AimThe purpose of this work was to evaluate the use of AGP as a screening test for paediatric patients referred with suspected inflammatory bowel disease, when compared to routine markers such as ...C-Reactive Protein (CRP), erythrocyte sedimentation rate (ESR) and faecal calprotectin (FC).MethodA retrospective study evaluated all patients under 18 years of age whose AGP was measured from September 2014 to September 2015; analysing laboratory investigations that were simultaneously performed and reviewing medical notes for presenting complaint and diagnosis.ResultsA total of 58 tests were performed over 12 months. Fourteen results were excluded due to inadequate clinical information, making a total of 44 AGP levels in a patient population of 39 children (average age 12.3 years, male 46%).Abdominal pain was the presenting complaint in over fifty percent of all children tested. Of these, seven children consequently or had already been diagnosed with IBD, giving a prevalence of 18% in this patient population.A total of 16 positive AGP were identified (reference range normal ≤1.1g/L) with a range 0.07–3.28g/L and median 0.9g/L.In the diagnosis of IBD, the sensitivity for AGP was 72.7% and specificity 75.8%. Positive predictive value was only 50%, however when focusing on a higher reference range of AGP >2.0g/L, this improved to 77.8%.Abstract G39(P) Table 1Statistical comparison of IBD investigationsInvestigationSensitivitySpecificityPositive Predictive ValueNegative Predictive ValueAlpha-1-Glycoprotein >1.1 g/L72.7%75.8%50%89%Alpha-1-Glycoprotein >2g/L70%94%78.7%91.4%Erythrocyte Sedimentation Rate72.7%68.2%53.3%83.3%Faecal Calprotectin100%33%66.7%100%C-Reactive Protein72.7%89%72%89%AGP when used in combination with 2 other positive markers (i.e. ESR/CRP/FCP) improved specificity, sensitivity and positive predictive value to 70%, 94% and 91.3% respectively.ConclusionAbdominal pain is a common paediatric presentation, with IBD being one of several differential diagnoses. Almost two thirds of the patient’s tested had negative AGP levels, with no evidence of inflammatory bowel disease in over 80%. As a general paediatrician or gastroenterologist, the measurement of AGP is a useful investigation in the screening and diagnosis of paediatric inflammatory bowel disease. AGP >2.0g/L has a higher specificity and positive predictive value than CRP, ESR and faecal calprotectin. The diagnostic value of AGP is significantly improved when used in conjunction with other inflammatory markers and can be used to guide clinicians on who and when to refer to endoscopy.
Resistance to Thyroid Hormone (RTH) describes the condition of reduced receptor responsiveness to thyroid hormone in the presence of its sufficient production. Since the term was first used in 1967, ...over 3000 cases have been discovered, the majority of whom have a mutation in the Thyroid Hormone Receptor β (THRβ) gene. More recently, the term ‘Impaired Sensitivity to Thyroid Hormone’ has been proposed to encompass the various genetic causes and clinical presentations of this condition.In this report, a case series of a mother and her two children is described, of a familial mutation causing RTH. The condition was first diagnosed in the mother, being then without children, following markedly elevated thyroid hormone levels on a screening test for menstrual irregularity. Genetic sequencing revealed that she was heterozygous for a mutation Cys446Arg in the THRβ gene. Because of this finding, the woman’s two children were screened for thyroid dysfunction in early infancy.Both children were born at term, with birth weights around 9th centile, and were seen post-natally for thyroid function tests. The first child, a boy now aged three years, had on day ten of life a free T4 level of 51.7 pmol/L and Thyroid Stimulating Hormone (TSH) level of 8.4 miu/L. The second child, a girl now aged three months, had on day twelve of life a free T4 level of 71.7 pmol/L and TSH 6.5 miu/L. Both children had normal thyroid peroxidase antibody levels.Neither child has raised concerns regarding growth velocity on regular outpatient review. The first child was referred for Speech and Language Therapy assistance at two years of age for concerns regarding vocabulary and pronounciation. He was discharged after one year. Apart from this input, no further developmental concerns have been raised.This case report emphasises the need for a high degree of suspicion when faced with elevated T4 without suppression of TSH in the context of a family history of thyroid disease.
OBJECTIVE:Noninvasive prenatal testing (NIPT) sometimes fails to provide a test result, usually as a result of low cell-free DNA fetal fraction. We investigated how initial fetal fraction, maternal ...weight, gestational age, and time between blood sampling contribute to obtaining an informative result when a redraw is performed.
METHODS:We performed a retrospective data review of NIPT samples received between January and October 2016 by a commercial laboratory, where the initial blood draw did not yield a result and a second sample was drawn between 5 and 28 days after the initial sampling. We included cases with fetal fraction less than 2.8% (the threshold for “no result” in this laboratory) and those with higher fetal fraction but where the NIPT results could not be interpreted with high confidence.
