OBJECTIVE: To summarize the clinical features and management of two brothers affected with X-linked inhibitor of apoptosis protein (XIAP) deficiency. METHODS: This study retrospectively analyzed the clinical presentations, treatment, and follow-up of two brothers with XIAP deficiency diagnosed at Shanghai Children's Hospital in 2020, and summarized similar cases recorded in databases such as PubMed, Wanfang, Chinese Medical Association Journals, and WIP from January 2006 to November 2024. This study was approved by the Medical Ethics Committee of our hospital (Ethics No.: 2025R128-E01). RESULTS: Patient 1 was the younger brother, who presented at 8 years of age with growth retardation, folliculitis, erythema nodosum, and perineal abscess. Sequencing revealed that he has carried a hemizygous c.566T>C (p.Leu189Pro) variant of the XIAP gene, which was inherited from his mother. He was allergic to infliximab treatment and underwent allogeneic stem cell transplantation (HSCT) in January 2021. During a follow-up of 3 years and 10 months post-transplantation, he showed no gastrointestinal symptoms and had a good outcome. Patient 2 was the elder brother, who presented at 10 years and 6 months of age with growth retardation, rash, and anal fistula. Genetic testing revealed the same variant. He was treated with oral azathioprine but did not have regular follow-ups. At 14-years-and-6-months of age, he had developed severe gastrointestinal infection and hemophagocytic lymphohistiocytosis, which was alleviated after treatment with antibiotics, glucocorticoids, immunoglobulin, and rituximab. He is currently being prepared for HSCT. A total of 13 publications were retrieved, which involved 64 patients from 23 families, with 23 different variants identified. The main clinical manifestations included splenomegaly (34 cases, 53.1%), hemophagocytic lymphohistiocytosis (27 cases, 42.2%), and inflammatory bowel disease or colitis (20 cases, 31.8%). There were significant phenotypic differences among patients from the same family. Thirteen patients (20.3%) underwent HSCT, with a survival rate of 61.5%. CONCLUSION For male children with early onset, poor treatment response, especially those with unexplained splenomegaly and IBD-like symptoms, early genetic testing is recommended. HSCT is a safe and effective treatment for XIAP deficiency. For patients with developmental delay, early onset, and severe IBD phenotype, early transplantation is recommended.
Humans ; Male ; X-Linked Inhibitor of Apoptosis Protein/deficiency* ; Child ; Genetic Diseases, X-Linked/therapy* ; Phenotype ; Siblings ; Retrospective Studies ; Hematopoietic Stem Cell Transplantation

Human ; Observation ; Widowhood

BACKGROUND

Type 2 diabetes is the most common type of diabetes in the Philippines. Diabetic foot complications represent a prevalent and significant chronic concern for individuals with type 2 diabetes. This poses an immediate community health concern, as diabetic complications may threaten an individual's well-being.

This study intends to cross-culturally adapt the Diabetic Foot Knowledge Subscale (DFKS) and Foot Self-Care Behavior Scale (FSCBS) questionnaires into the Filipino language as an assessment tool among Filipinos with diabetes.

The study employed a psychometric research design, where it entailed Phase A and Phase B. Phase A involved the forward translation of the DFKS and FSCBS questionnaires, followed by the synthesis of the translations and backward translation. Subsequently, an expert committee reviewed the translations and concluded the final version. The final translated versions of the questionnaires ensured that it can be understood by an individual who has a Grade 6 level of reading proficiency. Phase B entailed the validity testing with the evaluation of the expert committee, and reliability testing of the said questionnaires with a sample size of 30 participants. A wash-out period of 24 hours was given for the test-retest reliability, followed by data analysis. The validity and reliability of the questionnaires were measured using the item and scale content validity indices and the internal consistency and test-retest reliability, respectively, to ensure their accuracy and appropriateness. The content validity of the questionnaires was evaluated individually by the experts using a Likert scale from 1-4, with 4 being the highest meaning the item was very relevant and succinct. Scores per item were between 3 and 4, which indicate that the translated version of the items were relevant and succinct or were relevant but needed minor revisions.

