Non-isolated Group Research Articles

Epidemiologic trends of infants with orofacial clefts in a multiethnic country: a retrospective population-based study

Cleft births surveillance is essential in healthcare and prevention planning. Data are needed in precision medicine to target upstream management for at-risk individuals. This study characterizes Singapore’s population-based orofacial cleft topography by ethnicity and gender, and establishes the cleft cohort’s infant mortality rate. Data, in the decade 2003 to 2012, were extracted by the National Birth Defects Registry. Trend testing by linear regression was at p < 0.05 significance level. Prevalence per 10,000 for population-based cleft live births was 16.72 with no significant upward trend (p = 0.317). Prevalence rates were 8.77 in the isolated cleft group, 7.04 in the non-isolated cleft group, and 0.91 in the syndromic cleft group. There was significant upward trend in infants with non-isolated clefts (p = 0.0287). There were no significant upward trends in infants with isolated clefts and syndromic clefts. Prevalence rates were sexually dimorphic and ethnic-specific: male 17.72; female 15.78; Chinese group 17.17; Malay group 16.92; Indian group 10.74; and mixed ethnic origins group 21.73. The overall infant mortality rate (IMR) was 4.8% in the cohort of 608 cleft births, which was more than double the population-based IMR of 2.1% in the same period. Infants with non-isolated and syndromic clefts accounted for 96.6% of the deaths.

The relationship between isolated pes equinovarus and aneuploidies and perinatal outcomes: Results of a tertiary center.

Objective:Congenital pes equinovarus (PEV) is the most common congenital deformity of the foot, characterized by plantar flexion with a frequency of 0.2-0.3%. It can be diagnosed from the 12th week of pregnancy. Non-isolated cases tend to be syndromic and complex. We aimed to evaluate the results of perinatally diagnosed isolated PEV.Materials and Methods:This was a retrospective cohort study conducted between March 2015-March 2020. Women who presented for fetal anomaly screening or were referred due to any suspected fetal anomaly were subjected to detailed fetal anomaly scans and checked for the presence of PEV. Karyotype analysis was discussed for patients with PEV. Pregnancy termination was recommended for those with chromosomal/life-threatening anomalies. The diagnosis was confirmed by postnatal examination/autopsy. Postnatal diagnosis was accepted as false-positive in those with no PEV.Results:One-hundred thirty-eight patients were found to have PEV, 41 (29.7%) of which were isolated. In the isolated group, the false-positive rate in the first trimester was significantly higher compared with the second trimester, 50%/15.3%, respectively (p<0.05). Chromosomal anomalies were detected in 2 (4.8%) patients in the isolated group. Termination was performed to 1 (2.4%) patients due to trisomy 21. In the non-isolated group, chromosomal anomalies were detected in 13 (13.4%) patients, and termination was recommended. Termination was also recommended to 18 (18.5%) patients due to anomalies incompatible with life. In the postnatal evaluation, the surgical treatment rate in the isolated/non-isolated groups was 6%/39.7% (p<0.05).Conclusion:When PEV is diagnosed, detailed fetal anomaly screening must be performed, patients should be informed about the chromosomal anomaly risk. High false-positive rates in the first trimester should be kept in mind for diagnosis. Karyotype analysis should be recommended also to isolated cases. It should be remembered that some neuromuscular/skeletal system anomalies may occur for the first time in the postnatal period in isolated cases.

The associtation between aberrant right subclavian artery and trisomy 21 in a tertiary center in Turkey.

We hoped to reveal the frequency of Aberrant Right Subclavian Artery (ARSA) and to find the relationship of isolated/non-isolated ARSA with chromosomal defects and other fetal congenital heart diseases (FCHD) in a heterogeneous population. This was a retrospective cohort study conducted between December 2015 to September 2018. Women admitted for routine ultrasound examination or referred to our hospital for a suspected fetal anomaly were underwent detailed fetal anomaly ultrasonography scan and tested for the presence of ARSA. ARSA was detected in 27 patients and an isolated finding in 13 (48%) cases. Among 13 cases with isolated ARSA, trisomy 21 was diagnosed in 1 case. In the non-isolated group (n: 14, 52%), five cases presented with trisomy 21. There was no significant difference of trisomy 21 frequency between isolated and non-isolated groups (7.6% vs 35.7%, p = 0.08). In 3 patients, FCHD was diagnosed and 2 of them had trisomy 21. Our study shows that ARSA can be the only marker in trisomy 21. The examination of the subclavian artery must be a part of the fetal anomaly ultrasonography. Detecting an ARSA should increase the attentiveness of the sonographer to investigate for the other markers of trisomy 21. In the existence of other findings, invasive diagnostic procedures should be offered to the patients, whereas in cases that arsa is the only finding, other risk factors should be investigated to offer karyotyping or cell-free DNA analysis.