RESULTS:For 4,018 cases in which a redraw was recommended, a result was obtained for the second sample in 2,835 cases (70.6%) (95% CI 69.1–72.0%). For the 2,959 cases with insufficient fetal fraction, there was a result for the second sample in 1,861 cases (62.9%) (95% CI 61.1–64.6%). For this subset, the average increase in fetal fraction was 1.2% with an average interval between draws of 14 days. Informative redraw rate was strongly dependent on maternal weight and fetal fraction measured at the first draw. Gestational age was not an important determinant. Informative redraw rate increased rapidly over the first 8 days after the initial draw and more slowly thereafter.
CONCLUSION:Based on fetal fraction in the initial sample, maternal weight, and interval between blood draws, women can be provided with a personalized estimate of their likelihood of a result on redraw. This should aid in the counseling of women faced with the choice of reattempting NIPT, conventional screening, or an invasive diagnostic test.
Objective
To explore the separate effects of being ‘at risk’ of gestational diabetes mellitus (GDM) and screening for GDM, and of raised fasting plasma glucose (FPG) and clinical diagnosis of GDM, on ...the risk of late stillbirth.
Design
Prospective case–control study.
Setting
Forty‐one maternity units in the UK.
Population
Women who had a stillbirth ≥28 weeks of gestation (n = 291) and women with an ongoing pregnancy at the time of interview (n = 733).
Methods
Causal mediation analysis explored the joint effects of (i) ‘at risk’ of GDM and screening for GDM and (ii) raised FPG (≥5.6 mmol/l) and clinical diagnosis of GDM on the risks of late stillbirth. Adjusted odds ratios (aOR) were estimated by logistic regression adjusted for confounders identified by directed acyclic graphs.
Main outcome measures
Screening for GDM and FPG levels
Results
Women ‘at risk’ of GDM, but not screened, experienced 44% greater risk of late stillbirth than those not ‘at risk’ (aOR 1.44, 95% CI 1.01–2.06). Women ‘at risk’ of GDM who were screened experienced no such increase (aOR 0.98, 95% CI 0.70–1.36). Women with raised FPG not diagnosed with GDM experienced four‐fold greater risk of late stillbirth than women with normal FPG (aOR 4.22, 95% CI 1.04–17.02). Women with raised FPG who were diagnosed with GDM experienced no such increase (aOR 1.10, 95% CI 0.31–3.91).
Conclusions
Optimal screening and diagnosis of GDM mitigate the higher risks of late stillbirth in women ‘at risk’ of GDM and/or with raised FPG. Failure to diagnose GDM leaves women with raised FPG exposed to avoidable risk of late stillbirth.
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Risk of #stillbirth in gestational diabetes is mitigated by effective screening and diagnosis.
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Risk of #stillbirth in gestational diabetes is mitigated by effective screening and diagnosis.
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Figure skating requires power and stability for take-off and landing from multi-rotational jumps and various on-ice skills. Repetitive forces may cause overuse injuries distally making ...lumbopelvic-hip endurance, strength, and neuromuscular control imperative.
The purpose was to compare lumbopelvic-hip endurance and neuromuscular control in elite figure skaters between sex and limbs using common screening tests.
Cross-sectional study.
U.S. Olympic and Paralympic Training Center.
Forty elite figure skaters (23.2±4.3 years, 169.1±12.2 cm, 20F, 40R landing limb) performed the Y-balance test, single leg squat (SLS), single leg squat jump (SLSJ), and unilateral hip bridge endurance test.
Normalized reach difference (% of leg length) and composite scores (((Anterior + Posteromedial + Posterolateral)/Limb length x 3) x100) were calculated for Y-balance test. Skaters held the unilateral hip bridge until failure with a maximum allotted time of 120s. Participants performed 5 SLS and SLSJ, barefooted with the contralateral limb held behind them to mimic a landing position. Both tests were scored by the number of times the patella moved medially to the first ray (medial knee displacement (MKD)). MANOVA with post-hoc independent t-tests were performed between groups and sex. Paired t-tests were used to analyze limb differences.
Females had a larger composite Y-balance score (R:+10.8, p=.002; L:+10.5, p=.001) and hip bridge hold time (R:+26.4 sec, p=.004; L:+28.2 sec, p=.002) on both limbs compared to males. Males held the hip bridge longer on their landing limb. During the SLS and SLSJ, 6 skaters performed worse on their non-landing limb during the SLS, and 11 skaters had no MKD with either test.
Females performed better on the Y-balance and unilateral hip bridge tests. Increased MKD for some skaters in the SLS and SLSJ may indicate hip abductor weaknesses. Understanding proximal lumbopelvic-hip variables during take-off and landing may elucidate contributing factors to distal overuse injuries.
This study examined the agreement between the Ages & Stages Questionnaires, third edition (ASQ-3), and the Ages & Stages Questionnaires: Social-Emotional, second edition (ASQ:SE-2), and investigated ...the relationship of the overall indication of “parental concerns” about their child's behavior on the ASQ-3 and the results of the ASQ:SE-2. A large and U.S. representative sample of 16,739 birth to 6 years old children was used to calculate agreements (1) between the ASQ-3 and the ASQ:SE-2, as well as (2) between the indication of “parental concerns” about their child's behavior on the ASQ-3 and the results from the child's ASQ:SE-2. Findings indicated .80 agreement between “typical” classifications on the ASQ-3 and the ASQ:SE-2; as well as .57 agreement on the “at-risk” status. When parents indicated a “behavioral concern” about their child on the ASQ-3 overall questions, 74% of these children were identified by a subsequent ASQ:SE-2. High agreement on the “at-risk” status between developmental and social-emotional screening tests was found. High agreement between parental concerns about child's behavior and results of the social-emotional screening test was found. This finding adds to the foundations of research on the importance of parental input in the early identification processes and can inform efforts to increase the efficiency of the screening process.