The validity scores for the translated DFKS and FSCBS questionnaires were obtained using the Scale Content Validity Index (S-CVI) with a score of 0.96 and 0.92, respectively. Moreover, all items in the questionnaires obtained an Item Content Validity Index (I-CVI) of 0.88-1.00. The DFKS also has an acceptable internal consistency with a Cronbach’s alpha of 0.72, while the FSCBS has a good internal consistency with a Cronbach’s alpha of 0.85. The test-retest reliability shows an acceptable Spearman’s correlation at 0.76 for the DFKS and a strong positive Pearson correlation coefficient at 0.73 for the FSCBS.

The validity of the two questionnaires was acceptable and the test-retest reliability showed a strong positive correlation among the items thereby making the cross-cultural adaptation of the questionnaires successful. The Filipino versions of the DFKS and FSCBS questionnaires accurately measure the knowledge and behavior of individuals with type 2 diabetes, respectively.

BACKGROUND AND OBJECTIVE

The Oswestry Disability Index (ODI)–English is a valid and reliable instrument for disability measurement in low back pain (LBP) patients. There is no existing ODI–Ilokano that evaluates LBP patients. This study aimed to cross-culturally adapt the ODI–English into Ilokano.

The ODI–English was cross-culturally adapted into Ilokano through a process that included forward translation, synthesis of the translations, back translation, expert committee review, and testing of the pre-final version.

Forward translation focused on capturing the essence of terms related to pain intensity, personal care, and daily activities, achieving consensus on phrases that accurately mirrored the original English meanings. Subsequent synthesis refined these translations, emphasizing idiomatic and conceptual equivalence over literal interpretations, particularly in nuanced areas like sleep disturbance and social life activities. Backward translation processes aligned Ilokano and English terms, especially for pain intensity and personal care, ensuring consistency across languages. The expert committee review addressed spelling, word choice, and sentence structure, making strategic adjustments for cultural relevance. Pilot testing with participants from Ilocos Norte and Ilocos Sur, Philippines highlighted comprehension challenges with specific terms, leading to adaptations like replacing 'milya' and 'yarda' with metric units and retaining culturally sensitive terms with supplementary English explanations.

This study refined the ODI–English into a culturally adapted Ilokano version, focusing on semantic, idiomatic, and cultural equivalence. Incorporating pilot testing feedback, such as modifying measurement units and addressing sensitive terms, highlighted the thorough adaptation process. The collaborative translation efforts and diverse patient input ensured a culturally resonant ODI version for Ilokano speakers. This adaptation enhances physical therapy practices by improving patient assessments and advocates for adapting patient-reported outcomes to diverse cultures, advancing patient-centered care.

INTRODUCTION: In the early phase of the coronavirus disease 2019 (COVID-19) pandemic, children with COVID-19 in Singapore required hospital isolation. We aimed to explore the psychological experiences of children and their caregivers isolated in a tertiary university hospital due to COVID-19. METHODS: A prospective mixed-methods design was used to evaluate the psychological status of hospitalised family units with one or more children aged <18 years who had severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Patient medical records were reviewed for demographic and clinical information. Parents and children ≥7 years of age underwent a psychologist-administered telephone-based interview. Self-reported, age-appropriate instruments, Short Mood and Feelings Questionnaire, and Screen for Adult/Child Anxiety-Related Disorders, were used to assess anxiety and depression, respectively. Participants were also interviewed qualitatively. RESULTS: Fifteen family units were hospitalised between March 2020 and May 2020. Of these, 13 (73%) family units were recruited. The median age of the children and median hospitalisation duration were 57 months and 21 days, respectively. Median number of COVID-19 polymerase chain reaction swabs performed for each child was eight. All children had asymptomatic to mild SARS-CoV-2 disease. The criteria indicative of anxiety disorder were met by 40% of adults and 80% of children, while the criteria indicative of separation anxiety were met by 60% of parents and 100% of children. One child met the criteria indicative of depression. Uncertainty, separation, prolonged hospitalisation and frequent swabs caused significant reported anxiety. CONCLUSIONS Families, especially children, had heightened anxiety while in hospital isolation. Therefore, home-based recovery from COVID-19 and psychological support for children and their families, with focus on early recognition of anxiety disorders, are recommended. We support review of paediatric isolation policy as the pandemic evolves.
Humans ; COVID-19/epidemiology* ; Male ; Child ; Female ; Singapore/epidemiology* ; Anxiety/etiology* ; Prospective Studies ; Adolescent ; Hospitalization ; SARS-CoV-2 ; Adult ; Child, Preschool ; Pandemics ; Parents/psychology* ; Caregivers/psychology* ; Family/psychology* ; Depression ; Patient Isolation/psychology* ; Surveys and Questionnaires

