Long-term outcomes of very low birth weight infants with intraventricular hemorrhage: a nationwide population study from 2011 to 2019.

BACKGROUND: Advancements in neonatal care have increased preterm infant survival but paradoxically raised intraventricular hemorrhage (IVH) rates. This study explores IVH prevalence and long-term outcomes of very low birth weight (VLBW) infants in Korea over a decade. METHODS: Using Korean National Health Insurance data (NHIS, 2010-2019), we identified 3372 VLBW infants with IVH among 4,129,808 live births. Health-related claims data, encompassing diagnostic codes, diagnostic test costs, and administered procedures were sourced from the NHIS database. The results of the developmental assessments  are categorized into four groups based on standard deviation (SD) scores. Neonatal characteristics and complications were compared among the groups. Logistic regression models were employed to identify significant changes in the incidence of complications and to calculate odds ratios with corresponding 95% confidence intervals for each risk factor associated with mortality and morbidity in IVH. Long-term growth and development were compared between the two groups (years 2010-2013 and 2014-2017). RESULTS: IVH prevalence was 12% in VLBW and 16% in extremely low birth weight (ELBW) infants. Over the past decade, IVH rates increased significantly in ELBW infants (P = 0.0113), while mortality decreased (P = 0.0225). Major improvements in certain neurodevelopmental outcomes and reductions in early morbidities have been observed among VLBW infants with IVH. Ten percent of the population received surgical treatments such as external ventricular drainage (EVD) or a ventriculoperitoneal (VP) shunt, with the choice of treatment methods remaining consistent over time. The IVH with surgical intervention group exhibited higher incidences of delayed development, cerebral palsy, seizure disorder, and growth failure (height, weight, and head circumference) up to 72 months of age (P < 0.0001). Surgical treatments were also significantly associated with abnormal developmental screening test results. CONCLUSIONS: The neurodevelopmental outcomes of infants with IVH, especially those subjected to surgical treatments, continue to be a matter of concern. It is imperative to prioritize specialized care for patients receiving surgical treatments and closely monitor their growth and development after discharge to improve developmental prognosis. Supplementary file2 (MP4 77987 kb).

Diagnostic performance of synthetic relaxometry for predicting neurodevelopmental outcomes in premature infants: a feasibility study.

OBJECTIVES: To investigate the predictability of synthetic relaxometry for neurodevelopmental outcomes in premature infants and to evaluate whether a combination of relaxation times with clinical variables or qualitative MRI abnormalities improves the predictive performance. METHODS: This retrospective study included 33 premature infants scanned with synthetic MRI near or at term equivalent age. Based on neurodevelopmental assessments at 18-24 months of corrected age, infants were classified into two groups (no/mild disability [n = 23] vs. moderate/severe disability [n = 10]). Clinical and MRI characteristics associated with moderate/severe disability were explored, and combined models incorporating independent predictors were established. Ultimately, the predictability of relaxation times, clinical variables, MRI findings, and a combination of the two were evaluated and compared. The models were internally validated using bootstrap resampling. RESULTS: Prolonged T1-frontal/parietal and T2-parietal periventricular white matter (PVWM), moderate-to-severe white matter abnormality, and bronchopulmonary dysplasia were significantly associated with moderate/severe disability. The overall predictive performance of each T1-frontal/-parietal PVWM model was comparable to that of individual MRI finding and clinical models (AUC = 0.71 and 0.76 vs. 0.73 vs. 0.83, respectively; p > 0.27). The combination of clinical variables and T1-parietal PVWM achieved an AUC of 0.94, sensitivity of 90%, and specificity of 91.3%, outperforming the clinical model alone (p = 0.049). The combination of MRI finding and T1-frontal PVWM yielded AUC of 0.86, marginally outperforming the MRI finding model (p = 0.09). Bootstrap resampling showed that the models were valid. CONCLUSIONS: It is feasible to predict adverse outcomes in premature infants by using early synthetic relaxometry. Combining relaxation time with clinical variables or MRI finding improved prediction. CLINICAL RELEVANCE STATEMENT: Synthetic relaxometry performed during the neonatal period may serve as a biomarker for predicting adverse neurodevelopmental outcomes in premature infants. KEY POINTS: • Synthetic relaxometry based on T1 relaxation time of parietal periventricular white matter showed acceptable performance in predicting adverse outcome with an AUC of 0.76 and an accuracy of 78.8%. • The combination of relaxation time with clinical variables and/or structural MRI abnormalities improved predictive performance of adverse outcomes. • Synthetic relaxometry performed during the neonatal period helps predict adverse neurodevelopmental outcome in premature infants.

