Cystic Fibrosis (CF) is a rare condition among Asians and has not been reported in the Philippines as of this time. The inclusion of this disease in the Philippines’ Expanded Newborn Screening Program (ENBS) has provided this Filipino family the opportunity of early detection and appropriate management of this condition that could ensure the survival of the proband and his other surviving siblings. Here we present a case of a 24-month-old male who had a positive Expanded Newborn Screening (ENBS) test for cystic fibrosis and eventually underwent further tests to confirm a homozygous deletion of exons 1 - 2 of the CFTR gene. He subsequently had recurrent pneumonia but is being managed by a team consisting of a pulmonologist, gastroenterologist, and a metabolic dietitian. The proband had an older sibling whose Newborn Screening (NBS) test was normal and who eventually expired from recurrent bouts of pneumonia. This sibling was never managed as a case of cystic fibrosis. Implications on the diagnosis and management of CF in the local setting is also discussed. The importance of an appropriate CF panel customized to the local population should be reiterated and carrier testing should be encouraged to help with proper family counseling for future pregnancies for the family involved.
Cystic Fibrosis ; Neonatal Screening ; Philippines

Lamellar Ichthyosis (LI) is a rare autosomal recessive disorder caused by mutations in genes, primarily TGM1, that affect skin barrier formation. It results in large, hyperpigmented, plate-like scales covering the entire body and persists throughout life. This case illustrates the chronic and debilitating nature of LI, highlights therapeutic approaches that improve quality of life, and emphasizes the importance of genetic testing in managing the condition.

Patient A, a 25-year-old female, and Patient B, a 22-year-old male, are Filipino siblings from non-consanguineous parents with no notable family history. Both were born encased in a collodion membrane that later revealed generalized erythema with large scales and deep fissures. As they aged, symptoms worsened, including reduced sweating, heat intolerance, ectropion, eclabium, cicatricial alopecia, palmoplantar hyperkeratosis, limited finger movement, and blurred vision from corneal scarring. Whole exome sequencing identified a homozygous pathogenic variant in the TGM1 gene (Arg396Cys). Their parents are carriers, giving future offspring a 25% risk of inheriting the condition. Acitretin therapy at 0.2 mg/kg/day, combined with topical keratolytics, led to significant improvement in symptoms and quality of life within four weeks.

Accurate diagnosis of ichthyosiform disorders requires thorough clinical documentation, family history, physical examination, and genetic findings. Effective management of lamellar ichthyosis needs a multidisciplinary approach, focusing on improving quality of life by addressing physical discomfort and social challenges. Genetic testing, especially Whole Exome Sequencing (WES), is crucial for precise diagnosis, genetic counseling, and informed family planning.

A four-year-old female who was born term via spontaneous vaginal delivery with a birth weight of 3.4 kg had an onset of persistent hypoglycaemia at the 6th hour of life. She was diagnosed with congenital hyperinsulinism based on high glucose load, negative ketone and a good response to glucagon. Genetic workup revealed the presence of ATP Binding Cassette Subfamily C Member 8 (ABCC8 genes) mutation which indicated a focal form of congenital hyperinsulinism. She was resistant to the standard dose of oral diazoxide but responded to subcutaneous somatostatin. At the age of 3 years and 6 months, multiple daily injections of somatostatin were replaced with a long-acting monthly somatostatin analogue. With the present treatment, she had better glycaemic control, normal growth and was able to stop tube feeding.
Congenital Hyperinsulinism ; Somatostatin

OBJECTIVE

This study determined the diagnostic accuracies of Growth and Retinopathy of Prematurity (GROP) criteria and a novel modified G-ROP criteria on identifying retinopathy of prematurity (ROP) in infants referred for screening at a tertiary hospital.

This was a single-center, cross-sectional, retrospective study. Medical records of infants referred for ROP screening from January 2012 to December 2021 were reviewed. Infants were labelled as “requiring ROP examination” if they met the 2020 Philippine Academy of Ophthalmology – ROP Working Group (PAO-ROPWG) screening consensus, G-ROP, or modified G-ROP criteria. We compared the accuracy of each criterion in predicting prethreshold ROP, evaluating sensitivity, specificity, and predictive values, as well as percentage of low-risk infants. Statistical analysis used Chi-square tests and one-way ANOVA with post hoc testing.

