A total of 30 hydropic fetuses, including 25 cases from published reports and 5 from our own series, were reviewed, validated, and analyzed. This review yielded the following key findings: (1) Unlike most cases of nonimmune hydrops fetalis (NIHF), hydrops caused by syphilis is not only preventable but also treatable, with complete resolution possible when appropriately managed. (2) Syphilis-associated hydrops carries a poor prognosis if timely and appropriate treatment is not administered. (3) Based on limited data, intravenous penicillin G is probably more effective than intramuscular benzathine penicillin in treating hydropic fetuses. (4) Middle cerebral artery peak systolic velocity (MCA-PSV) measurements are increasingly used as a reliable and noninvasive tool for assessing fetal anemia, determining the need for intrauterine transfusion (IUT), and monitoring treatment response. (5) A significant number of cases did not receive prenatal treatment due to false-negative serologic results caused by the prozone effect, as well as the omission of syphilis from the differential diagnosis of NIHF, leading to missed prenatal diagnoses. (6) IUT may help mitigate cellular damage in developing vital organs caused by anemic hypoxia, particularly while awaiting the effects of medical treatment. In conclusion, the modern approach to managing this ancient disease includes: (1) prioritizing intensive intravenous penicillin G therapy over conventional intramuscular benzathine penicillin G; (2) utilizing MCA-PSV in conjunction with other indicators of anemia to monitor its severity; and (3) implementing IUT to prevent anemic hypoxic injury in cases where the hematocrit falls below 30%.

Background and Aims: Preterm newborns are particularly susceptible to hypovitaminosis D, potentially impairing bone mineralization. In Thailand, data on its prevalence and standardized supplementation protocols remain limited. This study aimed to compare the efficacy of two vitamin D3 dosages (400 IU/day vs. 800 IU/day) in improving serum vitamin D concentrations and metabolic bone parameters in preterm newborns. Methods: A randomized controlled trial was conducted in preterm newborns born at ≤32 weeks’ gestation or with birth weight ≤1500 g. Preterm newborns were randomized to receive either 400 IU or 800 IU/day of vitamin D3. Serum 25-hydroxyvitamin D (25(OH)D) was measured using electrochemiluminescence immunoassay (ECLIA). Metabolic bone parameters—including calcium, phosphorus, alkaline phosphatase, and albumin—were assessed at baseline and again at six weeks of age. Results: Of the 38 enrolled infants, baseline 25(OH)D levels were comparable between groups (14.8 ± 4.8 ng/mL in the 800 IU/day group vs. 14.7 ± 6.9 ng/mL in the 400 IU/day group). At six weeks, the 800 IU group demonstrated significantly higher 25(OH)D levels (47.3 ± 21.0 ng/mL vs. 32.0 ± 14.2 ng/mL; p = 0.013), with a large effect size (Cohen’s d = 0.85) and the difference-in-differences of +15.7 ng/mL. The prevalence of hypovitaminosis D declined from 89% to 5% in the 800 IU/day group and from 74% to 32% in the 400 IU/day group (p = 0.036). No significant differences in metabolic bone parameters or signs of toxicity were observed. Conclusions: Vitamin D3 supplementation at 800 IU/day significantly improved vitamin D status and reduced hypovitaminosis D in preterm newborns, without observed toxicity.