Recent advances in technology have created exciting opportunities to expand and improve genetic testing options that are available to women during pregnancy. However, the novelty and complexity of ...these technologies, combined with the commercial interest to implement these tests rapidly into routine clinical care, have created challenges for physicians and patients and potentially will lead to misunderstanding, misuse, and unintended consequences. The purpose of this document was to aid clinicians in their day-to-day practice of counseling patients regarding prenatal aneuploidy testing options with cell-free DNA screening, which includes how it compares to current testing methods, potential benefits and harms, and its limitations and caveats.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
IntroductionThe 2007 NICE guidelines on urinary tract infection1 (UTI) in children advised not to investigate children over 6 months with a typical first UTI. Birmingham Children’s Hospital (BCH) ...have continued to do a urinary tract ultrasound (USS) after the first UTI in children of all ages.AimTo define how many children have an abnormal USS after a first UTI and whether this affects their managementTo see if urine samples were collected in a satisfactory mannerMethodsA retrospective audit was completed to assess the rate of abnormalities diagnosed on USS in those who presented with a first UTI. The patients were identified by searching all who had USS Urinary Tracts for the indication of first UTI between January 2013 and October 2014. The USS results along with any further imaging done, follow up, culture results and methods of culture collection were collected. Abnormalities were graded according to a system used by Nelson et al2 .Results151 patients had an USS after their first UTI. 32% of children had abnormal results; including 12 (8%) of children with the most serious abnormalities including moderate to severe hydronephrosis, renal scaring or atrophy. 36 (24%) had milder abnormalities including mild hydronephrosis and duplex kidneys. Of those with abnormalities 38% had some form of follow up imaging. Of the 12 patients with the most severe abnormalities, only 5 patients (3%) had active treatment including two who had antibiotics prophylaxis and three who had surgery.There was a pure growth of E.coli in 67% of patients, 7% of patients had a non-E.coli growth, the rest had none or mixed growth, or no sample was sent. Urine was collected in a satisfactory manner in 94% of cases, including clean catch, in out catheter or a mid stream specimen.ConclusionsThe practice of doing USS for the first UTI at BCH may be justified given the high incidence of urinary tract abnormalities found; however as only 3% of patients received active treatment this knowledge does not change management in the majority of patients.ReferencesNICE guideline CG54: Urinary tract infection in under 16s: diagnosis and management. Aug 2007Nelson et al. Ultrasound as a screening test for genitourinary anomalies in Children with UTI. Pediatrics. 2014;133 (3):e394–e403
BackgroundEarly detection and treatment of congenital hypothyroidism (CH) through newborn screening prevents neurocognitive disability and optimises developmental outcome. 85% of permanent cases of ...CH are due to thyroid dysgenesis and remaining is a result of dyshormonogenesis. The incidence of resistance to thyroid stimulating hormone (RTSH) is unknown. Mutations in Thyroid stimulating hormone (TSH) receptors are increasingly recognised as a cause of CH.Casereport We are reporting a case of CH secondary to RTSH. Congenital hypothyroidism was diagnosed through newborn screening test with raised thyroid stimulating hormone (TSH 10mU/l) confirmed by blood test (TSH 32mU/l, T4 12.5pmol/l). Thyroxine replacement therapy was commenced with regular adjustments based on clinical and laboratory follow up. His development remained normal and there were no signs or symptoms of hypothyroidism.However, at age of 3 years with further increase to thyroxine dose in response to persistent raised TSH, he was noted to have symptoms of thyroxine overtreatment (abnormal behaviour, hyperactivity, aggression and sleep disturbances). Of note the grandmother was diagnosed with hypothyroidism on replacement thyroxine treatment.Further evaluation for the aetiology of CH showed normal thyroid ultrasound scan excluding thyroid dysgenesis. A normal Isotope perchlorate discharge ruled out dyshormonogenesis. Genetic tests sequencing TSH receptor gene showed two heterozygous sequence changes in exon 10 of the gene.A nonsense mutation, c. 1465C >T, p.(Gln489Ter) which has not been previously reported but is highly likely to be pathogenic mutation (missense changes of this amino acid have been previously reported as causing hypothyroidism)A missense change, c.1748T >C, p.(Ile583Thr). This change has previously been described in association with mild hyperthyrotropinaemia.In summary, the impression was that he has partial compensated RTSH congenital hypothyroidism as it was noted that free T4 drops to lower end of normal range when not on treatment. Therefore, he was advised smaller dose of thyroxine to maintain T4 at normal ranges and accept higher TSH levels. But parents reported recurrence of symptoms of overtreatment. At present, he is not on thyroxine but under careful monitoring of thyroid function, growth and development.
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