Of the 873 infants, 162 infants (18.6%) were noted to have ROP of any stage. Type 1 ROP developed in 15.4%, and type 2 ROP in 16.7%. The 2020 PAO-ROPWG consensus had 100% sensitivity (95% CI: 86.3%- 100%) in detecting type 1 and 2 ROP while 323 infants (37%) were low-risk. G-ROP criteria had 100% (95% CI: 86.3%-100%) sensitivity and 79.2% (95% CI: 76.4%-81.9%) specificity in predicting type 1 ROP, and 88.89% (95% CI: 70.84%-97.65%) sensitivity and 79.1% (95% CI: 76.2%-81.8%) specificity in predicting type 2 ROP, while 672 infants (77%) were classified as low-risk. Modified G-ROP criteria had a 100% (95% CI: 86.3%-100%) sensitivity in predicting type 1 and 2 ROP, 54.9% (95% CI: 51.5%-58.3%) and 55.1% (95% CI: 51.7%-58.5%) specificity in predicting type 1 and type 2 ROP, respectively, while 472 infants (54%) were classified as low-risk.

G-ROP and modified G-ROP criteria showed high sensitivity and better specificity compared to the 2020 PAO-ROPWG consensus. Their stricter criteria for gestational age and birth weight likely enhanced specificity. Further research is needed to confirm these findings in a broader population.

OBJECTIVE

To identify the current practices of ophthalmology subspecialists involved in the treatment of retinopathy of prematurity (ROP) in the Philippines.

A survey was conducted among members of the Vitreo-Retina Society of the Philippines (VRSP) and the Philippine Society of Pediatric Ophthalmology and Strabismus (PSPOS) who treat ROP. The electronic questionnaire covered treatment preferences and factors influencing these preferences regarding the use of anti-vascular endothelial growth factor (anti-VEGF), laser indirect ophthalmoscopy (LIO), cryotherapy, and surgical interventions. Questions about referral system and ROP recurrences encountered by the respondents were included.

A total of 73 out of 86 (85.00% response rate) possible respondents were included in the study, majority (80.82%) of whom were retina subspecialists. The initial treatment preference for type 1 ROP was laser indirect ophthalmoscopy (43.84%), while anti-VEGF injection (67.12%) was preferred for aggressive posterior ROP (APROP). Among the available anti-VEGF agents, bevacizumab was the most favored (68.11%). Most ROP consultations (59.79%) occurred through referrals, primarily from pediatricians or neonatologists (91.78%). Subspecialists reported encountering more recurrences with anti-VEGF injections compared to LIO. LIO was the most preferred treatment after failed initial anti-VEGF therapy, with most recurrences occurring in patients older than 50 weeks post-conceptual age.

This study underscored the diverse treatment practices for ROP in the Philippines, influenced by factors such as variable access to equipment or drugs, clinician experience with specific treatments, and ocular factors such as faster regression of neovascularization. LIO was preferred as the initial therapy for Type 1 ROP and for managing recurrences, while anti-VEGF injections were favored for APROP and as an alternative treatment for Type 1 ROP. Given the absence of an established standard for treating recurrent ROP cases, long-term monitoring is necessary to facilitate timely interventions and prevent blindness.

INTRODUCTION

Lamellar ichthyosis (LI) is an inherited rare disorder characterized by generalized scaling presenting at birth and persisting throughout life. It presents at birth with a collodion membrane, later developing into large, brown scales across the skin. LI requires ongoing treatment and monitoring due to physical and psychosocial impacts. This study highlights siblings who showed substantial quality-of-life improvements with oral retinoid therapy.

To present and discuss a detailed case summary, explore management options, and evaluate the treatment outcomes.

We report on a pair of siblings, a 24-year-old male and a 19-year-old female, who were born encased in a collodion membrane, and later presented with large, brown, plate-like scales all over the body. Skin changes were accompanied by intermittent heat intolerance and mild ectropion, which subsequently caused impaired quality of life while growing up. Histopathology results were consistent with lamellar ichthyosis. Both siblings responded well to oral Acitretin at 0.5 mglkglday, showing significant shedding of thick scales and a reduction of ectropion within the first two weeks of therapy.

Lamellar ichthyosis, a severe, lifelong disorder with psychosocial repercussions, requires long-standing, continual therapy. Maximizing treatment options with oral acitretin, addressing the psychosocial implications of the disease and getting patients actively involved in its management results in better treatment outcomes.