Epidermolysis bullosa (EB) is a genetically heterogeneous skin fragility disorder. Some subtypes also involve other organs, including the pulmonary, gastrointestinal, and renal systems. One severe form, junctional epidermolysis bullosa (JEB), is characterized by cleavage within the skin layers. The rarest and most lethal spectrum of this disorder includes pyloric atresia (PA), known as JEB‐PA. The number of reported cases in Thailand is limited. Using trio whole exome sequencing, we identified a Thai newborn with lethal JEB‐PA caused by novel null compound heterozygous variants in ITGB4 . The patient carries a known nonsense variant (c.2533C>T) and a novel frameshift indel variant (c.1614delT) in ITGB4 , inherited from her parents. Both are null variants that result in a premature termination codon (PTC). A comprehensive review of existing literature was conducted to gather information on disease‐causing variants and genotype–phenotype correlations in JEB‐PA. We summarized 50 previously reported JEB‐PA cases, detailing disease severity and ITGB4 variants. We found that nonsense and frameshift indels were predominant in lethal cases (32/62 alleles), whereas missense variants were more common in nonlethal forms (18/38 alleles). Pathogenic variants were most frequently located in the Fibronectin II–like domain (FnIII) and cytoplasmic domain (CP) for null variants and in the von Willebrand factor Type A (VWFA) domain for missense variants. We emphasize the importance of genetic testing in these heterogeneous skin disorders. Molecular results reveal the disorder’s diagnosis, provide a precise prognosis, and guide the genetic counseling process for the family. Moreover, understanding pathomolecular mechanisms can lead to potential future treatments.

Background: Preterm neonates have a significantly higher mortality rate compared to full-term neonates. The Modified NEOMOD Score (mNEOMOD) predicts neonatal mortality in preterm neonates with high sensitivity and specificity. Objective: This study aimed to evaluate the efficacy of the mNEOMOD in predicting neonatal mortality among preterm neonates and identify associated variables associated with increased neonatal mortality. Methods: This diagnostic test study included neonates with a gestational age of ≤ 32 weeks admitted to the NICU from 2018 to 2022 at Chiang Mai University Hospital. The mNEOMOD assessed dysfunction across eight organ systems based on the worst cumulative score during the first seven days of life. Predictive accuracy was determined using the Area Under the ROC Curve (AUC). Clinical and demographic variables were compared between survival and death groups. Results: Among 280 neonates, 277 (98.9%) had multi-organ dysfunction (MOD), with a mortality rate of 10.7%. The mNEOMOD showed higher scores in the mortality group compared to the survival group (median score: 13 vs. 5). The predictive accuracy was highest at a cutoff value of 9, with 100% sensitivity and 91.2% specificity. Significant variables for increased mortality included severe intraventricular hemorrhage (aOR 8.76, p < 0.001) and APGAR score < 7 at 5 min (aOR 3.46, p 0.010). Conclusion: The mNEOMOD is reliable tool for predicting neonatal mortality in preterm neonates ≤ 32 weeks gestation.

Background: The American Academy of Pediatrics recommended the use of pre-discharge delta total bilirubin (DeltaTB) to determine appropriate follow-up timing. Objectives: To determine the proportion of neonates requiring post-discharge phototherapy after applying the pre-discharge DeltaTB approach, and to assess its effectiveness in predicting phototherapy needs. Methods: This is a prospective cohort study conducted at Chiang Mai University Hospital. The pre-discharge DeltaTB, defined as the difference between the bilirubin level and the phototherapy threshold at the time of measurement. Based on pre-discharge DeltaTB (mg/dL), patients were categorized into 3 risk groups: high-risk (< 3.5), moderate risk (3.5–6.9) and low risk (> 7). Post-discharge phototherapy, pre-discharge TB, and number of follow-up were compared between the risk groups. DeltaTB levels in different age intervals were analyzed using ROC curve analysis to determine the cutoff in each interval. Results: Out of 150 neonates, 31 (20.6%) required post-discharge phototherapy, with 9 (6.0%) neonates were classified as requiring subthreshold phototherapy. There were 17.3%, 53.3% and 19.3% of 150 neonates categorized as high, moderate, and low risk by pre-discharge DeltaTB, respectively. The high-risk group, had the highest proportion of post-discharge phototherapy, mean pre-discharge bilirubin level and number of follow-up visits and were significantly different from other groups ( P-value < 0.001). The optimal timing for measuring pre-discharge bilirubin was aged 49–72 h (AUC of 0.851). Conclusion: Pre-discharge DeltaTB effectively stratified neonates by risk for post-discharge phototherapy and may guide timely follow-up to prevent severe hyperbilirubinemia, with significantly higher rates in the high-risk group.