Alpha fetoprotein, Atrial septal defect, AV canal defects, Babies with Down Syndrome, Beta-human chorionic gonadotropin, Delivering the diagnosis of Down Syndrome, Dimeric inhibin A, Down Syndrome Education International, Down Syndrome Federation of India, Fetal echocardiography, John Langdon Down, Level 2 ultrasonography, Mongoloid, National Down Syndrome Society, Patent ductus arteriosus, Penta screen, Prenatal counseling, Trisomy 21, Unconjugated estriol, Ventricular septal defect
DOI: 10.5005/jp-journals-11002-0082 |
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Garg A. In a Spot to Break that News? Delivering a Diagnosis of Down Syndrome to an Unaware Family. 2023; 2 (4):245-248.
This communication presents the views of a cardiologist mother who is raising a child with Down Syndrome/Trisomy 21. She has described her initial emotional struggles and then the subsequent journey, which has required her best efforts to support the child. In this article, she has focused on how medical professionals can make an impact by interacting with families in a positive, encouraging way, and has listed resources that may be of help. She reminds us that there is considerable variability in the outcomes of these children, and hence, not to unnecessarily begin with a negative view of the prognosis. It is important for us to not give up; society must come together, and courageous efforts can help optimize the care for these children and families.
Congenital cytomegalovirus (cCMV) infection is the most common fetal viral infection and contributes to about 25% of childhood hearing loss by the age of 4 years. It is the leading nongenetic cause of sensorineural hearing loss (SNHL). Infants born to seroimmune mothers are not completely protected from SNHL, although the severity of their hearing loss may be milder than that seen in those whose mothers had a primary infection. Both direct cytopathic effects and localized inflammatory responses contribute to the pathogenesis of cytomegalovirus (CMV)-induced hearing loss. Hearing loss may be delayed onset, progressive or fluctuating in nature, and therefore, a significant proportion will be missed by universal newborn hearing screening (NHS) and warrants close monitoring of hearing function at least until 5–6 years of age. A multidisciplinary approach is required for the management of hearing loss. These children may need assistive hearing devices or cochlear implantation depending on the severity of their hearing loss. In addition, early intervention services such as speech or occupational therapy could help better communication, language, and social skill outcomes. Preventive measures to decrease intrauterine CMV transmission that have been evaluated include personal protective measures, passive immunoprophylaxis and valacyclovir treatment during pregnancy in mothers with primary CMV infection. Several vaccine candidates are currently in testing and one candidate vaccine in phase 3 trials. Until a CMV vaccine becomes available, behavioral and educational interventions may be the most effective strategy to prevent maternal CMV infection.
Mohammad Mozibur Rahman,
Organic acidemias (OAs) are heritable genomic abnormalities characterized by the absence or defects in critical enzyme(s), which result in the accumulation of abnormal and toxic organic acid metabolites. These metabolites can be detected in blood and/or urine in high levels. Organic acidemias can have severe clinical manifestations, where most patients become symptomatic within the neonatal period or early infancy. Mildly affected cases may present later during adolescence or adulthood following decompensation during illness, following surgery, or with prolonged fasting. Acute clinical presentations include liver failure, lethargy, altered sensorium (encephalopathy), and/or seizures in the acute phase; subacute/delayed manifestations may include failure to thrive, developmental delay, and/or cardiomyopathy. In neonates, differential diagnoses include sepsis, metabolic disturbances, and intracranial bleeding. A high index of suspicion is essential for early, timely diagnosis. This article seeks to provide consolidated information on OAs, including pathogenesis, clinical presentation, diagnosis, and contemporary management.
Background: Cerebral Doppler ultrasound is an emerging bedside tool to measure cerebral perfusion in premature and critically ill neonates. The review focused on maturation and disease-associated Doppler spectra in neonates for diagnostic and prognostic relevance and to identify relevant research areas.
Methods: A comprehensive literature search was conducted to review cerebral Doppler parameters noted in specific disease states. Further efforts were focused to understand the clinical relevance of these indices in the management of neonates and to predict their long-term neurodevelopmental outcomes.
Results: The review focused on routinely used cerebral Doppler parameters in normal and diseased states. Resistive index (RI) in the anterior cerebral artery (ACA) is a frequently used parameter in infants with primary brain injury and in preterm neonates with hemodynamically significant patent ductus arteriosus (HsPDA).
