- Surgery for Dysphagia Lusoria in Children. [Journal Article]
- ATAnn Thorac Surg 2019 Jul 10
- Aberrant right subclavian artery, or arteria lusoria, is a common congenital anomaly of the aortic arch and may be associated with dysphagia. Surgical treatment, particularly in children, remains con…
Aberrant right subclavian artery, or arteria lusoria, is a common congenital anomaly of the aortic arch and may be associated with dysphagia. Surgical treatment, particularly in children, remains controversial. Current surgical interventions include supraclavicular and thoracotomy approaches as well as hybrid endovascular techniques. However, these techniques have significant limitations and varying degrees of success. Herein, we describe a two-site operation whereby the arteria lusoria is transected via a left thoracotomy and subsequently re-implanted into the right common carotid artery via a median sternotomy. This approach has provided complete symptom resolution for dysphagia lusoria in two children.
- Can cell-free DNA testing be used in pregnancies with increased nuchal translucency? [Journal Article]
- UOUltrasound Obstet Gynecol 2019 Jul 13
- CONCLUSIONS: cfDNA does not appear to be the appropriate genetic test in fetuses with a NT above the 99th centile, given that 12-19% of the genetic anomalies were undetectable with the current tests. Additionally, 6.6% of fetuses will have a major structural abnormality identifiable using first-trimester ultrasound. This article is protected by copyright. All rights reserved.
- Use of Tubular Retractors for Minimally Invasive Resection of Deep-Seated Cavernomas. [Journal Article]
- ONOper Neurosurg (Hagerstown) 2019 Jul 13
- CONCLUSIONS: Tubular retractors provide a low-profile, minimally invasive operative corridor for resection of subcortical cavernomas. There were no permanent neurologic complications in our series of 20 cases, and long-term seizure control was achieved in all patients. Thus, tubular retractors appear to be a safe and efficacious tool for resection of subcortical cavernomas.
- GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum. [Journal Article]
- AJAm J Med Genet A 2019 Jul 12
- The first human mutations in GATA6 were described in a cohort of patients with persistent truncus arteriosus, and the phenotypic spectrum has expanded since then. This study underscores the broad phe…
The first human mutations in GATA6 were described in a cohort of patients with persistent truncus arteriosus, and the phenotypic spectrum has expanded since then. This study underscores the broad phenotypic spectrum by presenting two patients with de novo GATA6 mutations, both exhibiting complex cardiac defects, pancreatic, and other abnormalities. Furthermore, we provided a detailed overview of all published human genetic variation in/near GATA6 published to date and the associated phenotypes (n = 78). We conclude that the most common phenotypes associated with a mutation in GATA6 were structural cardiac and pancreatic abnormalities, with a penetrance of 87 and 60%, respectively. Other common malformations were gallbladder agenesis, congenital diaphragmatic hernia, and neurocognitive abnormalities, mostly developmental delay. Fifty-eight percent of the mutations were de novo, and these patients more often had an anomaly of intracardiac connections, an anomaly of the great arteries, and hypothyroidism, compared with those with inherited mutations. Functional studies mostly support loss-of-function as the pathophysiological mechanism. In conclusion, GATA6 mutations give a wide range of phenotypic defects, most frequently malformations of the heart and pancreas. This highlights the importance of detailed clinical evaluation of identified carriers to evaluate their full phenotypic spectrum.
- Hypospadias Prevalence and Trends in International Birth Defect Surveillance Systems, 1980-2010. [Journal Article]
- EUEur Urol 2019 Jul 09
- CONCLUSIONS: The international total prevalence of hypospadias for all years was 20.9 (95% confidence interval: 19.2-22.6) per 10000 births. The prevalence for each program ranged from 2.1 to 39.1 per 10000 births. The international total prevalence increased 1.6 times during the study period, by 0.25 cases per 10000 births per year (p<0.05). When analyzed separately, there were increasing trends for first-, second-, and third-degree hypospadias during the early 1990s to mid-2000s. The majority of programs (61.9%) had a significantly increasing trend during many of the years evaluated. Limitations include known differences in data collection methods across programs.Although there have been changes in clinical practice and registry ascertainment over time in some countries, the consistency in the observed increasing trends across many programs and by degrees of severity suggests that the total prevalence of hypospadias may be increasing in many countries. This observation is contrary to some previous reports that suggested that the total prevalence of hypospadias was no longer increasing in recent decades.
- The Incidence of Sleep Disordered Breathing One Week After Primary Palatoplasty: Evaluation With Overnight Pulse Oximetry. [Journal Article]
- JCJ Craniofac Surg 2019; 30(5):1565-1567
- CONCLUSIONS: Approximately one-third of the patients may be at the risk of SDB 1 week after primary palatoplasty. Patients with history of laryngomalacia or those who required oxygen support for prolonged time after primary palatoplasty should be cared for significantly high risk of postoperative SDB.
