Perinatal Arterial Stroke

Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry

This chapter reviews the incidence, risk factors, genetics, recurrence risk, and epidemiology of perinatal arterial stroke (PAS). This type of stroke is distinct from later stroke in the pediatric age group. This disorder is the most common cause of hemiplegic cerebral palsy and the frequency has remained stable despite advances in fetal monitoring and liberal use of cCesarean section. Fetal and maternal risk factors include post-dates, large and small fetal size, chorioamnionitis, and a prolonged second stage of labor. Neonatal seizures are the most common presenting sign in term newborns. The role of thrombophilic factors in causation is controversial. COL4A1 and COL4A2 variants may mimic PAS and testing for this cause should be considered. Follow up of PAS needs to be long term as neurologic and ophthalmologic sequelae can be delayed. The clinical case features a large for gestational age, macrocephalic infant with a perinatal arterial stroke.

Author(s):  
Salma Younes ◽  
Muthanna Samara ◽  
Rana Al-Jurf ◽  
Gheyath Nasrallah ◽  
Sawsan Al-Obaidly ◽  
...  

Preterm birth (PTB) and early term birth (ETB) are associated with high risks of perinatal mortality and morbidity. While extreme to very PTBs have been extensively studied, studies on infants born at later stages of pregnancy, particularly late PTBs and ETBs, are lacking. In this study, we aimed to assess the incidence, risk factors, and feto-maternal outcomes of PTB and ETB births in Qatar. We examined 15,865 singleton live births using 12-month retrospective registry data from the PEARL-Peristat Study. PTB and ETB incidence rates were 8.8% and 33.7%, respectively. PTB and ETB in-hospital mortality rates were 16.9% and 0.2%, respectively. Advanced maternal age, pre-gestational diabetes mellitus (PGDM), assisted pregnancies, and preterm history independently predicted both PTB and ETB, whereas chromosomal and congenital abnormalities were found to be independent predictors of PTB but not ETB. All groups of PTB and ETB were significantly associated with low birth weight (LBW), large for gestational age (LGA) births, caesarean delivery, and neonatal intensive care unit (NICU)/or death of neonate in labor room (LR)/operation theatre (OT). On the other hand, all or some groups of PTB were significantly associated with small for gestational age (SGA) births, Apgar <7 at 1 and 5 minutes and in-hospital mortality. The findings of this study may serve as a basis for taking better clinical decisions with accurate assessment of risk factors, complications, and predictions of PTB and ETB.


Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry

This chapter reviews the incidence, risk factors, genetics, recurrence risk, and epidemiology of arthrogryposis. The most common and clinically recognizable type among the congenital contractures is amyoplasia, and treatment options are improving the quality of life for these patients. The distal arthrogryposes are mostly autosomal dominant and caused by an increasing number of genes including variants in PIEZ02 and MYH3 among several others. The lethal contracture syndromes have an expanding number of causes many of which are autosomal recessive. The majority of these conditions are recognized on US. In viable syndromes the early and intensive use of physical therapy is critical and can result in significant joint mobilization. The clinical case presentation features an infant with lethal multiple pterygia syndrome.


2020 ◽  
Vol 9 (2) ◽  
pp. 121
Author(s):  
Uzma Firdaus ◽  
N Nandhagopal ◽  
SyedManazir Ali ◽  
Kamran Afzal

Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry

This chapter reviews the incidence, risk factors, genetics, recurrence risk, epidemiology, and distinctive anatomy of gastroschisis. This abnormality is much more common in the offspring of young mothers and the overall incidence continues to rise worldwide. Other risk factors include short intrapregnancy intervals, smoking and several medications such as aspirin and ibuprophen. Associated abnormalities most frequently include intestinal atresias and strictures although other vascular disruptive defects, particularly the amyoplasia form of arthrogryposis, are seen in 3-10%. Distinquishing this defect from omphalocele is usually not difficult although a ruptured omphalocele may cause confusion. Ruling out limb-body wall disruption is important as the prognosis is vastly different. The clinical case presentation features an infant with amyoplasia and gastroschisis.


Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry

This chapter reviews background information about the incidence, risk factors, genetics, family history, recurrence risk, and epidemiology of isolated and syndromic diaphragmatic hernia. The chapter reviews the typical multifactorial inheritance pattern of isolated sporadic diaphragmatic hernia and its low recurrence risk, which is distinct from more complex single gene disorders. The discussion on the differential diagnosis of diaphragmatic hernia summarizes other intrathoracic disorders that can give a similar radiographic appearance. The common genetic causes of diaphragmatic hernia are discussed including chromosome anomalies (aneuploidy, mosaic tetrasomy 12p, recurrent copy number variants), and Mendelian disorders that include malformations in other organ systems and overgrowth conditions. The chapter gives recommendations for evaluation and management. A clinical case presentation features a large for gestational age infant with diaphragmatic hernia and bitemporal alopecia caused by Pallister–Killian syndrome.


2020 ◽  
Vol 4 (1) ◽  
pp. e000741
Author(s):  
Erik Omling ◽  
Sanna Bergbrant ◽  
Andreas Persson ◽  
Jonas Björk ◽  
Lars Hagander

BackgroundEarly orchidopexy is recommended for cryptorchidism and the surgery is increasingly centralised. The objectives were to determine the incidence, risk factors and if distance to treating hospital impacted on timely treatment of cryptorchidism.MethodsIn this observational study, all boys born in Sweden from 2001 to 2014 were followed in national registers to determine the incidence of cryptorchidism by levels of birth-related risk factors and social determinants. Travel time to hospital was used as the primary exposure in multivariable survival analysis, with age at surgery as main outcome.ResultsOf 748 678 boys at risk for cryptorchidism, 7351 were treated and evaluated for timing of surgery (cumulative childhood incidence 1.4%, 95% CI 1.3% to 1.5%). The incidence was clearly associated with prematurity and overdue pregnancy (HR for <32 weeks 2.77 (95% CI 2.39 to 3.21); 32–36 weeks HR 1.36 (95% CI 1.24 to 1.49); >41 weeks HR 1.19 (95% CI 1.10 to 1.29)), low birth weight (<1000 g HR 3.94 (95% CI 3.15 to 4.92); 1000–1499 g HR 3.70 (95% CI 3.07 to 4.46); 1500–2500 g HR 1.69 (95% CI 1.52 to 1.88)) and intrauterine growth restriction (small for gestational age HR 2.38 (95% CI 2.14 to 2.65); large for gestational age HR 1.26 (95% CI 1.13 to 1.42)), but not with smoking or maternal age. Each 30 min increase in travel time was associated with a reduced probability of timely treatment (HR for being treated by age 3 adjusted for risk factors and socioeconomic determinants: 0.91 (95% CI 0.88 to 0.95)). Lower income and financial support were also associated with treatment delays (adjusted HR for lowest income quintile 0.82 (95% CI 0.72 to 0.93) and for families with financial support 0.85 (95% CI 0.73 to 0.97)).ConclusionsTravel distance to treating hospital was associated with delayed treatment. ‘Not all those who wander are lost’, but these findings suggest a trade-off between centralisation benefits and barriers of geography also in elective paediatric surgery.


Author(s):  
Fabricio González Andrade

Background: to determine the relationship and association of early sepsis with interleukin-6 measured in umbilical blood, as well as gestational age and birth weight, prenatal history of the mother pathologies during pregnancy, in full-term newborns at the Neonatology Service of Carlos Andrade Marín Hospital (Quito). Subjects and methods: epidemiological, observational, analytical, cross-sectional. 200 newborns were analyzed. IL-6 was determined by Elisa. Results: newborn mean gestational age 38.4±2 weeks, mean weight 2871±532.4 grams,  cutoff point interleukin 6 ≤14pg/uL; mean of IL6. 58±99,1 pg/uL; male sex was 43.9%, female sex 56.1%; preeclampsia of the mother 22.4%, prenatal infection of the urinary tract 20.4%; vaginitis/vaginosis 19.4%; IL6 values ≤ 14 pg/uL in 63.3% of patients; IL6 values of >14 pg/uL 36.7%; relationship with sepsis in all, p<0.05; relationship of prenatal pre-maternity of the mother and neonatal sepsis. p<0.05; relationship between vaginitis/vaginosis of the mother with neonatal sepsis; p<0.05; OR: 38.88 IC95% (4.912-307.728); association between sepsis and risk factors, IL6, gestational age in weeks, weight, prenatal preeclampsia, prenatal urinary tract infection, vaginitis/vaginosis, p<0.05. Conclusion: It is concluded that there is a relationship of risk factors, such as, gestational age in weeks, weight, prenatal preeclampsia, prenatal UTI, vaginitis/vaginosis and values of interleukin 6 ≤ 14 pg/uL. The mean gestational age was 38.4 weeks, and average weight 2871 grams in the newborns analyzed.


