Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing
Stephen F. KingsmoreAudrey J. HendersonMallory OwenMichelle M. ClarkChristian Holm HansenDavid DimmockChristina ChambersLaura Jeliffe-PawlowskiCharlotte A. Hobbs
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Abstract Understanding causes of infant mortality shapes public health policy and prioritizes diseases for investments in surveillance, intervention and medical research. Rapid genomic sequencing has created a novel opportunity to decrease infant mortality associated with treatable genetic diseases. Herein, we sought to measure the contribution of genetic diseases to mortality among infants by secondary analysis of babies enrolled in two clinical studies and a systematic literature review. Among 312 infants who had been admitted to an ICU at Rady Children’s Hospital between November 2015 and September 2018 and received rapid genomic sequencing, 30 (10%) died in infancy. Ten (33%) of the infants who died were diagnosed with 11 genetic diseases. The San Diego Study of Outcomes in Mothers and Infants platform identified differences between in-hospital and out-of-hospital causes of infant death. Similarly, in six published studies, 195 (21%) of 918 infant deaths were associated with genetic diseases by genomic sequencing. In 195 infant deaths associated with genetic diseases, locus heterogeneity was 70%. Treatment guidelines existed for 70% of the genetic diseases diagnosed, suggesting that rapid genomic sequencing has substantial potential to decrease infant mortality among infants in ICUs. Further studies are needed in larger, comprehensive, unbiased patient sets to determine the generalizability of these findings.Cite
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Seperti pada dewasa, teknik regional anestesi pada pediatrik kini makin popular digunakan oleh ahli anestesikarena keuntungannya. Namun demikian selalu ada risiko dan kemungkinan timbulnya komplikasi dari setiap tindakan yang dilakukan, termasuk tindakan anestesi regional pada pediatrik. Insidensi komplikasi anestesi regional pada pediatrik tidak banyak, dan kalaupun terjadi komplikasi adalah minor. Komplikasi bisa diakibatkan dari identifikasi ruang saraf, alat, obat, teknis tindakan anestesi regionalnya dan komplikasi lainnya.Walaupun tidak banyak kejadian komplikasi regional anestesi yang dilaporkan pada pediatrik, dan bukanlah komplikasi yang fatal, teknik regional anestesi pada pediatrik harus dilakukan dengan lebih hatihati, pertimbangan risiko dan keuntungannya untuk menghindari terjadinya komplikasi, terlebih karena kebanyakan komplikasi dapat dihindari dengan mempelajari teknik yang benar, menggunakan peralatan yang sesuai, dan sangat menerapkan prinsip keamanan pada pasien dengan baik.
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Genentech is partnering with the German cancer company Affimed to develop immunotherapies for multiple kinds of solid and blood cancers. Affimed is developing therapies that engage natural killer cells of the innate immune system to help direct them to attack cancer cells. Genentech will pay Affimed $96 million up front and up to $5 billion more in potential payments.
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ABSTRACT Airway management is particularly difficult in children with severe congenital anomalies. Such patients are extre- mely sensitive to the respiratory depressant effects of anaesthetic agents. We describe the successful and safe app- lication of caudal anaesthesia for inguinal hernia repair in three cases with severe congenital anomalies (Joubert syndrome, I-cell syndrome). The three patients concerned had congenital anomalies including serious facial defor- mity, respiratory failure and cardiovascular defects. They were administered a single dose of caudal epidural anaest- hesia for inguinal hernia surgery in order to avoid complications associated with general anaesthesia. Caudal block was performed and 1 mL/kg levobupivacaine 0.25% administered. We conclude that caudal epidural anaesthesia can be an effective, suitable and safe anaesthetic technique for inguinal herniotomy without the need for general anaesthesia or endotracheal intubation in children with severe congenital anomalies. Key Words: Caudal anaesthesia, children, congenital anomaly OZET Havayolu yonetimi, ciddi konjenital anomalileri olan cocuklarda ozellikle zordur. Bu tur hastalar anestezik ilaclarin solunum depresan etkilerine karsi asiri derecede duyarlidir. Kaudal anestezinin inguinal herni onarimindaki basarili ve guvenli uygulamasi konjenital anomalileri (Joubert sendromu, I-cell hastaligi) olan uc olguda gosterilmistir. Ilgili uc cocuk hastada, ciddi yuz deformitesi, solunum yetmezligi ve kardiyovaskuler bozukluk dahil konjenital bozuk- luklar vardi. Genel anesteziyle iliskili komplikasyonlari onlemek icin inguinal herni cerrahisinde tek doz kaudal epi- dural anestezi uygulandi. Kaudal anestezide %0.25 levobupivakain 1 mL/kg kullanildi. Kaudal epidural anestezinin, ciddi konjenital bozukluklari olan cocuklarda inguinal herni onarimi acisindan genel anesteziye veya endotrakeal entubasyona gerek duyulmadan etkili, uygun ve guvenli bir alternatif anestezi teknigi olabilecegi sonucuna varildi. A na h ta r Sozcukler: Kaudal anestezi, cocuk, konjenital bozukluk
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