Anesthesia for a cesarean section on a pregnant patient with Cockayne syndrome: case report
We report the case of a pregnant patient diagnosed with Cockayne Syndrome, submitted successfully to spinal anesthesia for a cesarean section due to cephalopelvic disproportion. In view of the difficult decision between inducing general anesthesia in a patient with a likely difficult airway, or neuraxial anesthesia in a patient with cardiovascular, respiratory and neurocognitive limitations, we suggest tailored management to reach the best results for the mother and newborn.ResumoA síndrome de Cockayne é doença multissistêmica autossômica recessiva devido à falha no reparo do DNA. Originalmente descrita em 1936 em crianças de baixa estatura, atrofia retiniana e surdez, é caracterizada por nanismo, caquexia, fotossensibilidade, envelhecimento acelerado e déficits neurológicos. O mais típico é a fácies descrita como similar à de um pássaro: maxila proeminente, atrofia do coxim adiposo bucal, olhos profundos, orelhas grandes e nariz fino. Tem sido descrita dificuldade no manejo da via aérea com estreitamento subglótico e risco de aspiração gástrica. Embora as características clínicas da síndrome de Cockayne sejam bem relatadas em publicações pediátricas, há apenas um relato de anestesia em paciente obstétrica na literatura. Relatamos o caso de gestante com diagnóstico de sín...
We report the case of a pregnant patient diagnosed with Cockayne syndrome, submitted successfully to spinal anesthesia for a cesarean section due to cephalopelvic disproportion. In view of the difficult decision between inducing general anesthesia in a patient with a likely difficult airway, or neuraxial anesthesia in a patient with cardiovascular, respiratory and neurocognitive limitations, we suggest tailored management to reach the best results for the mother and newborn. PMID: 32173062 [PubMed - as supplied by publisher]
CONCLUSIONS: WES is a new and effective technique for detecting pathogenic variants in monogenic diseases and it is preferable to use such a technique in diseases with genetic heterogeneity especially when time does not allow another time-consuming diagnostic technique such classical Sanger sequencing. WES offers possibility to expand the global spectrum of OI pathogenic variants enabling the diagnosis of the disease. PMID: 32165296 [PubMed - as supplied by publisher]
ConclusionsFindings from this 2019 study indicate that deaf or hard of hearing women are at a heightened risk for chronic conditions, pregnancy-related complications, and adverse birth outcomes and underscore the need for systematic investigation of the pregnancy- and neonatal-related risks, complications, costs, mechanisms, and outcomes of deaf or hard of hearing women.
CONCLUSIONS: Long-term follow-up is needed to detect delayed hearing impairment and auditory development in children. The need for long-term follow-up should be taken into account when designing an intervention strategy. Furthermore, the use of the deafness gene chip should further elucidate the etiology of neonatal hearing impairment. PMID: 31912317 [PubMed - as supplied by publisher]
Jeffrey Jordan/ President of the Population Reference Bureau with ICPD25 participants. Credit: Joyce Chimbi / IPSBy Joyce ChimbiNAIROBI, Kenya, Nov 13 2019 (IPS) One in five women globally lives with a disability even as they have same needs and interests as women without disabilities, their access to sexual and reproductive health services and rights remains severely limited. Delegates representing people living with disabilities at the ICPD25 Conference painted a grim picture of barriers and challenges they face. “We are perceived to be asexual and therefore offering us reproductive health information is consider...
We report experiments conducted in Cuenca, Ecuador, between 2017 and 2018 with 98 volunteers from low- and middle-income settings, aiming to evaluate the quality and appeal of the contents, the coherence of the methodology followed to create them, and the effectiveness of the content recommendations. The positive results encourage the frequent creation of new content and the refinement of the recommendation logic as the cohort of users expands over time.
[Ghanaian Times] The Executive Director of the Ghana National Association of the Deaf (GNAD), Mr Juventus Duorinaah has called for an increase in awareness about sexual and reproductive health among the hearing impaired.
Eight-year-old Naomi struggles with balance after her mum passed on CMV during pregnancy.
This report intends to aware clinicians regarding predisposition of children with CRS for developing diabetes, as timely diagnosing and instituting insulin therapy will help in avoiding complications and improving their quality of life.
Kate Llewellyn-Waters, from London, was diagnosed with otosclerosis, which causes the three tiny bones inside the ear to fuse together and can be sped up by pregnancy.
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