Mid-term to Long-term Follow-up Results of Reconstruction for Thumb Radial Polydactyly.

BACKGROUND: Preaxial or radial polydactyly is one of the most common hand congenital anomalies in newborns. Contemporary reconstruction methods include ligament reconstruction, excision of the polydactylous thumb, osteotomy, and other surgical techniques according to the type of polydactyly. The purpose of this study was to report mid-term to long-term reconstruction results for thumb (radial) polydactyly. METHODS: We retrospectively reviewed the medical records of patients who underwent reconstruction surgery for preaxial polydactyly. Clinical outcomes, including the range of motion (ROM), pain, and complications, were evaluated. We assessed the final radiographs of the reconstructed thumb to identify the potential development of arthritis or other remaining deformities. After excluding cases without a simple radiograph and cases with a short follow-up period of fewer than 5 years, 26 thumbs were included. The surgical technique followed including excision of polydactylout thumb was tailored to the type of polydactyly. If the nail size of the thumbs was similar, the Bilhaut-Cloquet method was preferred. RESULTS: The mean age of the patients at the surgery and final follow-up was 14.9 months (range: 8 to 30 mo) and 11.9 years (range: 5.8 to 19.3 y), respectively. The mean follow-up was 128.8 months years (range: 60 to 219 mo), and the mean ROM of the thumb was 32.7 and 57.5 degrees in the distal interphalangeal joint (DIP) and metacarpophalangeal (MP) joint, respectively. Ulnar or radial side instability was prominent in 7 patients in the involved joints (26.9%). One patient underwent interphalangeal (IP) fusion for extension lag with pain. The radiologic evaluation revealed that 2 patients developed radiographic evidence of IP joint arthritis (7.7%). Radial deviation of the MP or IP joint existed in 13 cases (range: 5 to 40 degrees) (50.0%), and ulnar deviation of the MP or IP joint existed in 2 cases (range: 19 to 20 degrees) (7.7%). CONCLUSIONS: In mid-term to long-term experience, sequelae such as joint instability, joint stiffness, and remaining deformity cannot be neglected. An unstable MP joint may result if the DIP joint remains stiff or has a lower ROM. LEVEL OF EVIDENCE: Level IV-therapeutic studies.

Metanephrine Negative Pheochromocytoma: A rare case report of dopamine-secreting tumor in an adolescent patient with NF1.

Pheochromocytoma (PCC) occurs in 4% of pediatric neurofibromatosis type 1 (NF1) patients and is mostly characterized by epinephrine and norepinephrine secretion. Herein, we report the first case of a dopamine-secreting PCC in a 13-year-old patient with NF1, in whom a left adrenal mass was incidentally found on abdominal computed tomography (CT) during hypertension workup. Fractionated 24-h urine metanephrine excretion was normal but urine dopamine level was elevated. On 123I-metaiodobenzylguanidine (MIBG) single photon emission tomography/CT (SPECT/CT), focal MIBG uptake was observed. Our multidisciplinary team determined that surgery would be difficult to perform because the tumor was small and the symptoms were vague, with only increased dopamine level. After six months, the tumor increased in size on abdominal CT, with focal significant uptake of the lesion on 6-[18F]fluoro-L-3,4-dihydroxyphenylalanine (18F-FDOPA) PET/CT. Laparoscopic resection was performed, and the mass was histologically confirmed as PCC. Currently, the vital signs of the patient are stable, urine dopamine levels are normal, and there is no abnormal uptake of 18F-FDOPA PET/CT. This study reports a case of a rare dopamine-secreting PCC. When metanephrine is negative in patients at high risk of PCC, focused examination and multidisciplinary approach are needed.

The diagnosis of an imperforate anus in female fetuses.

