The Association of TOX3 Copy Number Variation with Gene Expression and Susceptibility to Nonsyndromic Cleft Lip and/or Palate in a Malay Cohort Nonsyndromic cleft lip and/or palate (NSCL/P) is a common congenital malformation with genetic influences. While Thymocyte selection-associated high mobility group box 3 (TOX3) is involved in other developmental processes, its role in NSCL/P remained unexplored. This study investigated the association between TOX3 copy number, expression, and NSCL/P in 64 Malay NSCL/P cases and 64 normal controls. Samples from patients undergoing cleft repair surgery and eligible volunteers for the control group were quantified via quantitative polymerase chain reactions (qPCR). A higher mean of TOX3 copy number was found in cases (2.195 ± 0.689) compared to controls (1.962 ± 0.558; p < 0.05). Similarly, a higher TOX3 expression was observed in cases (0.014 [IQR 0.024]) compared to controls (0.006 [IQR 0.019]; p < 0.001). Unadjusted analyses showed higher TOX3 copy number (OR = 1.850; p < 0.05) and its expression associated with NSCL/P. However, these associations were nullified after adjusting for sex and age (p > 0.05). Instead, male sex emerged as a significant independent predictor for NSCL/P (adjusted OR = 4.03; p < 0.001). Besides, an inverse, weak correlation was observed between TOX3 copy number and expression in NSCL/P patients (ρ = –0.285; p < 0.05) indicating the potential role of epigenetics in this condition. While male sex strongly contributed to the NSCL/P condition, our results suggest that TOX3 is not an independent genetic risk factor for NSCL/P in this population. These results highlight sex as a primary demographic risk factor and underscore the importance of considering demographic context in genetic association studies.

INTRODUCTION

Oral isothretinoin is the treatment of choice in moderate to severe acne vulgaris. The most common adverse effect is mild mucocutaneous symptoms and the most seious risk is related to teratogenecity. Hyperuricemia and gouty arthritis are rarely associated with isotretinoin therapy.

We report a case of a 26-year-old female patient with no known comorbidities who was started on isotretinoin therapy for acne vulgaris. The patient presented with baseline hyperuricemia with no joint pains or swelling. Two and a half weeks later after initiation of isotretinoin therapy, the patient developed pain and swelling on the left wrist, hence was started on urate-lowering medications and maintained on isotretinoin tharapy. The patient had no recurrence of joint pains and remains symptom-free for six months later.

The treatment of obesity and its comorbidities ranges from clinical management involving lifestyle changes and medications to bariat­ric and metabolic surgery. Various endoscopic bariatric and metabolic therapies recently emerged to address an important therapeutic gap by offering a less invasive alternative to surgery that is more effective than conservative therapies. This article compre­hensively reviews the technical aspects, mechanism of action, outcomes, and future perspectives of one of the most promising endoscopic bariatric and metabolic therapies, named duodenojejunal bypass liner. The duodenojejunal bypass liner mimics the mechanism of Roux-en-Y gastric bypass by preventing food contact with the duodenum and proximal jejunum, thereby initiating a series of hormonal changes that lead to delayed gastric emptying and malabsorptive effects. These physiological changes result in significant weight loss and improved metabolic control, leading to better glycemic levels, preventing dyslipidemia and non-alcoholic fatty liver disease, and mitigating cardiovascular risk. However, concern ex­ists regarding the safety profile of this device due to the reported high rates of severe adverse events, particularly liver abscesses. Ongo­ing technical changes aiming to reduce adverse events are being evaluated in clinical trials and may provide more reliable data to sup­port its routine use in clinical practice.

Objectives: This study aimed to compare the severity of COVID-19, inflammatory parameters and clinical outcomes among patients with normal and subnormal levels of Vitamin D. Methodology: This is a retrospective cohort study of 135 patients admitted in a tertiary hospital for COVID-19. Patients were grouped according to their Vitamin D level. Primary outcome measure was the composite of all-cause mortality and morbidity. Other outcome measures determined were the comparison among the groups on the severity of COVID-19 infection, changes in inflammatory parameters, length of hospital stay and duration of respiratory support. Results: There was a significant trend of higher ICU admission (p=0.024), mortality (p=0.006) and poor clinical outcome (p=0.009) among the Vitamin D deficient group. No significant difference was found for most of the inflammatory parameters, duration of hospital stay and respiratory support. Overall, patients with deficient, but not insufficient Vitamin D level had 6 times higher odds of composite poor outcome than those with normal Vitamin D (crude OR=5.18, p=0.003; adjusted OR=6.3, p=0.043). Conclusion The inverse relationship between Vitamin D level and poor composite outcome observed in our study suggests that low Vitamin D may be a risk factor for poor prognosis among patients admitted for COVID-19.
Vitamin D ; Vitamin D Deficiency ; COVID-19