Outcomes of mitral valve re-replacement for bioprosthetic structural valve deterioration

ObjectivesReoperation for structural valve deterioration (SVD) of bioprosthetic mitral valves carries a presumed high operative risk, and transcatheter mitral valve-in-valve implantation has emerged as an alternative. However, surgical risk and long-term outcome following mitral valve re-replacement in these patients remain ill-defined. Hence, we sought to evaluate outcomes and long-term survival following surgical mitral valve re-replacement and to identify risk factors for mortality. MethodsFrom January 1990 to January 2017, 525 patients underwent surgical mitral valve re-replacement at Cleveland Clinic for bioprosthetic SVD: 133 (25%) isolated operations and 392 (75%) with concomitant procedures. Surgical complications and modes of death were compiled, long-term mortality assessed, and risk factors identified using a multivariable nonproportional hazards model and random forest analysis. ResultsSVD was characterized by bioprosthetic regurgitation in 81% (425 out of 525) and stenosis in 44% (231 out of 525). One in-hospital death occurred after isolated valve re-replacement (0.75%) and 28 deaths occurred (7.1%; P = .003) after nonisolated re-replacement, 19 (68%) of which were from coagulopathy, vasoplegia, and multisystem organ failure. In the nonisolated group, incremental risk factors for time-related death after re-replacement included New York Heart Association functional class IV symptoms, concomitant coronary artery bypass grafting, prolonged cardiopulmonary bypass time, and transfusions. ConclusionsMitral valve re-replacement for bioprosthetic SVD was associated with low surgical risk and excellent long-term survival. Isolated mitral valve re-replacement for bioprosthetic SVD had near-zero surgical risk. Excessive cardiopulmonary bypass duration and multiple transfusions correlated with increased early mortality in nonisolated procedures, as did preoperative severe heart failure. Optimal surgical plan and timing of surgery are keys to success.

Chromosomal microarray analysis for the detection of chromosome abnormalities in fetuses with echogenic intracardiac focus in women without high-risk factors.

To investigate the association between pathogenic copy number variants (p-CNVs) and abnormal karyotypes detected by chromosomal microarray analysis (CMA) and echogenic intracardiac focus (EIF).This was a retrospective study of fetuses with EIF with CMA data at the Prenatal Diagnosis Center of the West China Second University Hospital of Sichuan University between September 2014 and May 2017. Fetuses were assigned to the isolated EIF and non-isolated EIF groups according to the presence of other ultrasound abnormalities.Among 244 pregnant women, there were 143 cases of isolated EIF and 101 of non-isolated EIF. CMA revealed chromosome abnormality (n = 9 (3.7%): trisomy 21, n = 4; sexual trisomy, n = 2; and p-CNV, n = 3), variants of unknown significance (VOUS, n = 19), and benign CNV (b-CNV, n = 216). Among the fetuses with isolated EIF, 5 had chromosomal abnormalities (3.5%). Among the fetuses with non-isolated EIF, four had chromosomal abnormalities (4.0%). All fetuses with trisomy 21 were in the non-isolated group. The frequency of labor induction was 66.7% (6/9) among the fetuses with chromosome abnormality and 21.1% (4/19) among those with VOUS. Among those with chromosomal abnormalities, one (11.1%) had congenital heart disease.In pregnant women without high-risk factors for chromosomal abnormalities, ultrasound abnormalities, including EIF, could be an indication for CMA. Ultrasound abnormalities (including EIF) and chromosome abnormality could indicate a high risk of CHD. The presence of EIF and at least another ultrasound abnormality could indicate a high risk of trisomy 21.

Stereotactic Body Radiotherapy for Lymph Node Oligometastases.