Vascular anomalies consist of tumours or malformations made up of abnormal growth or collections of blood vessels that can result in functional or cosmetic problems. While many vascular anomalies are present at birth, some do not appear until later in life, making diagnosis more challenging. Although many vascular anomalies are benign, some are associated with serious complications and may involve multiple organ systems. This article highlights the important features of clinically significant vascular anomalies to help physicians promptly identify and refer these cases to a specialised multidisciplinary team for evaluation and management. The discussion includes the various presenting complaints of vascular anomalies in children, namely, rapidly growing birthmarks, painful lesions, seizures/neurological manifestations, bleeding diathesis, cardiac/airway abnormalities and part of an overgrowth syndrome.
Infant, Newborn ; Child ; Humans ; Vascular Malformations/pathology* ; Vascular Diseases ; Syndrome

Infant, Newborn ; Humans ; Infant, Premature ; Infant, Low Birth Weight ; Blood Transfusion ; Infant, Premature, Diseases

OBJECTIVES: To investigate the impact of the environmental layout of the neonatal intensive care unit (NICU) on clinical outcomes and neurological development in very/extremely preterm infants. METHODS: A total of 304 very/extremely preterm infants admitted to Children's Hospital of Chongqing Medical University between January 2021 and June 2022 within 24 hours after birth were included in this retrospective cohort study. Based on different environmental layouts in the NICU, the infants were divided into two groups: centralized layout group (n=157) and decentralized layout group (n=147). The clinical outcomes and Test of Infant Motor Performance (TIMP) scores at corrected gestational age between 34 to 51⁺⁶ weeks were compared between the two groups. RESULTS: The decentralized layout group had lower incidence rates of bronchopulmonary dysplasia (44.9% vs 62.4%, P<0.05) and intracranial hemorrhage (17.7% vs 28.0%, P<0.05) than the centralized layout group. The cure rate was higher in the decentralized layout group compared to the centralized layout group (68.7% vs 56.7%, P<0.05). The decentralized layout group had higher TIMP scores than the centralized layout group at corrected gestational age between 34 to 51⁺⁶ weeks (P<0.05). CONCLUSIONS The decentralized layout of the NICU exhibits positive effects on the clinical outcomes and early neurological development compared to the centralized layout in very/extremely preterm infants.
Humans ; Infant, Newborn ; Infant, Extremely Premature ; Infant, Premature, Diseases ; Infant, Very Low Birth Weight ; Intensive Care Units, Neonatal ; Retrospective Studies

OBJECTIVES: To study the effect of gut microbiota on hematopoiesis in a neonatal rat model of necrotizing enterocolitis (NEC). METHODS: Neonatal Sprague-Dawley rats were randomly divided into a control group and a model group (NEC group), with 6 rats in each group. Formula milk combined with hypoxia and cold stimulation was used to establish a neonatal rat model of NEC. Hematoxylin and eosin staining was used to observe the pathological changes of intestinal tissue and hematopoiesis-related organs. Routine blood tests were conducted for each group. Immunohistochemistry was used to observe the changes in specific cells in hematopoiesis-related organs. Flow cytometry was used to measure the changes in specific cells in bone marrow. 16S rDNA sequencing was used to observe the composition and abundance of gut microbiota. RESULTS: Compared with the control group, the NEC group had intestinal congestion and necrosis, damage, atrophy, and shedding of intestinal villi, and a significant increase in NEC histological score. Compared with the control group, the NEC group had significantly lower numbers of peripheral blood leukocytes and lymphocytes (P<0.05), nucleated cells in the spleen, thymus, and bone marrow, and small cell aggregates with basophilic nuclei in the liver (P<0.05). The NEC group had significant reductions in CD71⁺ erythroid progenitor cells in the liver, CD45⁺ lymphocytes in the spleen and bone marrow, CD3⁺ T lymphocytes in thymus, and the proportion of CD45⁺CD3^-CD43⁺SSC^hi neutrophils in bone marrow (P<0.05). There was a significant difference in the composition of gut microbiota between the NEC and control groups, and the NEC group had a significant reduction in the abundance of Ligilactobacillus and a significant increase in the abundance of Escherichia-Shigella (P<0.05), which replaced Ligilactobacillus and became the dominant flora. CONCLUSIONS Multi-lineage hematopoietic disorder may be observed in a neonatal rat model of NEC, which may be associated with gut microbiota dysbiosis and abnormal multiplication of the pathogenic bacteria Escherichia-Shigella.
Rats ; Animals ; Enterocolitis, Necrotizing/etiology* ; Gastrointestinal Microbiome ; Rats, Sprague-Dawley ; Animals, Newborn ; Infant, Newborn, Diseases