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2.
Bone ; 119: 57-64, 2019 02.
Article in English | MEDLINE | ID: mdl-29550266

ABSTRACT

The relationship between fat, bone and systemic metabolism is a growing area of scientific interest. Marrow adipose tissue is a well-recognized component of the bone marrow milieu and is metabolically distinct from current established subtypes of adipose tissue. Despite recent advances, the functional significance of marrow adipose tissue is still not clearly delineated. Bone and fat cells share a common mesenchymal stem cell (MSC) within the bone marrow, and hormones and transcription factors such as growth hormone, leptin, and peroxisomal proliferator-activated receptor γ influence MSC differentiation into osteoblasts or adipocytes. MSC osteogenic potential is more vulnerable than adipogenic potential to radiation and chemotherapy, and this confers a risk for an abnormal fat-bone axis in survivors following cancer therapy and bone marrow transplantation. This review provides a summary of data from animal and human studies describing the relationship between marrow adipose tissue and hematopoiesis, bone mineral density, bone strength, and metabolic function. The significance of marrow adiposity in other metabolic disorders such as osteoporosis, diabetes mellitus, and estrogen and growth hormone deficiency are also discussed. We conclude that marrow adipose tissue is an active endocrine organ with important metabolic functions contributing to bone energy maintenance, osteogenesis, bone remodeling, and hematopoiesis. Future studies on the metabolic role of marrow adipose tissue may provide the critical insight necessary for selecting targeted therapeutic interventions to improve altered hematopoiesis and augment skeletal remodeling in cancer survivors.


Subject(s)
Adiposity/physiology , Bone Marrow/physiology , Bone and Bones/physiology , Energy Metabolism , Hematopoiesis , Adipose Tissue/physiology , Animals , Humans
3.
Ir Med J ; 109(2): 356, 2016 Feb 19.
Article in English | MEDLINE | ID: mdl-27685690

ABSTRACT

Many countries have established regulations regarding growth hormone (GH) treatment in children, to standardise care and reduce cost. In this study, we describe current practice in Ireland surrounding child measurement and the approach to diagnosis of GH deficiency. A questionnaire was sent to 139 paediatricians in Ireland and 35 (9 paediatric endocrinologists) responded. Only 13 (37.1%) use the recommended 2-person technique for measuring children under 2. Amongst GH prescribers, there were a variety of GH Stimulation Tests used, sex steroid priming was used by 8 (80%) and the general cut off for a passed test was consistent (7ng/ml). Brand rotation (n=5, 50%) and cost (n=3, 30%) were the most common criteria for deciding the formulation of GH prescribed. We recommend that departments review their child measurement technique and equipment. We also advise the establishment of national guidelines for the use of GH, and a prospective registry for GH treated children.

4.
Acta Paediatr ; 105(2): 178-82, 2016 Feb.
Article in English | MEDLINE | ID: mdl-26317177

ABSTRACT

AIM: To determine the accuracy of current methods of heart rate (HR) assessment. METHODS: All participants palpated a simulated pulsating umbilicus (UMB), listened to a tapping rate (TAP) and auscultated a simulated HR (AUSC). A simulated HR of 54, 88 and 128 beats per minute (bpm) was randomised for all methods. RESULTS: Twenty-nine healthcare staff participated in this study. Correct assessment of HR of 54 bpm as being within the 0-59 range occurred in 17.2% UMB, 17.2% TAP and 31% AUSC and was obtained in <10 seconds by 48.3%, 65.5% and 62.1%, respectively. A rate of 88 bpm was correctly assessed as within the 60-100 range in 82.8% UMB, 79.3% TAP and 79.3% AUSC and was obtained in <10 seconds by 55.2%, 58.6% and 55.2%, respectively. A rate of 128 bpm was identified as >100 bpm by 96.6% UMB, 93.1% TAP, and 93.1% AUSC and was obtained in <10 seconds by 51.7%, 55.2% and 62.1%, respectively. CONCLUSION: Current methods in assessing rates below 60 bpm are inaccurate and may overestimate HR. We recommend that these methods alone should not be relied upon in neonatal resuscitation and objective assessment of heart rate should be readily available at all newborn resuscitations.


