Pulmonary involvement in Niemann-Pick C type 1.

Niemann-Pick disease type C (NPC) is a lysosomal storage disorder caused by mutations in either NPC-1 or NPC-2 genes, resulting in abnormal intracellular cholesterol trafficking. The estimated prevalence of NPC disease is 1: 120,000-150,000. Lung involvement has been described in only few patients with NPC, mostly NPC2. We describe a series of 12 patients, originating from six families all homozygotes to the p.R404Q (c.1211G > A) mutation of NPC1 gene; nine of them had significant pulmonary manifestations. All patients were followed in our medical center. Nine of the patients had pulmonary involvement, with recurrent pneumonia as the first manifestation in most, followed by recurrent wheezing episodes and subsequent development of interstitial lung disease with chronic need for oxygen support. Seven patients were reported of having interstitial disease by various imaging modalities.Conclusion: Pulmonary involvement in NPC1 is more common than previously reported. It is characterized as primary obstructive and restrictive lung disease and not only as part of neurologic sequel of NPC. It can lead to respiratory insufficiency and death from respiratory failure. What is Known: • Lung involvement has been described in only few patients with NPC. • Most reported NPC cases with pulmonary involvement were of NPC2. What is New: • Pulmonary involvement in NPC1 is more common than previously reported. • Pulmonary involvement in NPC1 should be considered as part of the disease and be thoroughly assessed and managed.

Activity of Von Willebrand factor and levels of VWF-cleaving protease (ADAMTS13) in preterm and full term neonates.

Von Willebrand Factor (VWF) has a central role in primary hemostasis. Its biological activity is related to the size of VWF multimers, spontaneously binding to platelets and inducing circulating microthrombi formation. This process is down-regulated by the VWF cleaving protease ADAMTS13 (A Disintegrin and Metalloprotease with ThromboSpondin motif). To date, information regarding the levels of ADAMTS13 in neonates and preterm infants is scarce. Our aim was to study ADAMTS13, VWF antigen (Ag) and Ristocetin cofactor (RiCof) activity in neonates and evaluate potential correlations with perinatal complications. Our cohort consisted of 128 (48/128: born preterm) neonates, born in Sheba Medical Center and followed until hospital discharge. Control group consisted of 20 healthy adults. As expected, a significant elevation of VWF:Ag was observed in preterm and term infants compared to adults. VWF:Ag levels were highest in full term infants (Median 129.0 IQR 33.8) and lowest in adults (Median 119.0 IQR 58.5) (p<0.05), and RiCoF levels in neonates were higher than in adults. ADAMTS13 was significantly (p<0.05) higher in preterm babies in comparison to full term and adult controls. Neonates that underwent stressful conditions or experienced vascular complications such as IUGR, ROP, NEC, had lower levels of ADAMTS13 in our study. Further studies are required to validate and asses potential significance of these findings.

The use of short message services (SMS) to provide medical updating to parents in the NICU.

OBJECTIVE: Premature delivery and prolonged hospitalization of infants in the neonatal intensive care unit (NICU) are very stressful for parents. As technology has advanced, short message services (SMS) have been used increasingly in the medical disciplines. To date, the use of SMS for updating patients and families regarding medical information has not been reported. We implemented the SMS technique to daily update the parents regarding the health status of their preterm infant. The objective of this study was to evaluate the use of SMS technology and to assess its impact on the parents and the nursing staff. STUDY DESIGN: Parents and nurses completed questionnaires at two time periods: pre-SMS implementation (pre-SMSi) and post-SMS implementation (post-SMSi). The parent questionnaires included statements about medical information delivery, communication and trust between parents and medical staff, parental anxiety and overall satisfaction. The nurse questionnaires included statements about the expected and actual impact on their workload. RESULTS: Comparison of the parents' responses at the two time periods indicated that in the post-SMSi time period, they felt that the physician was more available when needed (P=0.002), they were more comfortable about approaching the physician (P=0.001) and more satisfied with the medical information provided by the staff (P=0.03). In the post-SMSi period, 78.1% of the nurses noted that the SMS communication is a convenient and user-friendly method. CONCLUSIONS: SMS updating is an easy and user-friendly technology that enriches the modalities of information delivery to parents of hospitalized preterm infants. It is a complementary and useful tool for encouraging and improving personal communication between parents and medical staff and should be considered part of quality improvement in health care.