Background: Gastrointestinal stromal tumors (GIST) is defined as specific, typically kit (CD117)-positive and CKIT or platelet-derived growth factor receptor alpha (PDGFRA) mutation-driven mesenchymal tumors that can occur anywhere in the GI tract. GIST diagnosis relies heavily on immunohistomorphology. However, with the advent of molecular testing, the classification, diagnosis and targeted-therapy for gastrointestinal mesenchymal tumors have been greatly improved. In the Philippines, molecular testing is not yet readily available as in other countries. The local molecular profile of gastrointestinal stromal tumors is a point of investigation as treatment may be more tailored to the patients’ needs. Objective: This study aims to determine the prevalence of CKIT and PDGFRA mutations among formalin-fixed and paraffin embedded gastrointestinal stromal tumors and other gastrointestinal mesenchymal tumors in St. Luke’s Medical Center – Quezon City. Methods: A retrospective cross-sectional study of formalin fixed and paraffin embedded tumor samples diagnosed as Gastrointestinal Stromal Tumor from January 1, 2009 to December 31, 2017 will be analyzed for KIT and PDGFRA mutations. Result: The epidemiology of GIST remains constant in that mean age group is the 5th to 6th decade, with equal gender distribution, and stomach followed by small bowel are the most common sites. Mutational analysis of the GISTs showed predominantly KIT Exon 11 (47.83%) followed by CKIT Exon 9 (13.04%) and PDGFRA Exon 18 (10.87%). For KIT Exon 11, deletion is the most common mutations followed by point mutations. No mutation is detected in 47.83% of GISTs. Conclusion Mutational analysis for CKIT-PDGFRA is warranted among GIST patients, as it may significantly influence treatment protocol in our patients.
Gastrointestinal Stromal Tumors

Background: This study aimed to evaluate the influence of maternal diabetes in the risk of neurodevelopmental disorders in offspring in the prenatal and postnatal periods. Methods: This cohort study included singleton gestational diabetes mellitus (GDM) pregnancies >22 weeks’ gestation with live newborns between 1991 and 2008. The control group was randomly selected and matched (1:2) for maternal age, weeks of gestation and birth year. Cox regression models estimated the effect of GDM on the risk of attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and maternal type 2 diabetes mellitus (T2DM). Moreover, interaction between maternal T2DM and GDM-ADHD relationship was evaluated. Results: Children (n=3,123) were included (1,073 GDM; 2,050 control group). The median follow-up was 18.2 years (interquartile range, 14.2 to 22.3) (n=323 with ADHD, n=36 with ASD, and n=275 from women who developed T2DM). GDM exposure was associated with ADHD (hazard ratio [HR]crude, 1.67; 95% confidence interval [CI], 1.33 to 2.07) (HRadjusted, 1.64; 95% CI, 1.31 to 2.05). This association remained significant regardless of the treatment (diet or insulin) and diagnosis after 26 weeks of gestation. Children of mothers who developed T2DM presented higher rates of ADHD (14.2 vs. 10%, P=0.029). However, no interaction was found when T2DM was included in the GDM and ADHD models (P>0.05). GDM was not associated with an increased risk of ASD (HRadjusted, 1.46; 95% CI, 0.74 to 2.84). Conclusion Prenatal exposure to GDM increases the risk of ADHD in offspring, regardless of GDM treatment complexity. However, postnatal exposure to maternal T2DM was not related to the development of ADHD.