Metabolites ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 530
Author(s):  
Nancy McBride ◽  
Paul Yousefi ◽  
Ulla Sovio ◽  
Kurt Taylor ◽  
Yassaman Vafai ◽  
...  

Many women who experience gestational diabetes (GDM), gestational hypertension (GHT), pre-eclampsia (PE), have a spontaneous preterm birth (sPTB) or have an offspring born small/large for gestational age (SGA/LGA) do not meet the criteria for high-risk pregnancies based upon certain maternal risk factors. Tools that better predict these outcomes are needed to tailor antenatal care to risk. Recent studies have suggested that metabolomics may improve the prediction of these pregnancy-related disorders. These have largely been based on targeted platforms or focused on a single pregnancy outcome. The aim of this study was to assess the predictive ability of an untargeted platform of over 700 metabolites to predict the above pregnancy-related disorders in two cohorts. We used data collected from women in the Born in Bradford study (BiB; two sub-samples, n = 2000 and n = 1000) and the Pregnancy Outcome Prediction study (POPs; n = 827) to train, test and validate prediction models for GDM, PE, GHT, SGA, LGA and sPTB. We compared the predictive performance of three models: (1) risk factors (maternal age, pregnancy smoking, BMI, ethnicity and parity) (2) mass spectrometry (MS)-derived metabolites (n = 718 quantified metabolites, collected at 26–28 weeks’ gestation) and (3) combined risk factors and metabolites. We used BiB for the training and testing of the models and POPs for independent validation. In both cohorts, discrimination for GDM, PE, LGA and SGA improved with the addition of metabolites to the risk factor model. The models’ area under the curve (AUC) were similar for both cohorts, with good discrimination for GDM (AUC (95% CI) BiB 0.76 (0.71, 0.81) and POPs 0.76 (0.72, 0.81)) and LGA (BiB 0.86 (0.80, 0.91) and POPs 0.76 (0.60, 0.92)). Discrimination was improved for the combined models (compared to the risk factors models) for PE and SGA, with modest discrimination in both studies (PE-BiB 0.68 (0.58, 0.78) and POPs 0.66 (0.60, 0.71); SGA-BiB 0.68 (0.63, 0.74) and POPs 0.64 (0.59, 0.69)). Prediction for sPTB was poor in BiB and POPs for all models. In BiB, calibration for the combined models was good for GDM, LGA and SGA. Retained predictors include 4-hydroxyglutamate for GDM, LGA and PE and glycerol for GDM and PE. MS-derived metabolomics combined with maternal risk factors improves the prediction of GDM, PE, LGA and SGA, with good discrimination for GDM and LGA. Validation across two very different cohorts supports further investigation on whether the metabolites reflect novel causal paths to GDM and LGA.


Author(s):  
Robin D. Clark ◽  
Cynthia J. Curry

This chapter reviews background information about the incidence, risk factors, sex ratio, genetics, family history, recurrence risk, and epidemiology of the various types of isolated and syndromic Hirschsprung disease. Distinctions that characterize long segment, short segment, zonal, total colonic, and total intestinal aganglionosis are reviewed. The discussion on the differential diagnosis of Hirschsprung disease summarizes its common causes, including chromosome anomalies (Down syndrome and recurrent microdeletions), and Mendelian traits associated with isolated disease and syndromic aganglionosis with non-GI malformations. This chapter includes gives recommendations for evaluation and management. A clinical case presentation features an SGA microcephalic infant who failed to pass meconium with Goldberg–Shprintzen syndrome.


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