Hypophosphatasia is a clinically heterogeneous inheritable disorder characterized by defective bone mineralization and the deficiency of serum and tissue liver/bone/kidney alkaline phosphatase activities. Due to the mineralization defect of the bones, various skeletal findings can be radiologically observed in hypophosphatasia. Bowing and Bowdler spurs of long bones are the characteristic findings. The Bowdler spurs reported on in the previous pertinent literature were observed in the perinatal aged patients and these lesions have rarely involved adolescents. We herein report on a 14-year-old girl with fibular Bowdler spurs.
Adolescent ; Bone Diseases/pathology/radiography ; Diagnosis, Differential ; Female ; Fibula/pathology/*radiography ; Humans ; Hypophosphatasia/pathology/*radiography

Lethargy in newborns usually indicates central nervous system dysfunction, and many conditions such as cerebrovascular events, infections, and metabolic diseases should be considered in the differential diagnosis. Nonketotic hyperglycinemia is an autosomal recessive error of glycine metabolism, characterized by myoclonic jerks, hypotonia, hiccups, apnea, and progressive lethargy that may progress to encephalopathy or even death. Cerebral sinovenous thrombosis is a rare condition with various clinical presentations such as seizures, cerebral edema, lethargy, and encephalopathy. Here, we report the case of a newborn infant who presented with progressive lethargy. An initial diagnosis of cerebral venous sinus thrombosis was followed by confirmation of the presence of nonketotic hyperglycinemia.
Apnea ; Brain Edema ; Central Nervous System ; Diagnosis ; Diagnosis, Differential ; Glycine ; Hiccup ; Humans ; Hyperglycinemia, Nonketotic* ; Infant, Newborn* ; Lethargy ; Metabolic Diseases ; Metabolism ; Muscle Hypotonia ; Myoclonus ; Seizures ; Sinus Thrombosis, Intracranial ; Thrombosis*

PURPOSE: Vitamin D plays a key role in immune function. Vitamin D deficiency may play a role in the pathogenesis of infections, and low levels of circulating vitamin D are strongly associated with infectious diseases. In this study, we aimed to evaluate the effects of low vitamin D levels in cord blood on neonatal sepsis in preterm infants. METHODS: One hundred seventeen premature infants with gestational age of <37 weeks were enrolled. In the present study, severe vitamin D deficiency (group 1) was defined as a 25-hydroxyvitamin D (25(OH)D) concentration <5 ng/mL; vitamin D insufficiency (group 2), 25(OH)D concentration ≥5 ng/mL and <15 ng/mL; and vitamin D sufficiency (group 3), 25(OH)D concentration ≥15 ng/mL. RESULTS: Sixty-three percent of the infants had deficient levels of cord blood vitamin D (group 1), 24% had insufficient levels (group 2), and 13% were found to have sufficient levels (group 3). The rate of neonatal sepsis was higher in group 2 than in groups 1 and 3. CONCLUSION: There was no significant relationship between the cord blood vitamin D levels and the risk of neonatal sepsis in premature infants.
Communicable Diseases ; Fetal Blood* ; Gestational Age ; Humans ; Infant ; Infant, Newborn ; Infant, Premature* ; Sepsis* ; Vitamin D Deficiency ; Vitamin D* ; Vitamins*

PURPOSE: The EDIN scale (Échelle Douleur Inconfort Nouveau-Né, neonatal pain and discomfort scale) and heart rate variability has been used for the evaluation of prolonged pain. The aim of our study was to assess the value of the newborn infant parasympathetic evaluation (NIPE) index and EDIN scale for the evaluation of prolonged pain in preterm infants with chest tube placement due to pneumothorax. METHODS: This prospective observational study assessed prolonged pain in preterm infants with a gestational age between 33 and 35 weeks undergoing installation of chest tubes. Prolonged pain was assessed using the EDIN scale and NIPE index. RESULTS: There was a significant correlation between the EDIN scale and NIPE index (r=−0.590, P=0.003). Prolonged pain is significantly more severe in the first 6 hours following chest tube installation (NIPE index: 60 [50–86] vs. 68 [45–89], P < 0.002; EDIN score: 8 [7–11] vs. 6 [4–8], P < 0.001). CONCLUSION: Prolonged pain can be accurately assessed with the EDIN scale and NIPE index. However, evaluation with the EDIN scale is time-consuming. The NIPE index can provide instantaneous assessment of prolonged and continuous pain.
Chest Tubes ; Gestational Age ; Heart Rate* ; Heart* ; Humans ; Infant ; Infant, Newborn ; Infant, Premature* ; Observational Study ; Pain Measurement ; Pneumothorax* ; Prospective Studies