- Atlantoaxial fixation for craniovertebral anomaly associated with absent posterior elements of the axial vertebra: report of 3 cases. [Case Reports]
- JNJ Neurosurg Spine 2019 Jul 12; :1-6
- This is a report of 3 relatively rare clinical cases in which the absence of posterior elements of the axis was associated with basilar invagination and multiple other craniovertebral junction muscul…
This is a report of 3 relatively rare clinical cases in which the absence of posterior elements of the axis was associated with basilar invagination and multiple other craniovertebral junction musculoskeletal and neural abnormalities. Atlantoaxial fixation resulted in remarkable clinical recovery in all 3 cases. C2-3 fixation was not done, and bone decompression was not done. On the basis of their experience, the authors conclude that atlantoaxial fixation is a satisfactory form of surgical treatment in patients having an association of basilar invagination with absent posterior elements of axis.
- Are precipitation concentration and intensity changing in Bangladesh overtimes? Analysis of the possible causes of changes in precipitation systems. [Journal Article]
- STSci Total Environ 2019 Jul 03; 690:370-387
- A comprehensive understanding of the changing behaviors of precipitation concentration and intensity plays a pivotal role in water resource management. Hence, we investigated the spatiotemporal chang…
A comprehensive understanding of the changing behaviors of precipitation concentration and intensity plays a pivotal role in water resource management. Hence, we investigated the spatiotemporal changing behaviors of frequency and intensity of 13 precipitation indices and their probable causes of changes in precipitation systems. This study used daily precipitation datasets from 23 sites in Bangladesh and six atmospheric circulation indices during 1975-2017. The results showed that the precipitation concentration index (LCI) varies between 0.57 and 0.63, and the highest value was found in the southeastern region. The precipitation days frequency indices such as AD, LPD, MPD, HPD, and WPD have significantly increased in Bangladesh while precipitation intensity indices such as AII, LPI, MPI, HPI, and WPI have significantly declined; all types of indices have clear rapid changes. The results of detrended fluctuation analysis (DFA) exhibit long-term correlations among all precipitation indices, suggesting that these indices will sustain their present trend line in the upcoming period. The Sunspot (SS) and East Asian Summer Monsoon Index (EASMI) had a negative influence on ACI and South Asian Summer Monsoon index (SASMI) had a strong positive influence on precipitation days frequency indices. The significance analysis using the random forest (RF) algorithm showed that SS is the largest contributing factor affecting the precipitation systems in Bangladesh. ECMWF ERA5 reanalysis datasets revealed that elevating summer geopotential height, higher anticyclonic anomaly, increasing low and decreasing high cloud covers and lower solar radiation with adequate moisture divergence fluxes contributed to variations in precipitation extremes in Bangladesh.
- Inter-annual isotopic niche segregation of wild humboldt penguins through years of different El Niño intensities. [Journal Article]
- MEMar Environ Res 2019 Jul 05; 150:104755
- The Humboldt Current System presents high interannual variability, influenced by the El Niño Southern Oscillation (ENSO), whose implications in wildlife are not fully understood. We studied the isoto…
The Humboldt Current System presents high interannual variability, influenced by the El Niño Southern Oscillation (ENSO), whose implications in wildlife are not fully understood. We studied the isotopic niche of wild Humboldt penguins at Punta San Juan (Peru) during the pre-moult foraging trip in 4 consecutive years (2008-2011) under known oceanographic (ENSO) conditions. Our results show that there is a clear isotopic niche segregation (on both δ13C and δ15N values) of wild Humboldt penguins among all years. Besides isotopic niche segregation, niche width also varied significantly among years. The larger isotopic niche displayed in 2008 reflected the opportunistic feeding behaviour of Humboldt penguins when oceanographic conditions were unfavourable (i.e. El Niño of strong intensity). In contrast, and despite strong segregation, penguins displayed a more specialist behaviour in years of mild environmental conditions (i.e. 2009 "warm-weak", 2010 "neutral" and 2011 "warm-moderate"). No evidence of sexual segregation in wild Humboldt penguins during the pre-moulting foraging trip was found. This study highlights the coping mechanisms of an endangered species to changes in environmental conditions (i.e. overall, from strong to neutral El Niño events), which should have important ramifications in the management of the marine ecosystem in Peru, particularly the one related to the anchovy industry.
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- SOX3 duplication: a genetic cause to investigate in fetuses with neural tube defects. [Journal Article]
- PDPrenat Diagn 2019 Jul 12
- CONCLUSIONS: Our data demonstrate that SOX3 duplication is a genomic imbalance involved in the pathogenesis of NTDs. In addition, our survey highlights the importance of CMA testing in fetuses with NTDs to enable genetic counselling upstream of any considerations of in utero fetal surgery.