No description available.

A research report submitted to the Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, in partial fulfillment of the requirements for the degree of Master of Medicine in the branch of Paediatrics Johannesburg, 2014. / Background: To describe the relative frequency and distribution of neonatal tumours; to determine the age at presentation to the oncology unit and to determine the extent of the delay in referral. To describe any associated syndromes in individual malignancies. Material and methods: A retrospective case series was performed covering 24 years. Demographics, means of diagnosis, treatment and outcome details were reviewed. Results: There were a total of 2626 patients that presented to the oncology department with suspected malignancies. Out of that, 2308 patients were diagnosed with a malignancy and 318 patients had benign tumours. Over the 24 year period 117 tumours were diagnosed in neonates (4,4%). Due to incomplete data 29 patients were excluded. Of the remaining patients, 61 were diagnosed with benign tumours and 27 with malignant tumours. The male to female ratio was 1: 1,5. The mean age at presentation was 16 days. The mean age at diagnosis was 36 days. Histology and radiology were diagnostic in 40,9% and 19,3% respectively. A combination of histology and radiology was used to make a diagnosis in 21,6% of patients, 11,4% of diagnoses were based on clinical examination and 6,8% on biochemistry and haematology. Malignant soft tissue tumours were the most common malignancy (25,9%) followed by renal tumours (18,5%), leukaemia (14,8%), neuroblastomas (11,1%) and retinoblastomas (11,1%). Teratomas (45,9%) and benign vascular tumours (44,3%) were the most common benign tumours. Chemotherapy was used to treat 22 neonates, while 50 underwent surgical removal of the tumour. Half (51,9%) of the patients diagnosed with a malignant tumour died, while 11,1% of patients were iv lost to follow up. Just under 10% (8,2%) of the patients diagnosed with a benign tumour died, while 44,3% of patients were lost to follow up. The overall mortality amongst patients diagnosed with benign or malignant tumours was 21,6%. Conclusion: There is a much higher incidence of benign tumours diagnosed in neonates (69,3%) compared to older children (12,1%). Only 1,2% of all childhood malignancies in our unit occurred in the neonatal period, which is slightly lower than the reported 2%. Two of the major issues that need to be addressed in the future management of neonatal tumours are prompt referral for prompt diagnoses and better follow up.

Pompe disease is a rare autosomal recessive condition caused by a deficiency in lysosomal alpha glucosidase. It is a progressive and often fatal muscular disease with wide variation in clinical presentation. Two broad clinical categories of Pompe disease have been identified; infantile- and late- onset. In the past decade, enzyme replacement therapy has shown promising results in treating the underlying pathology, resulting in improved clinical outcome. Clinical trials indicating that initiation of treatment at an earlier disease stage leads to a higher chance of preventing permanent damage have led to the proposition of introducing newborn screening for Pompe disease. All forms of Pompe disease are caused by the same pathology, and thus newborn screening has the potential to identify those affected with the more severe infantile-onset form as well as those with late-onset disease who may not present with symptoms until late in life. / The aim of this study was to investigate attitudes towards newborn screening for Pompe disease among affected adults, their family members and parents of ‘healthy’ children. Affected adults were recruited through support groups in Australia, the United Kingdom and United States; family members of affected adults were recruited from Australia; and parents of ‘healthy’ children were recruited through maternal child health clinics in Victoria, Australia. Participants completed questionnaires exploring their experiences of Pompe disease and/or newborn screening and their attitudes towards newborn screening for Pompe disease. / Support for newborn screening for Pompe disease was high among adults with Pompe disease (85.4%), parents of ‘healthy’ children (93.9%) and all three family members of affected adults who participated in this study. However, when offered a theoretical screening test that would only identify infantile-onset Pompe disease, 42.1% of adults with Pompe disease and 53.1% of parents of ‘healthy’ children preferred this screen, indicating that these stakeholders have some concerns regarding detection of late-onset disease in infancy. Factors influencing attitudes were investigated and support for newborn screening in affected adults was highly correlated with age of onset of disease; a preference to have been diagnosed in infancy; a belief that an earlier diagnosis would have made symptoms easier to cope with; and a stronger confidence in the efficacy of enzyme replacement therapy. / Potential benefits of diagnosis of late-onset disease in infancy were identified as being able to avoid the diagnosis odyssey, access enzyme replacement therapy at the optimal time, and allow individuals to make appropriate life choices. Participants identified increased anxiety in parents and the potential for over-protectiveness, in addition to possible discrimination, as harms of newborn screening for Pompe disease. / Families in which an infant is identified with the potential for late-onset Pompe disease will need assistance to adapt to and manage this diagnosis, so that anxiety is minimised and unnecessary limitations are not placed on the child. Whilst potential medical and psychosocial benefits can result from newborn screening, it is important to carefully consider the potential for harm and the resources required to appropriately manage these so that ultimately benefit outweighs harm.