Dysgerminoma comprises 3%–5% among ovarian malignancies, mostly seen in adolescent and early adult women. The recurrence rate is approximately 10%–20%, occurring within 2 years of diagnosis, and has been reported that more than 75% occur in the 1st year. A 19‑year‑old nulligravid initially presented with severe abdominal pain, who underwent emergency exploratory laparotomy and left salpingo‑oophorectomy, whose histopathologic result revealed dysgerminoma, Stage IC2. Recurrence of dysgerminoma was noted on the contralateral ovary 10 months after for which she had undergone another surgery for wedge resection of the right ovarian mass and complete surgical staging. She received adjuvant chemotherapy without complications. Despite two consecutive surgeries and chemotherapy, she had conceived naturally and her pregnancy was carried to term with no complications and delivered to a live baby girl by normal spontaneous delivery. This case is a proof of how fertility‑sparing surgeries and chemotherapy in dysgerminoma can successfully preserve reproductive functions for future conceptions.
Chemotherapy, Adjuvant ; Dysgerminoma ; Pregnancy ; Recurrence

OBJECTIVES: This study aims to validate the Distress Thermometer Filipino version, (DT-F) in head and neck cancer patients and identify the cut off score of DT-F for psychosocial distress at which to make referrals for clinical intervention. METHODOLOGY: After obtaining permission from the National Comprehensive Cancer Network (NCCN), translation and back-translation of the Distress Thermometer (DT) were done. One hundred ninety- two patients who fit the inclusion criteria were included in the study. They were from the outpatient clinic and ward of both the Cancer Institute and Otorhinolaryngology Department and each participant accomplished a socio-demographic form, the DT-F and Problem List, The Hospital Anxiety and Depression Scale-Pilipino (HADS P) and had a brief psychiatric interview. RESULTS: Receiver Operating Characteristic (ROC) curve analyses generated area under the curve (AUC) of 0.7506, suggesting good discrimination using the HADS P cut off score of 11. The optimal cut off score in DT-F is 4, with a sensitivity of 77% and specificity of 58%. Hence, using this cut off score, head and neck cancer patients who score 4 and above in the DT-F were identified to experience clinically relevant psychosocial distress than those who score below the cut off. CONCLUSION The Filipino version of DT is a valid tool for screening psychosocial distress in head and neck cancer patients. Using a cut off score of 4 is recommended for appropriate and timely referral for further evaluation.
Head and Neck Neoplasms

OBJECTIVES: This study purposed to measure the effectiveness of the Psychosocial Rehabilitation (PSR) Program, which was a combination of occupational therapy and psychoeducation in managing patients diagnosed with schizophrenia who were recovering in a mental health facility as well as identify gaps and problems in its implementation. METHODOLOGY: An experimental design was used followed by a qualitative study to further analyze the impacts of the psychosocial rehabilitation program. RESULTS: Pre-and-post-test measures showed that clinical global improvement, psychiatric symptoms and socio-occupational functioning of the patients improved while quality of life and enjoyment did not change. Performance and satisfaction of experimental group participants related to the occupational therapy program also increased. Insights and meaningful realizations were observed in those who had undergone the psychosocial rehabilitation program (PSR). CONCLUSION Implications for treatment and recommendations for the psychosocial program were made to address challenges in implementing the psychosocial rehabilitation program.
Occupational Therapy ;

Background: Exclusive breastfeeding up to 6 months of age is the global recommendation of the World Health Organization because of its established benefits. Previous studies show that exclusive breastfeeding can protect infants during infancy but effects of breastfeeding beyond infancy are inconclusive. This study aims to identify if exclusive breastfeeding up to 6 months of age is protective for pneumonia up to 5 years of age. Methods: Systematic literature search was conducted on the following electronic databases: Pubmed, MEDLINE, EMBASE, CINAHL, SciHub, Herdin, Google Scholar, the Cochrane Central Register of Controlled Trials and the Cochrane Database of Systematic Reviews to identify all relevant studies assessing the effect of exclusive breastfeeding on development of pneumonia in children from birth to 5 years of age. Fixed effects meta-analysis was performed to generate pooled effect estimates (odds ratio) on the probability of developing pneumonia up to 5 years of age in exclusively breastfed compared to non-exclusively breastfed infants. Results: Five studies were included in the analysis. Exclusive breastfeeding from birth to 6 months has a protective effect against pneumonia in children up to 5 years of age. The probability of developing pneumonia in children until 5 years of age was significantly lower in those who were exclusively breastfed compared to those who were not exclusively breastfed (OR=0.86; 95%CI=0.77-0.95, pvalue=0.003) by 23%. Systematic review showed benefit of exclusive breastfeeding and continued breastfeeding for longer protection against developing pneumonia. Conclusion Exclusive breastfeeding from birth to 6 months is associated with statistically significant reduction in the incidence of pneumonia up to 5 years of age. Results highlighted the importance of exclusive breastfeeding up to 6 months of age as an intervention in reducing pneumonia morbidity up to 5 years of age, thereby supporting the global recommendation of breastfeeding.
Breast Feeding ; Pneumonia