Conclusion: Despite extensive use, major gaps remain in our understanding of cerebral Doppler parameters for diagnosis, monitoring, and prediction of neurodevelopmental outcomes in neonates. Further studies are needed to decode these data in a more precise manner.
The use of lung ultrasound in neonatal intensive care units has greatly increased in recent years. Multicentric studies and meta-analyses have shown ultrasound as a tool with good sensitivity and specificity in the diagnosis of severe neonatal and childhood pneumonia. However, we still lack a standardized scoring system for neonatal pneumonia. In this paper, we propose a 5-grade lung ultrasound score (LUS) for increasing the severity of pneumonia, which indicates its progression and onset of associated complications. This bedside score using lung ultrasound will help in early detection, assessment of severity, and the need for timely administration of antibiotics.
Bacteriophages, viruses that invade bacterial cells, are the most abundant organisms in the biosphere. Phages include viruses with double-stranded DNA (most common), single-stranded DNA, single-stranded RNA, and double-stranded RNA (least common). Most virions (96%) are tailed; other types are cubic, filamentous, or pleomorphic. Phage genomes are diverse and pervasively mosaic owing to a high frequency of horizontal genetic exchange and recombinations. Phages may have lytic or lysogenic life cycles. They attach to specific bacteria and achieve killing by enzymes endolysins and holins, without affecting the commensal microflora because of host specificity. There is a constant “evolutionary arms race” which leads to competitive bacteria phage coevolution. Numerous diverse and sophisticated bacterial defense mechanisms are being developed to inhibit various stages of the phage life cycle. At the same time, phages have also evolved to overcome these bacterial defenses. Phage-based treatments are being developed where single phages, phage cocktails, phage-derived enzymes, phages in combination with antibiotics, and genetically modified phages might be useful. This can be useful in the treatment of infection with multidrug resistant (MDR) pathogens and also for biofilm removal.
Sarah M Tweddell,
Timothy M Bahr,
Robin K Ohls,
Robert D Christensen
Abruption, Acidosis, Artery vs vein, Hemoglobin, High-risk delivery, Umbilical
DOI: 10.5005/jp-journals-11002-0075 |
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Tweddell SM, Bahr TM, Ohls RK, Christensen RD. Evaluating Practice Consistency: Complying with the Directive to Obtain Umbilical Cord Arterial and Venous Blood Gasses, and Hemoglobin Values, at High-risk Deliveries. 2023; 2 (4):310-313.
Introduction: Using Intermountain Health multihospital data, we quantified compliance with the American College of Obstetricians and Gynecologists directive to obtain umbilical cord arterial and venous blood gasses at high-risk deliveries. We also quantified compliance with our local directive to obtain hemoglobin with the cord gasses as an early screen for anemia.
Methods: Retrospective 24-month analysis of Intermountain Health deliveries.
Results: One-thousand-fifty births had “placental abruption” mentioned in the peripartum notes. These constituted our high-risk delivery study cohort. Of these, 726 (69%) had both a cord arterial and venous sample reported; 707 (67%) also had hemoglobin reported. In 86 (8%) only one (arterial or venous) was reported, and 293 (23%) had neither gasses nor hemoglobin. One-hundred-seven of the 726 had acidosis (cord arterial pH <7.13) and 619 did not (pH ≥7.13). Among those with acidosis, 82 had abruption confirmed after birth; in 25 abruption was not confirmed. Paired umbilical arterial vs venous hemoglobin levels revealed the novel observation that umbilical venous hemoglobin is slightly lower than arterial (p < 0.0001), perhaps due to maternal-to-fetal acellular fluid transfer. Among the 707 that had cord hemoglobin reported, fetal/neonatal anemia was diagnosed in 83 (12%) (defined as hemoglobin below the fifth percentile lower reference interval for gestational age).
Conclusions: We see an opportunity to improve compliance with the directives to obtain cord arterial and venous blood gas and hemoglobin at high-risk births. Doing so will allow rapid evaluation of about 30% more high-risk infants for the presence of acidosis and anemia at birth.
The umbilical venous catheters (UVC) are frequently used in premature infants for intravenous access in the early postnatal period. The position of these catheters is typically verified by thoraco-abdominal radiographs, usually in the anterior-posterior view. In this case, we highlight the importance of obtaining a lateral image when a malposition is suspected.