scholarly journals A Nationwide Study of the Prevalence and Initial Management of Atypical Genitalia in the Newborn in Scotland

2021 ◽  
pp. 1-8
Author(s):  
Martina E. Rodie ◽  
Salma R. Ali ◽  
Arundathi Jayasena ◽  
Naser R. Alenazi ◽  
Martin McMillan ◽  
...  

Provision of optimum healthcare for infants with atypical genitalia requires a clear understanding of the occurrence of this condition. The objective of this study was to determine the prevalence of atypical genitalia and its initial management. A prospective, electronic survey of clinicians within managed clinical networks in Scotland was undertaken between 2013 and 2019. Notification from clinicians was sought for term neonates requiring specialist input for atypical genitalia. Additional information was also sought from the 4 regional genetics laboratories that provided details for neonates who had an urgent karyotype performed for atypical genitalia or sex determination. In total, the study identified 171 term infants who required some investigation for atypical genitalia in the neonatal period, providing a birth prevalence of 1:1,881 term births. Of the 171 infants, 97 (57%) had specialist input over the first 3 months of life, providing a birth prevalence of 1:3,318 term births that received specialist input for atypical genitalia. A total of 92 of these 97 cases had complete 3-month follow-up data, 62 (67%) presented within 24 h of birth, and age at presentation ranged from birth to 28 days. Age at sex assignment ranged from birth to 14 days, and in 63 cases (68%), sex assignment occurred at birth. Thus, the birth prevalence of a case of atypical genitalia where sex assignment was reported to be delayed beyond birth was estimated at 1:11,097 births. In 1 case sex was re-assigned at 3 months. Atypical genitalia requiring specialist input within the first month of life are rare in term newborns, and in only a third of these cases, sex assignment is delayed beyond birth. This study provides new clinical benchmarks for comparing and improving the delivery of care in centres that manage these conditions.

Nutrients ◽  
2021 ◽  
Vol 13 (7) ◽  
pp. 2412
Author(s):  
Sonia González ◽  
Marta Selma-Royo ◽  
Silvia Arboleya ◽  
Cecilia Martínez-Costa ◽  
Gonzalo Solís ◽  
...  

The early life gut microbiota has been reported to be involved in neonatal weight gain and later infant growth. Therefore, this early microbiota may constitute a target for the promotion of healthy neonatal growth and development with potential consequences for later life. Unfortunately, we are still far from understanding the association between neonatal microbiota and weight gain and growth. In this context, we evaluated the relationship between early microbiota and weight in a cohort of full-term infants. The absolute levels of specific fecal microorganisms were determined in 88 vaginally delivered and 36 C-section-delivered full-term newborns at 1 month of age and their growth up to 12 months of age. We observed statistically significant associations between the levels of some early life gut microbes and infant weight gain during the first year of life. Classifying the infants into tertiles according to their Staphylococcus levels at 1 month of age allowed us to observe a significantly lower weight at 12 months of life in the C-section-delivered infants from the highest tertile. Univariate and multivariate models pointed out associations between the levels of some fecal microorganisms at 1 month of age and weight gain at 6 and 12 months. Interestingly, these associations were different in vaginally and C-section-delivered babies. A significant direct association between Staphylococcus and weight gain at 1 month of life was observed in vaginally delivered babies, whereas in C-section-delivered infants, lower Bacteroides levels at 1 month were associated with higher later weight gain (at 6 and 12 months). Our results indicate an association between the gut microbiota and weight gain in early life and highlight potential microbial predictors for later weight gain.


2014 ◽  
Vol 100 (1) ◽  
pp. 14-17 ◽  
Author(s):  
Syed Mohinuddin ◽  
Pankaj Sakhuja ◽  
Benjie Bermundo ◽  
Nandiran Ratnavel ◽  
Stephen Kempley ◽  
...  

