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.

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.

Human ; Observation ; Widowhood

Becoming a parent is a significant life transition accompanied by various experiences and emotions that may be both fulfilling and rewarding, as well as challenging and stressful for both the mother and father. Mercer's theory of becoming a mother provides a framework for mothers' adaptation and role attainment throughout the perinatal period. However, a theoretical gap exists surrounding fathers' adaptability and role attainment, as fathers are frequently forgotten, and their experiences are overlooked. Although becoming a father can be a rewarding or satisfying experience that results in positive changes in men's lives, some fathers experience concerns and contradictions as a result of a shift in their roles, responsibilities, and social expectations, which result in maladaptation and mental health challenges. Given the significance of fathers in the family, community, and society, this concept analysis aimed to bridge the gap by proposing a theory that will guide fathers in successfully adapting to and reaching a solid role identity. The concept analysis methodology from Walker and Avant (2011) was utilized to define the concept of paternal adaptation and role attainment, attributes, antecedents, consequences, cases, and empirical referents. This paper concludes that perinatal fathers' adaptability and role attainment improve psycho-emotional, cognitive, relational, and behavioral outcomes, improving paternal-maternal-infant quality of life and developmental products when influenced by positive personal resources, adequate family, friends support, and community resources. Given the implications of paternal maladaptation on the family, a theoretical framework for fathers is crucial. Hence, the theory of paternal adaptation and role attainment is proposed.
Pregnancy ; Mothers ; Fathers ; Motivation

Humans ; Child ; Cross-Sectional Studies ; Singapore ; Neoplasms/psychology* ; Adaptation, Psychological ; Parents/psychology*

Humans ; Child ; SARS-CoV-2 ; Viral Load ; COVID-19 ; Parents

BACKGROUND: Although the need for consolidation chemotherapy after successful induction therapy is well established in patients with acute myeloid leukemia (AML) in first complete remission (CR1), the value of consolidation chemotherapy before allogeneic hematopoietic stem cell transplantation remains controversial. METHODS: We retrospectively compared the effect of the number of pre-transplant consolidation chemotherapies on outcomes of human leukocyte antigen-matched sibling stem cell transplantation (MSDT) for patients with AML in CR1 in multicenters across China. In our study, we analyzed data of 373 AML patients in CR1 from three centers across China. RESULTS: With a median follow-up of 969 days, patients with ≥ 3 courses of consolidation chemotherapy had higher probabilities of leukemia-free survival (LFS) (85.6% vs . 67.0%, P < 0.001) and overall survival (89.2% vs . 78.5%, P  = 0.007), and better cumulative incidences of relapse (10.5% vs . 19.6%, P  = 0.020) and non-relapse mortality (4.2% vs . 14.9%, P  = 0.001) than those with ≤ 2 courses of consolidation chemotherapy. Pre-transplantation minimal residual disease-negative patients with AML in CR1 who received MSDT with ≥ 3 courses of consolidation chemotherapy had a higher probability of LFS (85.9% vs . 67.7%, P  = 0.003) and a lower cumulative incidence of relapse (9.6% vs . 23.3%, P  = 0.013) than those with ≤ 2 courses. CONCLUSION Our results indicate that patients with AML in CR1 who received MSDT might benefit from pre-transplant consolidation chemotherapy.
Humans ; Retrospective Studies ; Consolidation Chemotherapy/methods* ; Siblings ; Hematopoietic Stem Cell Transplantation/methods* ; Leukemia, Myeloid, Acute/etiology* ; HLA Antigens ; Allografts

