela Luna ; Alvin Duke R. Sy ; Raycha Lei Concess M. Rama-Sabandal ; Carlos Bernard K. Jacinto ; Rowel C. Malimban ; Bernardyn Eliza G. Sales ; Ryann A. Marollano ; Alberto C. Marin
Acta Medica Philippina 2026;60(8):23-36
BACKGROUND
Undernutrition remains a public health concern in the Philippines despite multitude of government efforts using different nutrition specific and sensitive interventions. Hence, the role civil society organizations play is important in augmenting the health and nutrition programs in the country. Community feedback is important as they are the receiving end of these programs.
OBJECTIVEThe study aimed to know the perceived impact and community insights on the implemented health and nutrition programs in the four selected sites in the Philippines.
METHODSQualitative program evaluation was used, and 50 discussants were recruited through purposive sampling. Semi-structured interview guide for focus group discussion was utilized to determine the perceived impact of the programs among the discussants, and thematic analysis was used to generate codes and themes.
RESULTSThe implemented health and nutrition programs were found to be a source of hope for the family and community and beyond basic necessities. However, there remain barriers in successful acquisition of new information such as a lack of resources and environmental influences. There are also learned opportunities such as continued support from the Civil Society Organization (CSO), and impact capacity building that are not sponsor-driven.
CONCLUSIONOverall, the participants see the health and nutrition programs as helpful for their children as these programs foster proper child rearing. The programs also empower the parents and the community through capacity building. However, there is a need to revisit implementing rules and guidelines to further maximize the benefits and resources of the programs.
Program Evaluation ; Public Health ; Play And Playthings ; Residence Characteristics ; Evaluation Studies As Topic ; Malnutrition ; Nutritional Status
3.Vitamin D in Office Workers: A Review of Musculoskeletal and Immune System Optimization for Enhanced Productivity
Theresia Santi ; Ridwansyah Ridwansyah ; Rima Melati ; Budi Setiabudiawan
Acta Medica Indonesiana 2026;58(1):99-106
Abstract
Vitamin D deficiency is a significant health issue, particularly among office workers. This literature review emphasizes the availability of evidence on vitamin D deficiency and its impacts on musculoskeletal health and immune functions, especially amongst office workers. A literature search of PubMed, Scopus, and Web of Science identified relevant studies on the relationship between vitamin D status and musculoskeletal health and infection risks, highlighting the prevalence of vitamin D deficiency in office workers due to limited sunlight exposure and sedentary lifestyles. The risks of osteoporosis, muscle weakness, and musculoskeletal pain, as well as impaired immune system function, are carefully examined. Potential intervention strategies include implementing work schedules allowing for outdoor breaks, providing access to vitamin D-fortified foods or supplements, and routine screening for vitamin D levels. Addressing the low level of vitamin D in office workers is essential for promoting musculoskeletal health, supporting immune functions, and enhancing workforce productivity. This review underscores the need for further research and the implementation of evidence-based interventions to mitigate the impact of vitamin D deficiency in this population.
Vitamin D deficiency
;
office workers
;
musculoskeletal
;
Immunity
4.Motivating and hindering factors affecting muslim mothers' Infant and Young Child Feeding (IYCF) practices in select municipalities of Maguindanao, BARMM, Philippines
Paul Alteo A. Bagabaldo ; Maria Theresa M. Talavera ; Divine Grace C. Domingo ; Angelina R. Bustos ; Leila S. Africa ; Angelina Dr. Felix ; Anna Teresa O. Orillo ; Nancy A. Tandang ; Warren Tk Lee ; Maria Cecilia F. Pastores
Acta Medica Philippina 2025;59(5):19-29
OBJECTIVES
This study aimed to determine the motivating and hindering factors affecting the Infant and Young Child Feeding (IYCF) practices of Muslim mothers in select municipalities of Maguindanao.
METHODSA pretested questionnaire was administered through face-to-face interviews conducted among 320 randomly selected Muslim mothers with a child aged 6-23 months.