Bilious vomiting in a neonate may be a sign of intestinal obstruction often resulting in transfer requests to surgical centres. The aim of this study was to assess the use of clinical findings at referral in predicting outcomes and to determine how often such patients have a time-critical surgical condition (eg, volvulus, where a delay in treatment is likely to compromise gut viability).Methods4-year data and outcomes of all term newborns aged ≤7 days with bilious vomiting transferred by a regional transfer service were analysed. Specificity, sensitivity, likelihood ratios, correlations, prior and posterior probability of clinical findings in predicting newborns with surgical diagnosis were calculated.ResultsOf 163 neonates with bilious vomiting, 75 (46%) had a surgical diagnosis and 23 (14.1%) had a time-critical surgical condition. The diagnosis of a surgical condition in neonates with bilious vomiting was significantly associated with abdominal distension (χ2=5.17, p=0.023), abdominal tenderness (χ2=5.90, p=0.015) and abnormal abdominal X-ray findings (χ2=5.68, p=0.017) but not with palpation findings of a soft as compared with a tense abdomen (χ2=3.21, p=0.073). Abnormal abdominal X-ray, abdominal distension and tenderness had 97%, 74% and 62% sensitivity, respectively, with regard to association with an underlying surgical diagnosis. Normal abdominal X-ray reduced the posterior probability of surgical diagnosis from 50% to 16%. Overall, clinical findings at referral did not differentiate between infants with or without surgical or time-critical condition.ConclusionsWe recommend that term neonates with bilious vomiting referred for transfer are prioritised as time critical.


PEDIATRICS ◽  
1995 ◽  
Vol 96 (4) ◽  
pp. 730-733 ◽  
Author(s):  
M. Jeffrey Maisels ◽  
Thomas B. Newman

Objective. To document the occurrence of classical kernicterus in full-term, otherwise healthy, breast-fed infants. Methods. We reviewed the files of 22 cases referred to us by attorneys throughout the United States during a period of 18 years, in which neonatal hyperbilirubinemia was alleged to be responsible for brain damage in apparently healthy, nonimmunized, full-term infants. To qualify for inclusion, these infants had to be born at 37 or more weeks' gestation, manifest the classic signs of acute bilirubin encephalopathy, and have the typical neurologic sequelae. Results. Six infants, born between 1979 and 1991, met the criteria for inclusion. Their peak recorded bilirubin levels occurred 4 to 10 days after birth and ranged from 39.0 to 49.7 mg/dL. All had one or more exchange transfusions. One infant had an elevated reticulocyte count (9%) but no other evidence of hemolysis. The other infants had no evidence of hemolysis, and no cause was found for the hyperbilirubinemia (other than breast-feeding). Conclusions. Although very rare, classic kernicterus can occur in apparently healthy, full-term, breast-fed newborns who do not have hemolytic disease or any other discernible cause for their jaundice. Such extreme elevations of bilirubin are rare, and we do not know how often infants with similar serum bilirubin levels escape harm. We also have no reliable method for identifying these infants early in the neonatal period. Closer follow-up after birth and discharge from the hospital might have prevented some of these outcomes, but rare, sporadic cases of kernicterus might not be preventable unless we adopt an approach to follow-up and surveillance of the newborn that is significantly more rigorous than has been practiced. The feasibility, risks, costs, and benefits of this type of intervention need to be determined.


2012 ◽  
Vol 52 (3) ◽  
pp. 145 ◽  
Author(s):  
Rizal Agus Tiansyah ◽  
Irawan Mangunatmadja ◽  
Aman Pulungan