Imperforate anus is an anomaly caused by a defect in the development of the hindgut during early pregnancy. It is a relatively common congenital malformation and is more common in males. Although there are cases of a solitary imperforate anus, the condition is more commonly found as a part of a wider spectrum of other congenital anomalies. Although urgent reconstructive anorectal surgery is not necessary, immediate evaluation is important and urgent decompressive surgery may be required. Moreover, as there are often other anomalies that can affect management, prenatal diagnosis can help in optimizing perinatal care and prepare parents through prenatal counseling. In the past, imperforate anus was diagnosed by prenatal ultrasonography based on indirect signs such as bowel dilatation or intraluminal calcified meconium. Currently, it is diagnosed by directly checking the perineum with prenatal ultrasonography. Despite advances in ultrasound technology, accurate prenatal diagnosis is impossible in most cases and imperforate anus is detected after birth. Here, we present two cases of imperforate anus in female fetuses that were not diagnosed prenatally.

Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency.

PURPOSE: Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder caused by mutations in the POR gene encoding an electron donor for all microsomal P450 enzymes. It is characterized by adrenal insufficiency, ambiguous genitalia, maternal virilization during pregnancy, and skeletal dysplasia. In this study, we investigated the clinical, hormonal, and molecular characteristics of patients with POR deficiency in Korea. METHODS: This study included four patients with POR deficiency confirmed by biochemical and molecular analysis of POR. Clinical and biochemical findings were reviewed retrospectively. Mutation analysis of POR was performed by Sanger sequencing after polymerase chain reaction amplification of all coding exons and the exon-intron boundaries. RESULTS: All patients presented with adrenal insufficiency and ambiguous genitalia regardless of their genetic sex. Two patients harbored homozygous p.R457H mutations in POR and presented with adrenal insufficiency and genital ambiguity without skeletal phenotypes. The other two patients with compound heterozygous mutations of c.[1329_1330insC];[1370G>A] (p.[I444Hfs*6];[R457H]) manifested skeletal abnormalities, such as craniosynostosis and radiohumeral synostosis, suggesting Antley-Bixler syndrome. They also had multiple congenital anomalies involving heart, kidney, and hearing ability. All patients were treated with physiologic doses of oral hydrocortisone. CONCLUSION: We report the cases of 4 patients with POR deficiency identified by mutation analysis of POR. Although the study involved a small number of patients, the POR p.R457H mutation was the most common, suggesting founder effect in Korea. POR deficiency is rare and can be misdiagnosed as 21-hydroxylase or 17α-hydroxylase/17,20-lyase deficiency. Therefore, molecular analysis is critical for confirmatory diagnosis.

Iron status in small for gestational age and appropriate for gestational age infants at birth.

PURPOSE: This study compared the iron statuses of small for gestational age (SGA) and appropriate for gestational age (AGA) infants at birth. METHODS: The clinical data of 904 newborn infants admitted to the neonatal intensive care unit were reviewed. Blood samples were drawn from the infants within 24 hours after birth. Serum ferritin level was used as a marker of total iron status. RESULTS: In this study, 115 SGA (GA, 36.5±2.9 weeks; birth weight [BW], 1,975±594.5 g) and 717 AGA (GA, 35.1±3.5 weeks; BW, 2,420.3±768.7 g) infants were included. The SGA infants had higher hematocrit levels (50.6%±5.8% vs. 47.7%±5.7%, P<0.05) than the AGA infants. No difference in serum ferritin level (ng/mL) was found between the groups (mean [95% confidence interval]: SGA vs. AGA infants, 139.0 [70.0-237.0] vs. 141.0 [82.5-228.5]). After adjusting for gestational age, the SGA infants had lower ferritin levels (147.1 ng/mL [116.3-178.0 ng/mL] vs. 189.4 ng/mL [178.0-200.8 ng/ mL], P<0.05). Total body iron stores were also lower in the SGA infants than in the AGA infants (185.6 [153.4-211.7] vs 202.2 [168.7-241.9], P<0.05). CONCLUSION: The SGA infants had lower ferritin and total body iron stores than the AGA infants. The SGA infants affected by maternal hypertension who were born at late preterm had an additional risk of inadequate iron store. Iron deficiency should be monitored in these infants during follow-up.

Validation of the Korean Version of the Manchester-Oxford Foot Questionnaire in Patients With Hallux Valgus.