Subject(s)
Heart Auscultation , Heart Rate , Palpation , Humans , Infant, Newborn , Resuscitation
5.
J Clin Endocrinol Metab ; 100(11): 4357-63, 2015 Nov.
Article in English | MEDLINE | ID: mdl-26418286

ABSTRACT

CONTEXT: GH stimulation testing is limited by poor specificity and reproducibility in identifying GH deficiency. Intravenous line placement (IVP) in pediatrics may be a stimulus for GH secretion. OBJECTIVE: The objective of the study was to determine whether the measurement of GH at baseline as well as 15 and 30 minutes after IVP detects additional patients with sufficient peak GH concentrations who are not identified by a subsequent insulin tolerance test (ITT). METHODS: The ITT protocol was modified to include GH measurement at the time of IVP (t = 0) and 15 (t = 15) and 30 (t = 30) minutes later. Insulin was administered at t = 30, and an ITT was performed as per standard protocols. Children were grouped according to the indication for ITT: initial evaluation of GH deficiency (group 1); and GH deficiency at transition to adulthood (group 2). RESULTS: Ninety-seven patients were included (76 in group 1, 21 in group 2). Of these, 27 (28%) had a peak GH concentration of 7 ng/mL or greater (19 in group 1, eight in group 2) either after IVP or ITT. Thirteen subjects (11 in group 1, two in group 2) had GH concentrations of 7 ng/mL or greater after IVP, without exceeding this on a subsequent ITT. Among the 11 group 1 patients, three of these GH peaks of 7 ng/mL or greater occurred at t = 0, 5 at t = 15, and 5 at t = 30, including one patient who had a peak GH of 7 ng/mL or greater at all three time points. CONCLUSION: Some children will not have a sufficient GH response to pharmacological stimuli but will have a robust response to IVP. We recommend GH measurement after IVP in children undergoing GH stimulation testing, particularly when there is a delay between IVP and the administration of the pharmacological stimulus.


Subject(s)
Human Growth Hormone/blood , Human Growth Hormone/pharmacology , Adolescent , Age Determination by Skeleton , Catheterization , Child , Female , Glucose Tolerance Test , Human Growth Hormone/deficiency , Humans , Hydrocortisone/blood , Insulin/pharmacology , Male , Reproducibility of Results , Retrospective Studies
7.
Ir Med J ; 107(7): 204-7, 2014.
Article in English | MEDLINE | ID: mdl-25226714

ABSTRACT

The National Health Service in the UK has identified thirteen key standards of paediatric diabetes care. Funding depends on services meeting these standards. The aim of this study was to determine if these standards are applicable in an Irish setting. All patients attending the diabetes service during 2012 were included. Patient charts, electronic appointments, nursing notes and computerised results were used to ascertain relevant information for comparison with the NHS standards. Patients attended a mean 2.97 (SD 0.7) medical and 2.2 (SD 2.9) nursing appointments per year, with a median additional contacts of 8 nurse phone calls (range 0 - 125). Most standards were met by this service. In comparing our service to the NHS standard, we have identified a number of areas for improving our service provision. Limited resources and staff shortages make a number of these standards unachievable, namely annual dietetic review and three monthly outpatient appointments.


Subject(s)
Diabetes Mellitus, Type 1/economics , National Health Programs/economics , Adolescent , Appointments and Schedules , Child , Child, Preschool , Diabetes Mellitus, Type 1/epidemiology , Diabetes Mellitus, Type 1/therapy , Female , Humans , Infant , Ireland/epidemiology , Male , Pediatrics/economics , Retrospective Studies
8.
Ir Med J ; 107(5): 154-6, 2014 May.
Article in English | MEDLINE | ID: mdl-24908865

ABSTRACT

The aim of this study was to describe the adherence to recommended diabetes care during the Junior Certificate, and the utilisation of available allowances for children with type 1 diabetes. Questionnaires were sent within 3 months of the examination to all adolescents and their families attending our service completing the Junior Certificate in June of 2012. Fifteen of the 25 (60%) patients/parents completed the questionnaires. Five (33%) had higher than usual glucose readings during the examination period and three (20%) experienced hypoglycaemia during at least one exam. Nine (60%) never checked capillary glucose levels during the exams. No patients left the examination area to perform diabetes related tasks. Thirteen (86%) brought fast acting glucose into the examination centre while only six (40%) brought a glucometer. Just four (27%) patients availed of the rest breaks allowed and six (40%) felt that their diabetes affected their examination performance.