RESULTSResults revealed that prelacteal feeding was practiced by 16.6% of the Muslim mothers, giving mostly plain water. Solid/semi-solid foods were introduced at a mean age of 6.1 ± 1.4 months, with home-cooked lugao (porridge) (55.0%) and commercial baby food (31.3%) as the top foods introduced. The majority of Muslim mothers (82.5%) fed processed foods as complementary food to their children, including instant noodles (85.2%) and canned goods (51.5%). These processed foods were mostly obtained from sari-sari stores, with TV as the top source of information. More than 80% of the Muslim mothers cited food availability, economic reasons, and convenience in food preparation as the top three motivating factors in the practice of complementary feeding (CF). In addition, almost all the Muslim mothers (~97%) mentioned seeing their children grow healthy as the top reason for improving their food preparation practices, followed by positive feedback from their families. Meanwhile, household duties, low milk output, and a new pregnancy make it difficult to continue breastfeeding, while high complementary food costs, a limited budget, and a lack of food make it difficult to provide complementary food. The preparation of food for infants and young children is hindered by an increased workload and a lack of understanding.
CONCLUSIONThe results revealed suboptimal practices in prelacteal feeding and the reliance on processed foods among Muslim mothers, with economic factors, availability, and convenience as motivating factors in complementary feeding practices. Challenges such as household duties, low milk output, and financial constraints hinder breastfeeding and nutritious food provision for infants and young children. The study reinforced the necessity for holistic strategies in IYCF promotion among Muslim mothers.
Breast Feeding ; Malnutrition ; Islam
5.Association of nutritional status using the short nutritional assessment questionnaire (SNAQ) and malnutrition risk using the malnutrition screening tool (MST) with in-hospital mortality and intensive care unit admission among non-critically-ill patients: A single center, prospective cohort study
Karl Homer Nievera ; Mark Henry Joven
Journal of the ASEAN Federation of Endocrine Societies 2025;40(1):80-88
BACKGROUND/OBJECTIVE
Although nutritional assessment tools have been available internationally, local data for their use in foreseeing adverse outcomes among admitted patients are currently unavailable. The primary objective of this study was to determine the association of nutritional status using Short Nutritional Assessment Questionnaire (SNAQ) and malnutrition risk using the MST (Malnutrition Screening Tool) with ICU admission and in-hospital mortality.
METHODOLOGYThis was a prospective-cohort study which included 122 purposively-selected adult participants who were non-intubated, admitted for medical and surgical managements, stayed for at least 24 hours, had no COVID-19 infection, and were not admitted in any critical care unit. The SNAQ and MST questionnaires, which are validated tools and consists of two to three easy-to-answer questions, were used among the participants and their scores were tallied in order to get their nutritional status and malnutrition risk. Primary endpoints measured were length of hospital stay, incidence of mortality, and ICU admission rate. Comorbidities were taken into account using the Charlson Comorbidity Index.
RESULTCategorizing the SNAQ scores showed 33.61% were severely malnourished which was similar when using the MST classification, wherein 34.43% were at risk of malnutrition. None of the participants were admitted to the intensive care unit (ICU). Malnutrition risk and nutritional status was not significantly associated with 30-day in-hospital mortality (p >0.05). On the other hand, results of the Cox proportional hazards showed that SNAQ and MST significantly predicted the hazard of 30-day in-hospital mortality, increasing the hazard of mortality by 2.58 times and 3.67 times, respectively, for every 1-unit increase in SNAQ and MST scores. Similarly, nutritional status using the SNAQ classification indicated the severely malnourished category significantly predicted the hazard of mortality, increasing it by 9.22 times for those who are severely malnourished. Also, malnutrition risk using the MST classification indicated that those who were at risk of malnutrition were 9.80 times at greater hazard of mortality than those who were not at risk of malnutrition.
CONCLUSIONThe MST and SNAQ classification are screening tools for nutritional status (SNAQ) and malnutrition risk (MST) that can be administered at the onset of the patient’s hospital course and have been demonstrated in this study to predict 30-day in-hospital mortality. It is important to note that none of the patients included in this study required intensive care unit admission.
Human ; Malnutrition ; Netherlands ; Eating ; Surveys And Questionnaires ; Mortality
6.Expert consensus on the whole-course nutritional management of colorectal cancer patients with enterostomy (version 2025).