INTRODUCTION: The survival rate for childhood cancer has increased with advances in medical care. Along with this comes the growing burden of long-term side effects of cancer treatment and cancer survivorship. Childhood cancer survivors are more likely to be sedentary and have a lower quality of life. Physical activity (PA) can promote health and well-being in childhood cancer survivors, but few studies have explored the role of parents of childhood cancer survivors (PCCS) in promoting PA. This qualitative study aims to explore the perceptions of PCCS in Singapore and the role they may have with regard to PA. METHODS: Participants were recruited through a local charity via email, social media and posters. One-hour semi-structured interviews were conducted online with seven parents. With consent, the interviews were recorded, transcribed verbatim and analysed using thematic analysis. RESULTS: Our study discussed thematically parents' accounts on (1) the barriers and enablers of PA and (2) the complications of cancer that potentially affect the levels of PA in childhood cancer survivors. Parents reported that childhood cancer negatively affects the quality of life and participation in PA. The determinants of participation in PA were multifaceted, and socioecological and health belief models were used to demonstrate how these factors were interlinked. CONCLUSION Participation in PA is influenced at an individual, family, community and societal level. The improved understanding facilitated by this research can be used to shape paediatric cancer care practices in Singapore and guide institutional or national policy interventions.
Humans ; Singapore ; Parents/psychology* ; Cancer Survivors/psychology* ; Qualitative Research ; Female ; Male ; Quality of Life ; Exercise ; Child ; Adult ; Neoplasms ; Adolescent ; Perception ; Middle Aged ; Interviews as Topic

BACKGROUND: Parental myopia is an important risk factor for myopia in Chinese children and adolescents. This study aimed to assess the influence of parental myopia and the severity of myopia on offspring and to evaluate whether adopting healthy lifestyles can mitigate the effects of parental myopia on offspring. METHODS: This cross-sectional study analyzed data from children and adolescents aged 6-17 years with complete vision assessments and parental history of myopia from six provinces in China during 2013-2014. Parental demographic information, children's outdoor activity time, sleep time, and sedentary time were collected via questionnaire. Parental myopia was classified as no myopia, paternal myopia, maternal myopia, and both. The offspring were categorized into 10 groups based on parental myopia prescription. Associations of the above factors with myopia in children and adolescents were evaluated by logistic regression analysis. RESULTS: Among 40,864 children and adolescents (50.3% boys and 49.7% girls), 22,537 (55.2%) were diagnosed with myopia. In comparison to offspring devoid of parental myopia, children with one parent affected by myopia exhibited odds ratio (OR) of 1.75 (95% confidence interval [CI]: 1.62-1.88) for myopia, while those with both parents affected showed OR of 2.27 (95% CI: 2.02-2.55) after adjusted for lifestyle factors. The likelihood of myopia in offspring increased with increasing severity of parental myopia, with a 3.08-fold increase in risk observed when both parents presented high myopia. Nonetheless, children adhering to two or more healthy lifestyle factors demonstrated a diminished risk of myopia compared with those with fewer than two lifestyle factors, especially among offspring of non-myopic or mildly myopic parents. CONCLUSIONS Parental myopia has a dose-dependent association with their offspring. Healthy lifestyles may reduce the impact of parental factors on myopia in offspring. The observed associations suggest that although the genetic burden of parental myopia cannot be ignored, healthy lifestyles and nurturing are also very important.
Humans ; Myopia/epidemiology* ; Child ; Male ; Female ; Adolescent ; Cross-Sectional Studies ; China/epidemiology* ; Parents ; Surveys and Questionnaires ; Risk Factors

Case 1 was a 7-year-old girl; Case 2 was her 3-year-old younger brother. Both children developed pink urine shortly after birth and exhibited blistering on photo-exposed areas (face and hands), followed by ulceration, crusting, scarring, and joint contractures leading to impaired mobility. Genetic testing in both patients identified a homozygous variant in the UROS gene, c.776T>C (p.Leu259Pro), confirming autosomal recessive congenital erythropoietic porphyria due to UROS mutations. This case report highlights that congenital erythropoietic porphyria should be considered in infants and young children with unexplained hemolytic anemia, pink urine, and severe photosensitive dermatitis. Early genetic testing is recommended to facilitate timely intervention and improve outcomes.
Humans ; Porphyria, Erythropoietic/genetics* ; Female ; Child ; Child, Preschool ; Male ; Siblings ; Mutation ; Uroporphyrinogen III Synthetase/genetics*