The Manchester-Oxford Foot Questionnaire (MOXFQ) is a practical, reliable, and valid questionnaire for hallux valgus surgery and has been translated into several languages. However, the MOXFQ has not been translated into Korean. In the present study, we aimed to translate and evaluate the validity and reliability of the Korean version of the MOXFQ for patients affected by hallux valgus. In accordance with the guidelines of cross-cultural adaptation, we translated the English version of MOXFQ into Korean and then backward translated it into English. We sent out letters that included the Korean version of the MOXFQ, a visual analog scale measure of pain, and a validated Korean version of the short-form 36-item Health Survey to 135 patients with hallux valgus. A retest was administered after 2 weeks. Of the 135 patients, 104 responded to the first questionnaire, and 82 of the first-time responders returned their second questionnaires. We evaluated the test-retest reliability, internal consistency, concurrent validity, and construct validity of the Korean version of the MOXFQ. The intraclass correlation coefficient for test-retest reliability was 0.82 for the total MOXFQ and ranged from 0.81 to 0.82 for the 3 subscales. Cronbach's alpha for the total MOXFQ was 0.85 and ranged from 0.8 to 0.92 for the 3 subscales. Concurrent and construct validity was supported by significant correlation with the visual analog scale and short-form 36-item Health Survey subscale scores. The Korean version of the MOXFQ was tested, and it was found to be a valid and reliable instrument for patients with hallux valgus.

Reliability and Validity of the Korean Version of the Foot Function Index.

Although translated versions of the Foot Function Index (FFI) in several languages are available, the absence of a Korean version has precluded comparing the data from Korea with the data from other countries using the FFI. We, therefore, evaluated the reliability and validity of the adapted Korean version of the FFI. We translated the English version of the FFI into Korean and back into English. We mailed the Korean version of the visual analog scale, FFI, and the previously validated Medical Outcomes Study Short-Form 36-item questionnaire (SF-36) to 121 patients with treated foot complaints. To evaluate the test-retest reliability and internal consistency, we used the intraclass correlation coefficient and Cronbach's α, respectively. We also evaluated the concurrent and construct validity of Korean version of the FFI by comparing the visual analog scale and SF-36. Cronbach's α was 0.91 and 0.95 for the pain and disability subscales, respectively. The reproducibility was good, and a strong correlation between the FFI and the SF-36 and visual analog scale with related content was observed, indicating good construct validity.The Korean version of the FFI is a reliable and valid questionnaire for the self-assessment of pain and disability in Korean patients with foot complaints.

The Iron Status of Very Low Birth Weight Infants Receiving Multiple Erythrocyte Transfusions during Hospitalization in the Neonatal Intensive Care Unit.

PURPOSE: We investigated the iron status of very low birth weight infants receiving multiple erythrocyte transfusions during hospitalization in the neonatal intensive care unit (NICU). METHODS: We enrolled 46 very low birth weight infants who were admitted to the Kyungpook National University Hospital between January 2012 and December 2013. Serum ferritin was measured on their first day of life and weekly thereafter. We collected individual data of the frequency and volume of erythrocyte transfusion and the amount of iron intake. RESULTS: A total of 38 (82.6%) of very low birth weight infants received a mean volume of 99.3±93.5 mL of erythrocyte transfusions in NICU. The minimum and maximum serum ferritin levels during hospitalization were 146.2±114.9 ng/mL and 456.7±361.9 ng/mL, respectively. The total volume of erythrocyte transfusion was not correlated to maximum serum ferritin concentrations after controlling for the amount of iron intake (r=0.012, p=0.945). Non-transfused infants took significantly higher iron intake compared to infants receiving ≥100 mL/kg erythrocyte transfusion (p<0.001). Minimum and maximum serum ferritin levels of non-transfused infants were higher than those of infants receiving <100 mL/kg erythrocyte transfusions (p=0.026 and p=0.022, respectively). Infants with morbidity including bronchopulmonary dysplasia or retinopathy of prematurity received a significantly higher volume of erythrocyte transfusions compared to infants without morbidity (p<0.001). CONCLUSION: Very low birth weight infants undergoing multiply erythrocyte transfusions had excessive iron stores and non-transfused infants also might had a risk of iron overload during hospitalization in the NICU.