Maternal anti-D prophylaxis during pregnancy and risk of hemolysis among preterm infants.

OBJECTIVE: To evaluate whether Rh-positive preterm newborn infants born to Rh-negative mothers treated with prophylactic anti-D immunoglobulins exhibited signs of hemolytic reaction, including anemia and hyperbilirubinemia. STUDY DESIGN: Retrospective data were collected for 94 Rh-positive preterm newborns born at gestational age (GA) 28 to 34 weeks to 76 Rh-negative mothers and for matched controls. RESULT: We found 11.7% positive Coombs' tests among infants in the study group and slightly higher bilirubin levels at birth and on the following 3 days. No differences were recorded between the study and the control groups for hematocrit levels throughout hospitalization, maximal bilirubin level, phototherapy treatment or the need for blood transfusion. CONCLUSION: Among preterm Rh-positive newborn infants born to Rh-negative mothers, there appears to be no evidence of significant hemolytic reaction derived from placental anti-D transfer. Further prospective studies are needed to confirm these findings in order to support anti-D administration close to preterm birth.

Neonatal isolated rectal bleeding and the risk of hypersensitivity syndromes.

OBJECTIVE: When rectal bleeding occurs in an otherwise asymptomatic child, it can be classified as isolated rectal bleeding (IRB). Among the different etiologies suggested for IRB, one of the most common is a hypersensitivity reaction of the bowel mucosa to digested antigens. The objective of this study was to assess the long-term outcomes and the risk of developing hypersensitivity syndromes among infants following an IRB event. STUDY DESIGN: A historical prospective comparative study was carried out. The study compared 77 infants who were born at the Sheba Medical Center in Israel during the period 2002 to 2009 and who experienced a neonatal IRB event to 77 infants with the same gestational age, but without IRB. Data were obtained from hospital records and from phone interviews with the parents regarding hypersensitivity syndrome between the ages of 3 and 10 years. RESULT: The IRB group was not at an increased risk of developing a hypersensitivity syndrome or gastrointestinal symptoms compared to the control group. Longer duration of breast-feeding was found to be related to a lower incidence of hypersensitivity symptoms. CONCLUSION: An IRB event in the neonatal period does not increase the risk of developing hypersensitivity syndromes or food allergies during childhood.

Prediction of participation and sensory modulation of late preterm infants at 12 months: a prospective study.

The aim of the study was to prospectively assess the differences in participation and sensory modulation between late preterm infants (LPI) and term babies, and to predict it by LPI characteristics. The study population includes 124 late preterm infants at gestational age between 34 and 35 6/7 weeks who were born at the same medical center. The control group comprised of 33 term babies (18 boys, 15 girls), born during the same period and location (mean age 12.47, SD = 0.73). Sensory modulation was assessed by the test of sensory functions in infants and the infant/toddler sensory profile and for assessment of participation and parents' satisfaction we used questionnaires. Term infants had better sensory modulation than LPI. Approximately 10% of the sensory modulation of participants in the study was explained by gestational age and head circumference. LPI participation and parental satisfaction decreased in the LPI group. Among all the explanatory variables only multiple gestations and head circumference contributed to the explained variance of participation (16%), and parents' satisfaction (13%). At age of 1 year, children born as late preterm are at increased risk of developing sensory modulation disorder, showing less participation, and resulting in less parental satisfaction.

Impaired platelet function in neonates born to mothers with diabetes or hypertension during pregnancy.