To evaluate the efficacy of stereotactic body radiotherapy (SBRT) for lymph node oligometastases of the trunk from various primary lesions. Between October 2006 and October 2018, 50 oligometastatic lymph node lesions were treated in 42 patients (median age 69 years, range 42–86, 22 patients were male) with a median dose of 50Gy in 10 fractions (range, 24-70 Gy/3-10 fr). The primary sites were: colorectal (n=12, 24%); gynecological (n=10, 20%); pancreas and bile duct (n=9, 18%); prostate (n=6, 12%); breast (n=4, 8%); and other (18.0%). Eleven lesions were treated with conventional Linac, and 39 with robotic radiosurgery . The local progressions free (LPF) rate and overall survival (OS) rate were calculated using Kaplan-Meier method. Additionally, Statistical difference of OS rates between isolated lesion group (n=26) and non-isolated group (n=16) was examined using log-rank analysis. Acute and late toxicities were also evaluated. Median follow-up period was 20 months. The LPF rates of 1-year and 2-year were 96.8% and 93.0% respectively. The OS rates of 1-year and 2-year in all patients were 85.0% and 64.4%, and 96.2% and 72.3% in isolated lesion group respectively. The OS rate of isolated lesion group was statistically higher than that of non-isolated lesion group (p=0.02). Nine patients have been alive more than 3 years. Acute toxicities were all in grade 1 or 2. There found a case of late toxicities of grade 3 melena. SBRT is a feasible approach for lymph node oligometastases offering excellent local control with low toxicities and might have survival benefit.

Long-term outcome of robin sequence

The airway management of children with Robin sequence is controversial. We conducted a retrospective cohort study of 59 children (<1 year old) with Robin sequence managed between 2000 and 2010. Robin sequence was defined as the presence of mandibular hypoplasia and clinical signs of airway obstruction. Data were collected on demographic characteristics, the presence of a syndrome, the perinatal period, and the management of airway and nutritional problems. Eighteen children (31%) needed respiratory support because of severe respiratory distress, and a sleep study found obstructive apnoea's in another eight children who had been managed by prone positioning and/or monitoring. In the isolated group significantly fewer children needed respiratory support compared to the non-isolated group. After the age of one year, 10% of the Robin sequence cohort was still in need of treatment for obstructive symptoms. Almost half (47%) needed temporary nutritional support. The prevalence of respiratory distress in children with Robin sequence is high. In most children, treatment with prone positioning was sufficient to relieve the airway obstruction. Successful treatment with prone positioning was significantly more often seen in children with an isolated Robin sequence. About one-third of all Robin sequence children needed respiratory support in the neonatal and/or infant period. However, in childhood, only 10% of the total Robin sequence cohort was still dependent on respiratory support. In this presentation the controversies with regard to airway management will be discussed.

Prenatal diagnosis and prognosis of fetal hyperechogenic kidney: a study of 65 cases

Objective To investigate prenatal diagnosis and prognosis of fetus with hyperechogenic kidney. Methods Clinical data of 65 cases prenatally diagnosed with fetal hyperechogenic kidney in Peking University First Hospital between July, 2009 and May, 2015 were retrospectively analyzed. Results of fetal ultrasound screening and pregnancy outcomes were analyzed and Growth and development status of those babies were followed up until December, 2015. Independent-sample-t, Chi-square or Fisher's exact test was applied for statistical analysis. Results Among the 65 cases, including 48(73.8%) bilateral and 17 (26.2%) unilateral, 34 cases (52.3%) were diagnosed as non-isolated and 31 cases (47.7%) as isolated fetal hyperechogenic kidney. The primary associated malformations with non-isolated fetal hyperechogenic kidney included cardiac abnormality (14 cases, 41.2%), urinary system abnormality (12 cases, 35.2%) , skeletal system abnormality (nine cases, 26.5%), central nervous system abnormality (eight cases, 23.5%) and Meckel-Gruber sydrome (one case, 2.9%). Amniotic volume, the size and numbers of affected kidney between non-isolated and isolated groups showed no significant differences (all P>0.05) . Twenty out of the 65 cases (30.8%) received fetal karyotyping and one received non-invasive prenatal testing, and no abnormality was detected. Three cases received cord blood array comparative genomic hybridization with negative results. Pathogenic genes were found in two cases who received targeted exome capture with high throughput sequencing, including a TTC21B mutation in cord blood in one case and a HNF1β deletion mutation in peripheral blood after birth in the other. There were 23 (35.4%) terminations of pregnancy and 42 (64.6%) live births among which three died after birth. The rate of live birth was significantly higher in the isolated group than in the non-isolated group[87.1%(27/31) vs 44.1%(15/34), χ2=13.101, P<0.01]. Of the fifteen live births in the non-isolated group, there were fourteen survived symptom-free except that one lost to follow-up. Of the 27 live births in the isolated group, follow-up study revealed 23 symptom-free survivors, one lost, two neonatal deaths (one died of volvulus neonatorum, and the other due to unknown causes) and one death of renal and liver function failures at the age of two-and-a-half. Conclusions Fetal hyperechogenic kidney is an important prenatal ultrasound marker for congenital renal anomalies, and the prognosis of non-isolated fetal hyperechogenic kidney is poor. The current rate of abnormal karyotype in fetus with hyperechogenic kidney is very low. However, the rate of prenatal genes screening should be encouraged. Key words: Ultrasonography, prenatal; Fetal diseases; Kidney diseases, cystic; Prognosis