OBJECTIVE: To explore the genetic basis for a Chinese pedigree affected with Branchio-Oto syndrome (BOS). METHODS: A pedigree with BOS which had presented at the Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University in May 2021 was selected as the study subject. Clinical data of the pedigree was collected. Peripheral blood samples of the proband and her parents were collected. Whole exome sequencing (WES) was carried out for the proband. Multiplex ligation-dependent probe amplification (MLPA) was used to verify the result of WES, short tandem repeat (STR) analysis was used to verify the relationship between the proband and her parents, and the pathogenicity of the candidate variant was analyzed. RESULTS: The proband, a 6-year-old girl, had manifested severe congenital deafness, along with inner ear malformation and bilateral branchial fistulae. WES revealed that she has harbored a heterozygous deletion of 2 466 kb at chromosome 8q13.3, which encompassed the EYA1 gene. MLPA confirmed that all of the 18 exons of the EYA1 gene were lost, and neither of her parents has carried the same deletion variant. STR analysis supported that both of her parents are biological parents. Based on the guidelines from the American College of Medical Genetics and Genomics, the deletion was classified as pathogenic (PVS1+PS2+PM2_Supporting+PP4). CONCLUSION The heterozygous deletion of EYA1 gene probably underlay the pathogenicity of BOS in the proband, which has provided a basis for the clinical diagnosis.
Humans ; Female ; Pregnancy ; Child ; Pedigree ; Family ; Parents ; Chromosomes, Human, Pair 3 ; Exons ; Nuclear Proteins/genetics* ; Protein Tyrosine Phosphatases ; Intracellular Signaling Peptides and Proteins/genetics*

OBJECTIVE: To explore the diagnosis, treatment and genetic analysis of an infant with Schaaf-Yang syndrome (SYS). METHODS: An infant suspected for SYS at the Hunan Provincial Children's Hospital on June 10, 2022 was subjected to trio-whole exome sequencing, and Sanger sequencing was used to verify the candidate variant. Structure of the wild-type and mutant proteins was constructed to analyze the potential hazard. RESULTS: The infant was found to harbor a heterozygous frameshifting variant of c.1908delG (p.R637Gfs*65) of the MAGEL2 gene, which was found in neither of his parents. The variant has not been recorded by the public databases, and no relevant literature was retrieved. As the result of the variant, the MAGEL2 protein only retained part of its proline domain, which may lead to destruction and/or down-regulation of its function. CONCLUSION The c.1908delG (p.R637Gfs*65) variant of the MAGEL2 gene probably underlay the pathogenesis in this child. Combined with his clinical characteristics, the child was diagnosed with SYS. Above finding has also enriched the mutational spectrum of the MAGEL2 gene.
Humans ; Infant ; Down-Regulation ; Heterozygote ; Mutation ; Parents ; Proteins

OBJECTIVE: To analyze variants of SMN gene in a Chinese pedigree affected with Spinal muscular atrophy (SMA). METHODS: A Chinese pedigree diagnosed at the Nanchang First Hospital in January 2020 was selected as the study subject. Peripheral blood samples were collected for the extraction of DNA. All exons of the SMN gene were detected by multiple ligation-dependent probe amplification (MLPA). Potential variants of the SMN gene were also detected by Whole exome sequencing (WES), and the result was verified by Sanger sequencing. cDNA extracted from fresh blood sample was used as a template to verify the location of variant on the SMN genes. RESULTS: The proband was found to harbor a heterozygous deletion of the SMN1 Exon7+Exon8, and a heterozygous c.81G>A variant. The SMN1 Exon7+Exon8 deletion was inherited from her father and grandmother, whilst the c.81G>A variant was inherited from her mother and maternal grandfather. Her aunt was also a carrier of the heterozygous deletion, while her paternal aunt, her husband, and their daughter were not. cDNA amplification and Sanger sequencing confirmed that the c.81G>A variant was located in the SMN1 gene. CONCLUSION MLPA combined with NGS and Sanger sequencing can identify compound heterozygous variants of the SMN gene in the SMA patients.
Female ; Humans ; Male ; DNA, Complementary ; East Asian People ; Fathers ; Mothers ; Muscular Atrophy, Spinal/diagnosis* ; Pedigree ; Survival of Motor Neuron 1 Protein/genetics*