OBJECTIVE: In a recent pilot study, platelet function of 4 neonates born to mothers with pregnancy-induced hypertension (PIH) was found to display lower platelet adhesion compared to healthy neonates. The present study aimed at confirming and validating these findings. STUDY DESIGN: Platelet adhesion was measured using a Cone Platelet Analyzer (CPA). The platelet function in the cord blood of 35 term infants born to mothers with PIH or gestational diabetes (GD) was compared with the platelet function of 196 infants born to healthy mothers. All neonates were monitored for perinatal complications until hospital discharge. RESULTS: Neonates born to mothers with PIH and with GD displayed poorer platelet function, with decreased platelet surface coverage as tested by CPA (control group 8.53+/-3.81%; PIH: 5.9+/-3.91%, p=0.003; GD: 6.64+/-3.64%, p=0.005). No association was found between CPA values and post-natal complications. CONCLUSIONS: Maternal PIH or GD is associated with impaired platelet function in neonates. The clinical impact of these findings is yet to be studied.

Leukocytosis in very low birth weight neonates: associated clinical factors and neonatal outcomes.

OBJECTIVE: Primary objective was to identify clinical factors and outcomes associated with leukocytosis in very low birth weight (VLBW) neonates. Secondary objective was to compare outcomes between infants with early-onset (72 h). STUDY DESIGN: A retrospective matched cohort study of VLBW neonates born at or=40,000 was undertaken. Matched infants had no leukocytosis and were of similar gestational age. Data on common neonatal morbidities were collected from charts. RESULT: Leukocytosis was identified in 96 infants giving an incidence rate of 6.1%. Of all, 94 matched infants without leukocytosis were identified. There were no differences in the demographic features and risk factors between the two groups. The incidence of confirmed infection among infants with leukocytosis was 22%. No differences in common neonatal morbidities and mortality were identified between two groups. Late-onset leukocytosis (>or=72 h of age) was associated with sepsis and necrotizing enterocolitis. No differences in any of the other outcomes between early-onset and late-onset leukocytosis were identified. CONCLUSION: Leukocytosis, especially late onset, was associated with infection in VLBW infants. Late-onset leukocytosis was also associated with necrotizing enterocolitis indicating that postnatal age at time of leukocytosis should be considered when formulating clinical decisions.

The assessment of depression awareness and help-seeking behaviour: experiences with the International Depression Literacy Survey.

BACKGROUND: Depression causes substantial disease burden in both developed and developing countries. To reduce this burden, we need to promote understanding of depression as a major health condition. The International Depression Literacy Survey (IDLS) has been developed to assess understanding of depression in different cultural and health care settings. METHODS: Four groups of Australian university students completed the survey: medical students in second (n = 103) and fourth (n = 82) years of a graduate course, ethnic Chinese students (n = 184) and general undergraduate students (n = 38). RESULTS: Differences between the student groups were evident, with fourth year medical students demonstrating greater general health and depression literacy than second year medical students. Australian undergraduate students demonstrated better depression literacy than those from ethnic Chinese backgrounds. Ethnicity also influenced help seeking and treatment preferences (with more Chinese students being inclined to seek help from pharmacists), beliefs about discrimination and perceptions regarding stigma. CONCLUSION: The IDLS does detect significant differences in understanding of depression among groups from different ethnic backgrounds and between those who differ in terms of prior health training. These preliminary results suggest that it may be well suited for use in a wider international context. Further investigation of the utility of the IDLS is required before these results could be extrapolated to other populations.

Paroxetine use throughout pregnancy: does it pose any risk to the neonate?

A newborn of a SSRI-treated mother presented with lethargy, no crying, and no response to tactile stimulation. EEG findings were abnormal. Laboratory and clinical evaluations were normal. He recovered at the age of two weeks. Serotonin is a neurotransmitter that has an important roll in pain modulation during fetal neurodevelopment. We suspect these symptoms are attributed to the intrauterine exposure to paroxetine, through modulation of pain signals.

[Hemophagocytic syndrome].

Hemophagocytic syndrome is a rare, fulminant disease characterized by generalized histiocytic proliferation associated with phagocytosis of erythrocytes, platelets, and to a lesser extent, of white blood cells. We report a 2-year-old boy admitted with high fever and irritability, with a rash, marked hepatomegaly and generalized lymphadenopathy. Liver function tests were abnormal and there was thrombocytopenia and hyperlipidemia. Bone marrow aspiration revealed hemophagocytosis. Despite intensive treatment with steroids, intravenous immunoglobulin and cytotoxic drugs, he died within 10 weeks.