Subject(s)
Certification , Diabetes Mellitus, Type 1/drug therapy , Guideline Adherence , Hypoglycemia/prevention & control , Schools , Self Care , Adolescent , Blood Glucose Self-Monitoring , Female , Humans , Hypoglycemic Agents/therapeutic use , Ireland , Male , Medication Adherence , Self Care/methods , Surveys and Questionnaires
9.
Ir Med J ; 107(4): 102-4, 2014 Apr.
Article in English | MEDLINE | ID: mdl-24834580

ABSTRACT

The aim of this study was to describe the services provided for children with type 1 diabetes in the Republic of Ireland, and to identify a baseline from which services and outcomes might be improved. Lead clinicians in 17 of the 19 centres providing paediatric type 1 diabetes care responded to requests for information from 2012 regarding demographics, patient numbers, diagnostics, outpatient management, multidisciplinary team resources, comorbidity screening, transition policy, clinical guidelines, and use of insulin pumps. The total number of patients attending these centres was 2518. Eight centres initiate insulin pump therapy. Insulin pump usage ranged from 0 to 42% of patients attending each centre. Self reported clinic mean haemoglobin A1c ranged from 8.2 to 9.4% (66.1 to 79.2 mmol/mol). Variation existed in guideline availability, frequency of clinic appointments, age of transition and insulin types used. We recommend a national approach to standardising and improving care for these patients.


Subject(s)
Diabetes Mellitus, Type 1/epidemiology , Diabetes Mellitus, Type 1/therapy , Medical Audit , Adolescent , Child , Child, Preschool , Diabetes Mellitus, Type 1/blood , Humans , Infant , Insulin Infusion Systems , Ireland/epidemiology , Quality Assurance, Health Care
10.
Diabet Med ; 31(1): e1-5, 2014 Jan.
Article in English | MEDLINE | ID: mdl-23796040

ABSTRACT

BACKGROUND: Hepatocyte nuclear factor 4 alpha (HNF4A) gene mutations have a well-recognized role in maturity-onset diabetes of the young and have recently been described in congenital hyperinsulinism. A biphasic phenotype has been postulated, with macrosomia and congenital hyperinsulinism in infancy, and diabetes in young adulthood. In this case series, we report three children with HNF4A mutations (two de novo) and diazoxide-responsive congenital hyperinsulinism, highlighting the potential for ongoing diazoxide requirement and the importance of screening for these mutations even in the absence of family history. CASE REPORTS: All patients presented with macrosomia (mean birthweight 4.26 kg) and hyperinsulinaemic hypoglycaemia soon after birth (median age 1 day). All three (age range 7 months to 11 years 10 months) remain on diazoxide therapy, with dose requirements increasing in one patient. There was no prior family history of diabetes, neonatal hypoglycaemia or macrosomia. Parents were screened for HNF4A mutations post-diagnosis and one father was subsequently found to have maturity-onset diabetes of the young. CONCLUSIONS: This case series follows the evolving course of three patients with confirmed HNF4A-mediated congenital hyperinsulinism, highlighting (1) the variable natural history of these mutations, (2) the potential for prolonged diazoxide requirement, even into adolescence, and (3) the need for screening, regardless of family history.


Subject(s)
Antihypertensive Agents/therapeutic use , Congenital Hyperinsulinism/diagnosis , Diazoxide/therapeutic use , Hepatocyte Nuclear Factor 4/blood , Hypoglycemia/diagnosis , Age of Onset , Birth Weight , Blood Glucose/metabolism , Child , Child, Preschool , Congenital Hyperinsulinism/drug therapy , Congenital Hyperinsulinism/genetics , Diagnosis, Differential , Female , Fetal Macrosomia/metabolism , Hepatocyte Nuclear Factor 4/genetics , Humans , Hypoglycemia/drug therapy , Hypoglycemia/genetics , Infant , Male , Pedigree , Phenotype
11.
Ir Med J ; 106(5): 139-41, 2013 May.
Article in English | MEDLINE | ID: mdl-23914573

ABSTRACT

Over-The-Counter Analgesics (OTCA) account for over a fifth of Irish pharmacy sales. Little is known about patterns of use, specifically in children. This study investigated parents' use of OTCAs in children. A questionnaire exploring use of OTCAs and knowledge of side-effects was distributed to guardians of children attending three GP surgeries in South of Ireland from June-September 2010. The questionnaire was completed by 183 parents (response rate 95%). Many respondents (n = 121, 66.1%) were using analgesics when not required or using an inappropriate analgesic for a child's symptom. Private patients demonstrated better use (n = 31, 40%) than those with Medical Cards (n = 18, 22.5%) (p = 0.016). Identification of potential side-effects was poor, with drowsiness (n = 88, 49%), rash (n = 39, 22%) and nausea (n =3 2, 18%) listed as potential side-effects. Inappropriate use of OTCAs is prevalent in Irish children. Parents need more information and guidance on their use.