One-Year Mortality After Acetabular Fractures in Elderly Patients Presenting to a Level-1 Trauma Center

To evaluate the 1-year mortality of elderly patients after isolated acetabular fractures treated both operatively and nonoperatively, and compared with nonisolated fractures. Retrospective review. Single level 1 trauma center. All consecutive patients who were 60 years of age and older were treated for acetabular fractures over a 12-year period (n = 176). Operative and nonoperative management. 1-year mortality. Exclusion criteria for the isolated group included associated injuries to other body systems (Abbreviated Injury Score >2), long bone fractures, and concurrent sacral fractures. Mortality data were obtained from the Social Security Death Index. The isolated group (n = 86) had an average age of 71.1 ± 7.1 years with 64.0% fractures treated operatively. Mortality rates for the isolated group at 30 days, 3 months, 6 months, and 1 year were 2.3%, 5.8%, 8.1%, and 8.1%, respectively. No significant differences in mortality rates were seen between operative and nonoperative patients across all time points for the isolated group (P = 0.093-0.346). Mortality rates were lower at all time points for the isolated group than for the nonisolated group (n = 90; P = 0.0002-0.02). However, the 1-year postdischarge mortality rates for patients who were discharged from the hospital were similar for the nonisolated and isolated groups (6.8% vs. 7.1%; P = 0.76). The mortality rates for elderly patients with isolated acetabular fractures were found to be significantly lower than those for acetabular fractures with concurrent injuries. Age was identified as the only significant variable differing between patients treated operatively versus nonoperatively, as opposed to medical comorbidities in the isolated acetabular fracture group. Prognostic Level II. See Instructions for Authors for a complete description of levels of evidence.

Unravelling Robin sequence

Objectives/HypothesisThe airway management of children with Robin sequence is controversial. This study provides an overview of a single‐center experience with the diagnosis and treatment of 59 children with Robin sequence.Study DesignRetrospective cohort study.MethodsWe conducted a retrospective cohort study of 59 children (&lt;1 year old) with Robin sequence managed between 2000 and 2010. Robin sequence was defined as the presence of mandibular hypoplasia and clinical signs of airway obstruction. Data were collected on demographic characteristics, the presence of a syndrome, the perinatal period, and the management of airway and nutritional problems.ResultsEighteen children (31%) needed respiratory support because of severe respiratory distress, and a sleep study found obstructive apneas in another eight children who had been managed by prone positioning and/or monitoring. In the isolated group significantly fewer children needed respiratory support compared to the nonisolated group. After the age of 1 year, 10% of the Robin sequence cohort was still in need of treatment for obstructive symptoms. Almost half (47%) needed temporary nutritional support.ConclusionsThe prevalence of respiratory distress in children with Robin sequence is high. In most children, treatment with prone positioning was sufficient to relieve the airway obstruction. Successful treatment with prone positioning was significantly more often seen in children with an isolated Robin sequence. About one‐third of all Robin sequence children needed respiratory support in the neonatal and/or infant period. However, in childhood, only 10% of the total Robin sequence cohort was still dependent on respiratory support.Level of Evidence4 Laryngoscope, 124:E203–E209, 2014