BACKGROUND: Studies have shown that married couples often share similar lifestyles, as well as lifestyle-associated conditions such as diabetes, hypertension, and hyperlipidemia. This study aims to prospectively investigate the association between an individual's development of a non-communicable disease and the subsequent development of the same condition in their spouse. METHODS: This population-based cohort study utilized 12 waves of annual prospective surveys from 2005 onwards in Japan, with a discrete-time design. A total of 9,417 middle-aged couples (18,834 participants; discrete-time observations = 118,876) were included. Each participant whose spouse had developed one of six conditions was propensity score-matched with five controls whose spouses had not been diagnosed with the condition: diabetes [n = 1374 vs n = 6870], hypertension [n = 2657 vs n = 13285], hypercholesterolemia [n = 3321 vs n = 16605], stroke [n = 567 vs n = 2835], coronary heart disease (CHD) [n = 1093 vs n = 5465] or cancer [n = 923 vs n = 4615]. Using conditional logistic regression, we assessed participants' development of the same condition within three years following their spouse's diagnosis. RESULTS: Participants whose spouses had developed diabetes, hypertension, hypercholesterolemia, or CHD were more likely to develop the same condition within three years. The odds ratios (ORs) and 95% confidence intervals (CIs) were: 1.96 (1.53-2.50), 1.20 (1.06-1.36), 1.63 (1.47-1.81) and 1.43 (1.05-1.95), respectively. No significant associations were observed in stroke [1.69 (0.80-3.58)] or cancer [1.08 (0.75-1.54)]. CONCLUSION Spouses of individuals recently diagnosed with certain metabolic conditions are at a higher risk of developing those conditions themselves. These findings may provide valuable guidance for targeting and personalizing chronic disease screening and prevention efforts.
Humans ; Spouses/statistics & numerical data* ; Male ; Female ; Middle Aged ; Aged ; Japan/epidemiology* ; Longitudinal Studies ; Noncommunicable Diseases/epidemiology* ; Prospective Studies ; Neoplasms/epidemiology* ; Diabetes Mellitus/epidemiology* ; Risk Factors ; Aged, 80 and over ; Adult ; Hypertension/epidemiology*

Although salt-related behaviors may influence urinary salt excretion in early childhood, this relationship remains unclear. This study aimed to examine salt-related behaviors using data from a salt check sheet and urinary salt excretion parameters using spot urine samples from 4-year-old children. This cross-sectional study included all 4-year-old children who underwent health checkups in Ohnan Town, Shimane Prefecture. The study sample consisted of 109 children (49 boys). Measures from spot urine samples included estimated salt excretion (g/day) and the sodium-potassium (Na/K) ratio. Salt-related behaviors were assessed using a salt check sheet that was completed by the parents or guardians. The associations between salt-related behaviors and urinary salt excretion parameters were analyzed using a generalized linear model. The median (M) and interquartile range (IQR) for urinary measures in 4-year-old children were as follows: estimated salt excretion (M = 4.4, IQR: 3.3-6.2) and Na/K ratio (M = 2.3, IQR: 1.4-3.3). The low frequency of consumption of high-salt foods ("such as pickles, pickled plums, etc." and "noodles such as udon and ramen") was associated with low salt excretion and low Na/K ratio. However, in the case of "consumption of udon, ramen, or other soups", the Na/K ratio was higher for "About half a bowl" and "Some" than for "An entire bowl." Additionally, for "eating out or having convenience-store-bought bento (lunch plate) for lunch", the Na/K ratio was higher for "No" than for "Almost every day." In conclusion, the frequency of high-sodium food intake was associated with both urinary sodium excretion and the Na/K ratio in 4-year-old children. Longitudinal investigations using the 24-hour urine collection method are needed to confirm these salt-related behaviors.
Humans ; Child, Preschool ; Male ; Cross-Sectional Studies ; Female ; Sodium Chloride, Dietary/urine* ; Parents ; Sodium/urine* ; Japan ; Potassium/urine*