Background Head growth and anterior fontanel (AP) closureare passive processes in response to brain growth. The growthof the brain and skull starts in the third week of intrauterinegestation. roth processes run simultaneously as a part of integralgrowth, along 'With increasing gestational age, until post􀀿birth.Measurement of head circumference (He) and AF in newbornsis done to determine if the brain and skull grew normally duringthe intrauterine period.Objectives To investigate the differences in He and AF sizebetween preterm and full􀀿term infants, and the relationshipbetween gestational age (GA) and birth weight (BW) to Heand AF size.Methods This was a descriptive analytic study on preterm andfull􀀿term newborns. Measurement of HC and AF was conductedin three phases: just after birth, 1x24 and 2x24 hours of age.Analysis of HC and AF size differences between preterm and fullterm subjects was performed, as well as analysis of the correlationbetween GA and BW to HC and AF size.Results Two hundred fifty newborns completed the study. Therewere 180 full􀀿term and 70 preterm subjects. Median HC in full􀀿term and preterm male subjects were 34 cm (range 31􀀿37 cm)and 31 cm (27􀀿34 cm), respectively. Median HC in full􀀿termand preterm female subjects were 33 cm (31􀀿36 cm) and 32 cm(27􀀿3S.S cm), respectively. Median AF in full􀀿term and pretermmale subjects were 2.17 cm (1.0SA.6 cm) and 2.22 cm (1.3SA.Scm), respectively, and in full􀀿term and preterm female subjectswere 2.02 cm (lA.1S cm) and 2.22 cm (0.7SA cm), respectively.The HC of preterms were significantly lower than the fullterms(P<O.OOl), however the AF size was not different between these2 groups of newborns (P =0 .28). Correlation test between GA andBW to HC size revealed a positive correlation (r=0.620, P<O.OO 1and r=0.801, P<O.OOl, respectively), but not to AF size (r=􀀿 0.06,p􀁀 0.279 and F- 0.049, P􀁀0.44, respectively).Concl usions We found that the HC size of pre terms wassignificantly lower than thefullterms, but no significant differences in AF size between the two groups. GA and BW were associatedwith HC size, but not associated to AF size. [paediatr lndones.2012;52:145-51].


2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Lile Zou ◽  
Huan Yu ◽  
Yuan He ◽  
Lijuan Luo ◽  
Wenbin Dong ◽  
...  

Abstract Inverse correlations between serum bilirubin level and obesity had been reported in adults. We aimed to investigate the associations between neonatal hyperbilirubinemia and childhood obesity. Data was obtained from the U.S. Collaborative Perinatal Project (CPP), a multicenter study from 1959 to 1976. Data of serum bilirubin in term newborns were used to observe the association with obesity at age of 7 years. Logistic regression models were performed to calculate adjusted odds ratios (aORs) for obesity. For children from the same mother sharing similar factors, Generalized Estimating Equation (GEE) model was used to correct for intracluster correlation. Relative to newborns with total serum bilirubin (TSB) < 3 mg/dl, there are lower risks for obesity in those with 3 mg/dl ≤ TSB < 6 mg/dl (aOR 0.91; 95%CI 0.81, 1.02), 6 mg/dl ≤ TSB < 9 mg/dl (aOR 0.88; 95%CI 0.78, 0.99), 9 mg/dl ≤ TSB<13 mg/dl (aOR 0.83; 95%CI 0.71, 0.98). By stratifying for subtypes of bilirubin, the inverse correlations only existed in exposure to unconjugated bilirubin. By using the GEE model correcting for intracluster correlations, the results are consistent. In summary, exposure to bilirubin up to 13 mg/dl is inversely associated with obesity at the age of 7 years in term infants.


Folia Medica ◽  
2014 ◽  
Vol 56 (2) ◽  
pp. 88-95 ◽  
Author(s):  
Ina E. Geneva ◽  
Maya B. Krasteva ◽  
Stefan S. Kostianev