Perinatal Outcome in the Live-Born Infant with Prenatally Diagnosed Omphalocele

We compared perinatal outcomes between live-born nonisolated and isolated omphaloceles diagnosed during a prenatal ultrasound. Fetuses (n = 86) with omphalocele were identified between 1995 and 2007 at a single institution. Inclusion criteria were an omphalocele >14 weeks' gestation, available fetal and/or neonatal karyotype, and a live-born infant (n = 46). Perinatal outcomes were compared in nonisolated (n = 23) and isolated omphaloceles (n = 23). For all omphaloceles, the majority delivered after 34 weeks by cesarean. Mean birth weight (2782 versus 2704 g), median length of stay (27 versus 25 days), and mortality (two deaths in each group) were not different between the nonisolated and isolated groups (p > 0.05). In the nonisolated group, seven major anomalies were not confirmed postnatally. Of the prenatally diagnosed isolated omphaloceles, 8 (35%) were diagnosed with a syndrome or other anomalies after birth. The outcomes were similar in nonisolated and isolated prenatally diagnosed omphaloceles, but ultrasound did not always accurately determine the presence or absence of associated anomalies.

Contact isolation in surgical patients: A barrier to care?

Background. Contact isolation is commonly used to prevent transmission of resistant organisms. We hypothesized that contact isolation negatively impacts the amount of direct patient care. Methods. For 2 hours per day over a 5-week period, a single observer recorded provider/patient contact in adjacent isolated and nonisolated patient rooms on both the surgical intensive care unit (ICU) and surgical wards of a university hospital. Number of visits, contact time, and compliance with isolation were recorded, as was illness severity as assessed by APACHE II score. Results. Isolated patients were visited fewer times than nonisolated patients (5.3 vs 10.9 visits/h, P <.0001) and had less contact time overall (29 ± 5 vs 37 ± 3 min/h, P =.008), in the ICU (41 ± 10 vs 47 ± 5 min/h, P =.03), and on the floor (17 ± 3 vs 28 ± 4 min/h, P =.039), in spite of higher mean APACHE II scores in the isolated (10.1 ± 1.0 vs 7.6 ± 0.8, P =.05). Among floor patients with APACHE II scores greater than 10, patients in the isolated group had nearly 40% less contact time per hour than patients in the nonisolated group (19 ± 4 vs 34 ± 7 min/h, P =.05). Conclusion. Because of the significantly lower contact time observed, particularly among the most severely ill of floor patients, we propose a reexamination of the risk-benefit ratio of this infection control method. (Surgery 2003;134:180-8.)

Effects of other intra-abdominal injuries on the diagnosis, management, and outcome of small bowel trauma.

Difficulty with and delays in diagnosis are possible causes of increased morbidity and mortality in small bowel injuries. We assessed whether multiple intra-abdominal injuries led to earlier laparotomy and whether this resulted in improved outcome. Patients with small bowel injuries between January 1993 and December 1997 from the trauma database at St. Michael's Hospital in Toronto were assessed after dividing them into those with isolated small bowel injury ("isolated") and those with small bowel injuries in association with other intra-abdominal injuries ("nonisolated"). Parameters compared were age, gender, length of stay, mortality, intra-abdominal complications, mechanism of injury, diagnostic time, and how the diagnosis was made. Of 1,207 patients, 244 sustained abdominal injuries, and 83 had small bowel injuries (30 patients in the isolated group and 53 in the nonisolated group). Groups were similar with respect to age and gender, yet differed significantly with respect to mechanism and mean Injury Severity Scores (isolated, 18 +/- 8 vs. nonisolated, 30 +/- 15). Outcome differed between groups, as mortality (isolated, 0 of 30 vs. nonisolated, 4 of 53 deaths), length of stay (isolated, 13 +/- 2 vs. nonisolated, 22 +/- 3 days), and patients with intra-abdominal complications (isolated, 5 of 30 vs. nonisolated, 14 of 53 patients) were significantly higher in the nonisolated group. Time to diagnosis was significantly less in the nonisolated group. Decision for laparotomy and diagnosis of small bowel injuries were based more on physical findings in the nonisolated group and on computed tomography in the isolated group. The presence of associated intra-abdominal injuries significantly affects presentation and outcome of patients with small bowel injuries and the selection of diagnostic modalities.