Thesis (M. Med. Sc.)--University of Hong Kong, 2002. / Includes bibliographical references (leaves 74-83).

As a baby is born, the umbilical cord is cut and clamped, then it dries up and detaches. During the course of cord detachment and before the wound completely heals up, umbilical cord care is essential for preventing any local infection, which may lead to septicemia or infection of other organs. However, the yellowish and blood-stained discharge from the base of the cord and the appearance of the cord stump often causes anxiety among parents and make them hesitant to provide cord care. Hence, healthcare professionals are responsible for explaining the importance of proper cord care and provide consistent information on the course of cord detachment. This will decrease parental anxiety or the cord-related issues and improve compliance. Currently, different solutions are being used at different healthcare facilities. This leads to confusion among healthcare professionals and parents. Moreover, as evidenced in many studies, different solutions can affect the umbilical cord detachment time and prolongation of umbilical cord separation time, which can cause immense anxiety among the parents. Hence, a solution that is effective in reducing the umbilical cord separation time can help to alleviate parental anxiety. Dry care, such as using cold boiled water to clean the cord, is suggested to be suitable for umbilical cord care as it shortens the umbilical cord separation time compares to alcohol, which is still being used in many healthcare facilities. Therefore, this proposed innovation attempts to promote dry care as the standard umbilical cord care practice, to shorten the umbilical cord separation time, which in turn, decreases parental anxiety and the workload related to cord care for the healthcare professionals. The implementation of dry care was explored and it was found that this innovation is cost-effective and has a high transferability and feasibility in the current setting of Hong Kong Maternal and Child Health Clinics. An evidence-based practice guideline was developed and would be launched initially on a trial basis at one of the Maternal and Child Health Clinics after a well-developed communication and implementation plan is established. It is expected to take about 12 months from gaining approval, implementation of the innovation, data collection and to the last stage, program evaluation. / published_or_final_version / Nursing Studies / Master / Master of Nursing

published_or_final_version / abstract / toc / Speech and Hearing Sciences / Master / Master of Science in Audiology

No description available.

No description available.

Background: Thrombocytopenia is common in sick preterm babies in the first day of life. Despite this, platelet production in thrombocytopenic preterm babies has rarely been assessed. Methods: To address this problem I have developed miniaturised assays to study circulating megakaryocyte (MK) progenitors (BFU-MK and CFU-MK), total cultured MK precursors and mature MK, by culturing mononuclear cells purified from 0.5-1ml of preterm peripheral blood. MK lineage colonies and cells are identified by a MK specific anti-glycoprotein IIb/IIIa antibody (CD61) by APAAP. Results: i) Normal values for these cells at birth were established in cord blood from healthy term and preterm babies. ii) Circulating BFU-MK/CFU-MK, total cultured MK precursors and mature MK were then prospectively studied in 63 preterm babies (gestational age 24-34 wks). iii) At birth 18 (69%) of the thromocytopenic babies were also neutropenic. Conclusion: These data indicate that the principal cause of the thrombocytopenia and neutropenia in the preterm babies studied was <I>reduced platelet</I> <I>and neutrophil production</I> occurring as a consequence of reduced numbers of MK and neutrophil progenitors respectively. Taken together these data suggest the haematological abnormalities characteristic of new-born born to mothers with PIH or with IUGR (thrombocytopenia, neutropenia and polycythaemia) are a consequence of dysregulation of <I>fetal haemopoiesis</I> occurring proximal to committed MK and neutrophil progenitors, most likely at the level of the primitive multipotent haemopoietic stem cell (CFU-GEMM). Finally the value of miniaturised MK progenitor and precursor assays in evaluating rare or unusual cases of neonatal thrombocytopenia has been demonstrated. In the three examples investigated this approach provided unique insights into the pathogenesis of the thromocytopenia in each case.

The purpose of this study was to investigate whether young infants would differentiate sedative vocal music in their mother tongue versus sedative vocal music in a foreign language. It was hypothesized that if infants did discriminate between the two languages, they would demonstrate a preference for their mother tongue. The responses of ten one- to four-day-old full-term infants were recorded by measuring their sucking rate while presenting lullabies. The infants were randomly and evenly divided into two groups. The first group heard four presentations of the mother tongue version followed by four presentations of the foreign language version. The second group heard the foreign language version of a lullaby followed by the same lullaby sung in the infant's mother tongue. A 5-second interval of silence was spaced between lullabies. The lullaby chose was Twinkle Twinkle Little Star. It was performed by a classically trained soprano, in English, French, and Italian, and Russian. Russian was chosen as the foreign language and English, French, and Italian covered the mother tongues for all infants in the study. / Results revealed that infants were not able to detect a difference between the mother tongue version of the lullaby as opposed to the foreign language version. However, the results of the present study may be attributed to an insufficient sample size and to the ineffectiveness of the methodology employed.