Chinese Journal of Gastrointestinal Surgery 2025;28(6):599-608
Enterostomy is an important means of treating colorectal cancer disease, and the nutritional problems of colorectal cancer patients with enterostomy are getting more and more attention. Malnutrition not only prolongs the hospitalization time of the patients and increases their economic burden, but also increases the incidence of patients' complications and death rate. At present, the nutritional management of colorectal cancer patients with enterostomy in China has not yet formed a consensus. Launched by the Chinese Society for Oncological Nutrition, experts with relevant backgrounds from multiple disciplines in China were invited, based on relevant references, the latest evidence and experts' clinical experience, and after several rounds of expert correspondence and expert demonstration meetings, to write the expert consensus on the whole-course nutritional management of colorectal cancer patients with enterostomy. The expert consensus centers on the teamwork model for the whole-course management of colorectal cancer patients with enterostomy, nutritional tertiary diagnosis, principles of nutritional therapy, perioperative nutritional management, nutritional management of intestinal stoma complications, and post-discharge nutritional management, aiming to provide standardized guidance for the whole-course nutritional management of patients with intestinal stoma.
Humans
;
Colorectal Neoplasms/therapy*
;
Consensus
;
Enterostomy
;
Nutritional Support
;
Malnutrition
;
Nutrition Therapy
7.Risk factors for multiple myeloma and its precursor diseases.
Wanyun MA ; Liang ZHAO ; Wen ZHOU
Journal of Central South University(Medical Sciences) 2025;50(4):560-572
Multiple myeloma (MM) is a common hematologic malignancy that originates from precursor conditions such as monoclonal gammopathy of undetermined significance (MGUS) and smoldering multiple myeloma (SMM). Identifying its risk factors is crucial for early intervention. The etiology of MM is multifactorial, involving race, familial clustering, gender, age, obesity, cytogenetic abnormalities, and environmental exposures. Among these, cytogenetic abnormalities and modifiable factors play pivotal roles in MM pathogenesis and progression. 1) cytogenetic abnormalities. Primary abnormalities [e.g., hyperdiploidy, t(11;14), t(14;16)] emerge at the MGUS stage, while secondary abnormalities [e.g., 1q+, del(17p)] drive disease progression. The accumulation of 1q+ promotes clonal evolution, and del(17p) is associated with significantly reduced survival. 2) modifiable risk factors. Obesity promotes MM via the acetyl-CoA synthetase 2 (ACSS2)-interferon regulatory factor 4 (IRF4) pathway. Vitamin D deficiency weakens immune surveillance. Exposure to herbicides such as Agent Orange and glyphosate increases MGUS incidence. Insufficient UV exposure, by reducing vitamin D synthesis, elevates MM risk. Gut microbiota dysbiosis (enrichment of nitrogen-cycle bacteria and depletion of short-chain fatty acids producers) induces chromosomal instability through the ammonium ion-solute carrier family 12 member 22 (SLC12A2)-NEK2 axis. Therefore, risk-based screening among high-risk populations (e.g., those who are obese, elderly, or chemically exposed), along with early interventions targeting cytogenetic abnormalities [e.g., B cell lymphoma 2 (Bcl-2) inhibitors for t(11;14), ferroptosis inducers for t(4;14)] and modifiable factors (e.g., vitamin D supplementation, gut microbiota modulation), may effectively delay disease progression and improve prognosis.
Humans
;
Multiple Myeloma/epidemiology*
;
Risk Factors
;
Obesity/complications*
;
Chromosome Aberrations
;
Monoclonal Gammopathy of Undetermined Significance/etiology*
;
Gastrointestinal Microbiome
;
Vitamin D Deficiency/complications*
;
Precancerous Conditions/genetics*
8.Observation and analysis of Vitamin D levels in 147 children undergoing adenoidectomy and/or tonsillectomy.