Subject(s)
Analgesics/therapeutic use , Nonprescription Drugs/therapeutic use , Parents , Adolescent , Adult , Chi-Square Distribution , Child , Cross-Sectional Studies , Female , Humans , Ireland , Male , Middle Aged , Surveys and Questionnaires
12.
Eur J Pediatr ; 172(10): 1393-9, 2013 Oct.
Article in English | MEDLINE | ID: mdl-23756915

ABSTRACT

Assessment of effective ventilation in neonatal mask ventilation can be difficult. This study aims to determine whether manual ventilation with a T-piece resuscitator containing an inline CO2 detector (either a Pedi-Cap® CO2 detector or a Neo-StatCO2

Subject(s)
Carbon Dioxide/analysis , Cardiopulmonary Resuscitation/instrumentation , Positive-Pressure Respiration/instrumentation , Respiration, Artificial/instrumentation , Cardiopulmonary Resuscitation/methods , Colorimetry , Cross-Over Studies , Humans , Infant , Infant, Newborn , Manikins , Masks , Positive-Pressure Respiration/methods , Video Recording
13.
Eur J Pediatr ; 172(9): 1255-7, 2013 Sep.
Article in English | MEDLINE | ID: mdl-23644647

ABSTRACT

We present a girl who initially presented at 12 weeks of age with antibody negative diabetes. Genetic screening for common mutations of monogenic diabetes was negative. She was noted to have short stature at 8 years of age (height <0.4 centile), as well as overlapping toes and distal abnormalities of her fingers. On reevaluation, further investigation revealed an EIF2AK3 mutation, and a diagnosis of Wolcott Rallison syndrome was made. This case highlights the importance of close follow up of patients with neonatal diabetes for the development of syndromic features that may lead to a unifying diagnosis.


Subject(s)
Delayed Diagnosis , Diabetes Mellitus, Type 1/diagnosis , Epiphyses/abnormalities , Osteochondrodysplasias/diagnosis , eIF-2 Kinase/genetics , Child , Diabetes Mellitus, Type 1/genetics , Female , Genetic Markers , Genetic Testing , Humans , Osteochondrodysplasias/genetics
14.
Eur J Pediatr ; 172(8): 1145-7, 2013 Aug.
Article in English | MEDLINE | ID: mdl-23052613

ABSTRACT

A term infant was noted to have right-sided foot drop. We discuss the role of neurophysiology and diagnostic imaging.


Subject(s)
Foot/innervation , Peroneal Neuropathies/congenital , Electromyography , Female , Humans , Infant, Newborn , Peroneal Neuropathies/diagnosis
15.
Acta Paediatr ; 100(4): 519-23, 2011 Apr.
Article in English | MEDLINE | ID: mdl-21070357

ABSTRACT

AIMS: To determine whether healthcare providers apply the best interest principle equally to different resuscitation decisions. METHODS: An anonymous questionnaire was distributed to consultants, trainees in neonatology, paediatrics, obstetrics and 4th medical students. It examined resuscitation scenarios of critically ill patients all needing immediate resuscitation. Outcomes were described including survival and potential long-term sequelae. Respondents were asked whether they would intubate, whether resuscitation was in the patients best interest, would they accept surrogate refusal to initiate resuscitation and in what order they would resuscitate. RESULTS: The response rate was 74%. The majority would wish resuscitation for all except the 80-year-old. It was in the best interest of the 2-month-old and the 7-year-old to be resuscitated compared to the remaining scenarios (p value <0.05 for each comparison). Approximately one quarter who believed it was in a patient best interests to be resuscitated would nonetheless accept the family refusing resuscitation. Medical students were statistically more likely to advocate resuscitation in each category. CONCLUSION: These results suggest resuscitation is not solely related to survival or long-term outcome and the best interest principle is applied differently, more so at the beginning of life.


Subject(s)
Decision Making , Mental Competency , Physician-Patient Relations , Practice Patterns, Physicians' , Resuscitation/standards , Adolescent , Adult , Age Factors , Aged, 80 and over , Attitude of Health Personnel , Child , Humans , Infant , Infant, Newborn , Infant, Premature , Ireland , Life Support Care , Middle Aged , Neonatology/standards , Obstetrics/standards , Pediatrics/standards , Students, Medical/psychology
16.
Ir Med J ; 104(10): 313-5, 2011.
Article in English | MEDLINE | ID: mdl-22256447

ABSTRACT

Fathers' knowledge base and attitudes influence breastfeeding practice. We aimed to evaluate if Irish fathers felt included in the breastfeeding education and decision process. 67 fathers completed questionnaires, which assessed their role in the decision to breastfeed, knowledge regarding the benefits of breastfeeding and attitude towards breastfeeding.Forty-two (62.7%) of their partners were breastfeeding. Antenatal classes were attended by 38 (56.7%); 59 (88.1%) discussed breastfeeding with their partners and 26 (38.8%) felt that the decision was made together. Twelve (48%) fathers of formula fed infants were unaware that breastfeeding was healthier for the baby. Most fathers (80.6%) felt that breastfeeding was the mother's decision and most (82.1%) felt that antenatal information was aimed at mothers only. Irish fathers remain relatively uninformed regarding the benefits of breastfeeding. This may contribute to their exclusion from the decision to breastfeed. Antenatal education should incorporate fathers more, and this may result in an improvement in our breastfeeding rates.