Abstract OBJECTIVE: To explore the capacity of somatosensory evoked potentials (SEP) to assess maturation processes in the development of the nervous system, and the characteristics of SEP in healthy full-term infants and full-term newborns with perinatal asphyxia and their follow up until the age of 14 months. MATERIALS AND METHODS: SEP were studied in 21 healthy full-term infants and 38 full-term newborns with perinatal asphyxia. The children with asphyxia were studied longitudinally until they were 14 months old. To assess the SEP we measured the latency of the P15, N20 and P25 components, the amplitude ratio N20/ P25 and inter-peak intervals P15-N20 and N20-P25. RESULTS: The component that was most typically always found in the SEP recordings of both healthy infants and those with perinatal asphyxia was N20. The mean latency values of P15, N20 and P25 were higher in the children with perinatal asphyxia (p ⋋ 0.001). The SEP amplitude was highly variable (CoV% = 76.6%). The latencies became shorter with age in asphyxia patients aged 0 to 14 months, the shortening being the greatest in the first trimester, while they showed no statistically significant differences in infants aged 6 to 12 months. CONCLUSIONS: SEPs in the neonatal period differ considerably from those of adults and older children in the morphology and longer potential latency, which can be accounted for by the incomplete myelination of nerve fibers. The changes in SEP latency in patients with HIE stages I and II follow the same pattern found in healthy children - latency became shorter with increasing age, which was most pronounced in the first 3 months. SEP latency was found to be correlated with height and age. No differences were found in the latency of potentials between healthy infants and infants with brain hemorrhage. Recording SEP is a sensitive method to assess the CNS in children with perinatal asphyxia and to monitor the maturation of the somatosensory pathway.


2019 ◽  
Vol 19 (3) ◽  
pp. 2670-2678
Author(s):  
Esedra E Krüger ◽  
Alta AM Kritzinger ◽  
Lidia L Pottas

Background: Normative information on the breastfeeding of term newborns may guide clinicians in early identification of breastfeeding difficulties and oro-pharyngeal dysphagia (OPD), and may support optimal breastfeeding practices. Objective: To describe breastfeeding skills of term newborn infants in a South African hospital, a lower-middle-income setting, and investigate associations between infants’ feeding and other factors.Method: One breastfeeding session of each of the 71 healthy newborn full-term infants (mean chronological age=1.9 days; mean gestation=39.1 weeks) was evaluated using the Preterm Infant Breastfeeding Behavior Scale (PIBBS), suitable for use with term newborns.Results: All participants were exclusively breastfed. Thirteen participants (18%) were HIV-exposed. There was no significant difference in the findings of the PIBBS between HIV-exposed and unexposed participants. Most newborns had obvious rooting, latched deeply onto the nipple and some of the areola, had repeated long sucking bursts (mean length=16.82 sucks/burst), and swallowed repeatedly. Most participants were in either the drowsy or quiet-alert state, which are optimal behavioural states for breastfeeding. One to two-hourly on-demand feeds was significantly associated with mothers who had normal births and did not use galactogogues to promote lactation.Conclusion: Results may be used for early identification of OPD in newborns. The findings may be useful to primary care clinicians.Keywords: Full-term, newborn, breastfeeding, feeding skills, feeding characteristics, normative data.


CJEM ◽  
2020 ◽  
Vol 22 (2) ◽  
pp. 224-231
Author(s):  
Sachin V. Trivedi ◽  
Riley J. Hartmann ◽  
Justin N. Hall ◽  
Laila Nasser ◽  
Danielle Porplycia ◽  
...  

