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.

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.

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

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.

Humans ; Consensus ; Congenital Hyperinsulinism

OBJECTIVES: To investigate the difference in intestinal microbiota between preterm infants with neurodevelopmental impairment (NDI) and those without NDI. METHODS: In this prospective cohort study, the preterm infants who were admitted to the neonatal intensive care unit of Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from September 1, 2019 to September 30, 2021 were enrolled as subjects. According to the assessment results of Gesell Developmental Scale at the corrected gestational age of 1.5-2 years, they were divided into two groups: normal (n=115) and NDI (n=100). Fecal samples were collected one day before discharge, one day before introducing solid food, and at the corrected gestational age of 1 year. High-throughput sequencing was used to compare the composition of intestinal microbiota between groups. RESULTS: Compared with the normal group, the NDI group had a significantly higher Shannon diversity index at the corrected gestational age of 1 year (P<0.05). The principal coordinate analysis showed a significant difference in the composition of intestinal microbiota between the two groups one day before introducing solid food and at the corrected gestational age of 1 year (P<0.05). Compared with the normal group, the NDI group had a significantly higher abundance of Bifidobacterium in the intestine at all three time points, a significantly higher abundance of Enterococcus one day before introducing solid food and at the corrected gestational age of 1 year, and a significantly lower abundance of Akkermansia one day before introducing solid food (P<0.05). CONCLUSIONS There are significant differences in the composition of intestinal microbiota between preterm infants with NDI and those without NDI. This study enriches the data on the characteristics of intestinal microbiota in preterm infants with NDI and provides reference for the microbiota therapy and intervention for NDI in preterm infants.
Infant ; Child ; Infant, Newborn ; Humans ; Child, Preschool ; Infant, Premature ; Prospective Studies ; Gastrointestinal Microbiome ; China ; Infant, Premature, Diseases ; Gestational Age

Necrotizing enterocolitis (NEC), with the main manifestations of bloody stool, abdominal distension, and vomiting, is one of the leading causes of death in neonates, and early identification and diagnosis are crucial for the prognosis of NEC. The emergence and development of machine learning has provided the potential for early, rapid, and accurate identification of this disease. This article summarizes the algorithms of machine learning recently used in NEC, analyzes the high-risk predictive factors revealed by these algorithms, evaluates the ability and characteristics of machine learning in the etiology, definition, and diagnosis of NEC, and discusses the challenges and prospects for the future application of machine learning in NEC.
Infant, Newborn ; Humans ; Enterocolitis, Necrotizing/therapy* ; Infant, Newborn, Diseases ; Prognosis ; Gastrointestinal Hemorrhage/diagnosis* ; Machine Learning

Objective: To evaluate the value of nasal nitric oxide (nNO) measurement as a diagnostic tool for Chinese patients with primary ciliary dyskinesia (PCD). Methods: This study is a retrospective study. The patients were recruited from those who were admitted to the respiratory Department of Respiratory Medicine, Children's Hospital of Fudan University from March 2018 to September 2022. Children with PCD were included as the PCD group, and children with situs inversus or ambiguus, cystic fibrosis (CF), bronchiectasis, chronic suppurative lung disease and asthma were included as the PCD symptom-similar group. Children who visited the Department of Child health Care and urology in the same hospital from December 2022 to January 2023 were selected as nNO normal control group. nNO was measured during plateau exhalation against resistance in three groups. Mann-Whitney U test was used to analyze the nNO data. The receiver operating characteristic of nNO value for the diagnosis of PCD was plotted and, the area under the curve and Youden index was calculated to find the best cut-off value. Results: nNO was measured in 40 patients with PCD group, 75 PCD symptom-similar group (including 23 cases of situs inversus or ambiguus, 8 cases of CF, 26 cases of bronchiectasis or chronic suppurative lung disease, 18 cases of asthma), and 55 nNO normal controls group. The age of the three groups was respectively 9.7 (6.7,13.4), 9.3 (7.0,13.0) and 9.9 (7.3,13.0) years old. nNO values were significantly lower in children with PCD than in PCD symptom-similar group and nNO normal controls (12 (9,19) vs. 182 (121,222), 209 (165,261) nl/min, U=143.00, 2.00, both P<0.001). In the PCD symptom-similar group, situs inversus or ambiguus, CF, bronchiectasis or chronic suppurative lung disease and asthma were significantly higher than children with PCD (185 (123,218), 97 (52, 132), 154 (31, 202), 266 (202,414) vs. 12 (9,19) nl/min,U=1.00, 9.00, 133.00, 0, all P<0.001). A cut-off value of 84 nl/min could provide the best sensitivity (0.98) and specificity (0.92) with an area under the curve of 0.97 (95%CI 0.95-1.00, P<0.001). Conclusions: nNO value can draw a distinction between patients with PCD and others. A cut-off value of 84 nl/min is recommended for children with PCD.
Humans ; Child ; Adolescent ; Nitric Oxide ; Retrospective Studies ; Cystic Fibrosis ; Bronchiectasis/diagnosis* ; Asthma/diagnosis* ; Hospitals, Pediatric ; Ciliary Motility Disorders/diagnosis*