Jun DU ; Qinglong GU ; Yingxia LU ; Guimin HUANG ; Xiaojun ZHAN ; Lin WANG ; Xiaoyan WANG
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(6):515-522
<b>Objective:b>To observe and analyze the levels of vitamin D(VD) and their influencing factors in children undergoing adenoidectomy and/or tonsillectomy. <b>Methods:b>A total of 147 children who received adenoidectomy and/or tonsillectomy in our hospital from November 2018 to March 2019 were selected as the experimental groups, gender and age matched 147 healthy children of the same period were selected as the control group. The differences of VD levels between the two groups were compared, the factors affecting VD levels were investigated, and patients with VD deficiency/insufficiency in the experimental groups were followed up postoperatively. <b>Results:b>The VD levels of the experimental groups were(19.6±6.6) ng/mL and those of the control groups were (22.5±6.5)ng/mL, which was significantly different (P<0.01). The experimental groups were divided into inflammation groups and Sleeping disorder breathing(SDB)groups. The VD levels of the two groups were (19.1±6.7)ng/mL and (21.9±6.4)ng/mL, which was significantly different (P<0.05). Regression analysis showed that VD levels were negatively correlated with age, body mass index (BMI), adenoid hypertrophy, tonsil hypertrophy and Anti-streptolysin O(ASO)levels (P<0.05). VD values were remeasured one year postoperatively in 23 of 72 children in the VD deficiency/deficiency groups, and there was a statistically significant difference between preoperative and postoperative VD values[(14.3±3.9)ng/mL and (17.1±5.5) ng/mL, respectively, P<0.05]. There was a significant difference in postoperative VD value between the inflammation groups and the SDB groups[ (15.6±5.9) ng/mL and (20.5±2.1) ng/mL, respectively, P<0.05]. <b>Conclusion:b>Children who underwent adenoidectomy and/or tonsillectomy had lower VD levels than healthy children.VD levels decreased with increasing age,BMI and ASO values,and associated with the size of adenoid and tonsil. Preoperative VD levels were lower in the inflammation groups, adenoidectomy and/or tonsillectomy improved VD deficiency/insufficiency status, and postoperative elevation of VD levels was more pronounced in the SDB groups.
Humans
;
Tonsillectomy
;
Adenoidectomy
;
Vitamin D/blood*
;
Vitamin D Deficiency
;
Male
;
Female
;
Postoperative Period
;
Child
;
Case-Control Studies
;
Child, Preschool
9.Acupuncture for Wernicke encephalopathy: a case report.
Xiangyu CHEN ; Yuhan MAO ; Jiayong YAO ; Xueping YU ; Wei ZOU
Chinese Acupuncture & Moxibustion 2025;45(2):262-264
This case report introduces Professor ZOU Wei 's experience of treating a patient with Wernicke encephalopathy using the "regulating spirit and promoting yang acupuncture method". The patient was diagnosed as spleen and stomach deficiency with internal liver wind. The treatment principle focused on regulating spirit and awakening the brain, strengthening the spleen, calming wind, and relaxing the tendons. Three groups of acupoints were selected: ①acupoints for awakening the brain by regulating spirit and unblocking meridians (Baihui [GV20], Qianshencong [EX-HN1] and bilateral Taiyang [EX-HN5], Fengchi [GB20]), etc.; ②acupoints for harmonizing the spleen, stomach, qi, and blood (bilateral Tianshu [ST25], Daheng [SP15], Taixi [KI3], etc.); ③acupoints for relaxing and softening the tendons (bilateral Waiguan [TE5], Hegu [LI4], Yanglingquan [GB34], Xuanzhong [GB39]).The needles were retained for 50 min per session, once daily, 7 days a week. After 16-week treatment, the patient was able to walk a few steps slowly with assistance, and other symptoms returned to normal. A two-month follow-up showed the patient's condition remained stable, walking distance further increased, and overall health significantly improved.
Humans
;
Acupuncture Points
;
Acupuncture Therapy
;
Wernicke Encephalopathy/physiopathology*
10.Surgical strategies for osteotomy correction of severe lower limb deformities in hypophosphatemic rickets.
Shaofeng JIAO ; Sihe QIN ; Zhenjun WANG ; Yue GUO ; Hongsheng XU ; Zhijie LIU ; Shilong WANG
Chinese Journal of Reparative and Reconstructive Surgery 2025;39(6):701-707
OBJECTIVE:
To explore the corrective strategies and effectiveness of osteotomy surgery for severe lower limb deformities in hypophosphatemic rickets.