ABSTRACTObjectivesQuality improvement and patient safety (QIPS) competencies are increasingly important in emergency medicine (EM) and are now included in the CanMEDS framework. We conducted a survey aimed at determining the Canadian EM residents’ perspectives on the level of QIPS education and support available to them.MethodsAn electronic survey was distributed to all Canadian EM residents from the Royal College and Family Medicine training streams. The survey consisted of multiple-choice, Likert, and free-text entry questions aimed at understanding familiarity with QIPS, local opportunities for QIPS projects and mentorship, and the desire for further QIPS education and involvement.ResultsOf 535 EM residents, 189 (35.3%) completed the survey, representing all 17 medical schools; 77.2% of respondents were from the Royal College stream; 17.5% of respondents reported that QIPS methodologies were formally taught in their residency program; 54.7% of respondents reported being “somewhat” or “very” familiar with QIPS; 47.2% and 51.5% of respondents reported either “not knowing” or “not having readily available” opportunities for QIPS projects and QIPS mentorship, respectively; 66.9% of respondents indicated a desire for increased QIPS teaching; and 70.4% were interested in becoming involved with QIPS training and initiatives.ConclusionsMany Canadian EM residents perceive a lack of QIPS educational opportunities and support in their local setting. They are interested in receiving more QIPS education, as well as project and mentorship opportunities. Supporting residents with a robust QIPS educational and mentorship framework may build a cohort of providers who can enhance the local delivery of care.


2021 ◽  
Vol 100 (1) ◽  
pp. 23-29
Author(s):  
T.A. Mammadova ◽  

Objective of the research: to assess the value of new biomarkers – erythropoietin (EPO), nitric oxide (NO), calcium ion for the early diagnosis of necrotizing enterocolitis (NEC) in full-term newborns. Materials and methods: 100 full-term infants with NEC and 30 generally healthy infants (control group) were examined. In newborns of both groups in the first 2 weeks of life, plasma NO levels were determined by the colorimetric method (Caymans Nitrate/Nitrite Colorimetric Assay Kit) using an ELISYS UNO HUMAN; EPO – by Human Enzyme Immunoassay ELISA Kit, calcium ions – by a photometric test with BioScreen MS2000. Results: an increase in EPO levels and a decrease in Ca+2 level were revealed in patients depending on the NEC stage. In patients with stage I NEC, EPO and NO values increased by 54% and 46%, respectively, and the Ca+2 values were decreased by 19% in comparison with indicators in children of the control group. In patients with stage II NEC, EPO values increased by 70%, NO – by 124%, and Ca+2 were decreased by 61% compared to the indicators of children in the control group. In patients with stage III NEC, EPO values increased by 100%, NO – by 222% compared with the indicators of children in the control group. Conclusion: EPO, NO, and Ca+2 are biomarkers of early diagnosis of NEC in term infants and detection of severe variants of the disease.


PEDIATRICS ◽  
1985 ◽  
Vol 76 (6) ◽  
pp. 958-964 ◽  
Author(s):  
J. W. Cole ◽  
R. J. Portman ◽  
Y. Lim ◽  
J. M. Perlman ◽  
A. M. Robson

Urinary concentrations of β2-microglobulin (β2M) and creatinine were measured in normal term infants and in those born with meconium-stained amniotic fluid. None of the infants or their mothers had conditions known to modify β2M excretion. Measurements of β2M were made on urines collected by bagging; urines obtained from diapers were not satisfactory. Urinary β2M concentrations increased significantly (P &lt; .02) in the normal infants from the first day (0.36 ± 0.29 mg/L: n = 29) to the third day (0.60 ± 0.43 mg/L: n = 21) postpartum. Compared with the normal infants, values for the infants with meconium-stained amniotic fluid were increased significantly on days 1 (1.64 ± 2.16 mg/L: n = 25: P &lt; .005) and 3 (2.12 ± 2.04 mg/L: n = 23: P &lt; .005). Levels exceeded two standard deviations above the normal mean in 12 of the 26 infants with meconium-stained amniotic fluid on postpartum day 1, and 12 of the 23 infants with meconium-stained amniotic fluid on day 3. Urinary creatinine levels were similar in both the normal infants and those with meconium-stained amniotic fluid. All infants with meconium-stained amniotic fluid with a one-minute Apgar score of 6 or less had an elevated urinary β2M concentration. The elevated levels of urinary β2M in infants with meconium-stained amniotic fluid indicate the existence of tubular dysfunction, probably mild acute tubular necrosis secondary to hypoxia.


Sign in / Sign up

Export Citation Format

Share Document