Subject(s)
Breast Feeding , Fathers , Health Knowledge, Attitudes, Practice , Infant Care/standards , Breast Feeding/psychology , Breast Feeding/statistics & numerical data , Decision Making , Education , Fathers/education , Fathers/psychology , Female , Humans , Infant Care/methods , Infant Care/psychology , Infant Formula/statistics & numerical data , Infant, Newborn , Interpersonal Relations , Male , Pregnancy , Prenatal Care/methods , Prenatal Care/standards , Surveys and Questionnaires
17.
Ir Med J ; 103(1): 17-9, 2010 Jan.
Article in English | MEDLINE | ID: mdl-20222388

ABSTRACT

Egg allergy is incorrectly considered to constitute a contraindication to MMR in the community, despite a long history of its safe administration to egg allergic children. The product insert perpetuates this misinformation but the Irish guidelines from the RCPI are unequivocal. We reviewed all paediatric cases vaccinated in our hospital in 2007-2008. Forty seven of 91 children receiving vaccinations in hospital, had been referred for MMR due to concerns regarding egg allergy. In 32% (n=15), GP referral for vaccination was made despite correspondence from the clinic advising routine vaccination in the community. Nineteen were second MMR immunisations, which should all have occurred in the community. Unnecessary hospital referral for MMR vaccination is an extra burden on hospital resources, and causes unwarranted anxiety amongst parents of children with egg allergy. A change in practice seems difficult to achieve, as many referrals happen despite individualised correspondence to GPs and other referring clinicians outlining the current guidelines.


Subject(s)
Eggs/adverse effects , Food Hypersensitivity/immunology , Hospitals , Measles-Mumps-Rubella Vaccine/immunology , Anaphylaxis/immunology , Child , Child, Preschool , Female , Humans , Immunization Programs , Immunization Schedule , Ireland , Male , Practice Guidelines as Topic , Prospective Studies , Referral and Consultation/statistics & numerical data
19.
Arch Dis Child Fetal Neonatal Ed ; 94(6): F461-3, 2009 Nov.
Article in English | MEDLINE | ID: mdl-19357121

ABSTRACT

OBJECTIVE: (1) To assess peak inspiratory pressure (PIP), positive end expiratory pressure (PEEP) and maximum pressure relief (P(max)) at different rates of gas flow, when the Neopuff had been set to function at 5 l/min. (2) To assess maximum PIP and PEEP at a flow rate of 10 l/min with a simulated air leak of 50%. DESIGN: 5 Neopuffs were set to a PIP of 20, PEEP of 5 and P(max) of 30 cm H(2)O at a gas flow of 5 l/min. PIP, PEEP and P(max) were recorded at flow rates of 10, 15 l/min and maximum flow. Maximum achievable pressures at 10 l/min gas flow, with a 50% air leak, were measured. RESULTS: At gas flow of 15 l/min, mean PEEP increased to 20 (95% CI 20 to 21), PIP to 28 (95% CI 28 to 29) and the P(max) to 40 cm H(2)O (95% CI 38 to 42). At maximum flow (85 l/min) a PEEP of 71 (95% CI 51 to 91) and PIP of 92 cm H(2)O (95% CI 69 to 115) were generated. At 10 l/min flow, with an air leak of 50%, the maximum PEEP and PIP were 21 (95% CI 19 to 23) and 69 cm H(2)O (95% CI 66 to 71). CONCLUSIONS: The maximum pressure relief valve is overridden by increasing the rate of gas flow and potentially harmful PIP and PEEP can be generated. Even in the presence of a 50% gas leak, more than adequate pressures can be provided at 10 l/min gas flow. We recommend the limitation of gas flow to a rate of 10 l/min as an added safety mechanism for this device.


Subject(s)
Respiration, Artificial/instrumentation , Equipment Design , Equipment Safety/methods , Humans , Infant , Manometry , Positive-Pressure Respiration/adverse effects , Positive-Pressure Respiration/instrumentation , Positive-Pressure Respiration/methods , Respiration, Artificial/adverse effects , Respiration, Artificial/methods
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