METHODS:
A retrospective analysis was conducted on 29 patients with severe lower limb deformities of hypophosphatemic rickets who underwent surgical treatment between February 2012 and August 2024. There were 9 males and 20 females. The age ranged from 13 to 53 years, with an average of 24.6 years. All patients were deformities of both lower limbs, presenting as 24 cases of O-shaped legs, 2 cases of wind-blown deformities, and 3 cases of X-shaped legs. Based on the full-length films of both lower limbs in the standing position before operation, the osteotomy planes of the femur, tibia, and fibula were designed. Among them, if both the same-sided thigh and leg were deformed, staged surgeries of both lower limbs were selected. If only the thigh or leg were deformed, simultaneous surgeries of both lower limbs were selected. The femur deformity was corrected immediately after osteotomy at the deformed plane; the osteotomy fragment was temporarily controlled with an external fixator, which was removed after perform internal fixation with a steel plate. After fibular osteotomy, the Ilizarov frame or Taylor frame was installed on the tibia and fibula. The threaded rods were removed and then tibial osteotomy was performed on the deformed plane. Patients using the Taylor frame did not undergo deformity correction during operation. The external fixators were adjusted starting 7 days after operation to correct the varus, valgus, and rotational deformities of the lower limb. Patients using the Ilizarov frame corrected the rotational deformity of the tibia during operation. The external fixator was adjusted starting 7 days after operation to correct the varus and valgus deformities of the lower limb. During the treatment period, the patient could walk with partial weight-bearing on the operated limb with crutches. The external fixator was removed after the bone healed. Before operation and at last follow-up, the medial proximal tibial angle (MPTA), lateral distal tibial angle (LDTA), posterior proximal tibial angle (PPTA), anterior distal tibial angle (ADTA), anatomic lateral distal femoral angle (aLDFA), posterior distal femoral angle (PDFA), and mechanical axis deviation (MAD), lower limb rotation, limb length discrepancy (LLD) were measured. The self-made scoring criteria were adopted to evaluate the degree of lower limb deformity of the patients.
RESULTS:
All operations were successfully completed, and no complications such as nerve or vascular injury occurred. The adjustment time of the external fixator of the lower limb after operation was 28-46 days, with an average of 37.4 days. The wearing time of the external fixator ranged from 134 to 398 days, with an average of 181.5 days. Mild pin tract infections occurred in 2 limbs. The osteofascial compartment syndrome occurred in 1 limb after operation. No complications related to orthopedic adjustment of the external fixator occurred in other patients. All patients were followed up 6-56 months, with an average of 28.2 months. At last follow-up, full-length films of both lower limbs in the standing position showed that the coronal mechanical axes of the lower limbs of all patients returned to the normal. At last follow-up, MPTA, LDTA, PPTA, aLDFA, PDFA, MAD, lower limb rotation, LLD, and the score of lower limb deformity significantly improved when compared with those before operation ( P<0.05). There was no significant difference in ADTA between pre- and post-operation ( P>0.05). The degree of lower limb deformity were rated as moderate in 2 cases and poor in 27 cases before operation and as excellent in 7 cases, good in 18 cases, and moderate in 4 cases at last follow-up, with an excellent and good rate of 86.2%.
CONCLUSION
For severe lower limb deformities in hypophosphatemic rickets, immediate correction of deformities with femoral osteotomy and internal plate fixation, as well as gradually correction of deformities with tibiofibular osteotomy and circular external fixation (Ilizarov frame or Taylor frame), have satisfactory therapeutic effects.
Humans
;
Male
;
Osteotomy/instrumentation*
;
Female
;
Adult
;
Retrospective Studies
;
Tibia/abnormalities*
;
Adolescent
;
Femur/abnormalities*
;
Middle Aged
;
Fibula/surgery*
;
Rickets, Hypophosphatemic/complications*
;
Young Adult
;
Treatment Outcome
;
External Fixators
;
Bone Plates
;
Lower Extremity Deformities, Congenital/etiology*


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