Eliminating first trimester combined testing: Consequences for early detection of significant fetal anomalies.

OBJECTIVE: To determine whether implementation of cell-free DNA (cfDNA) testing for aneuploidy as a first-tier test and subsequent abolition of first trimester combined testing (FCT) affected the first trimester detection (<14 weeks) of certain fetal anomalies. METHODS: We performed a geographical cohort study in two Fetal Medicine Units between 2011 and 2020, including 705 fetuses with prenatally detected severe brain, abdominal wall and congenital heart defects. Cases were divided into two groups: before (n = 396) and after (n = 309) cfDNA introduction. The primary outcome was the first trimester detection rate (<14 weeks) overall and for non-chromosomal anomalies solely. RESULTS: Overall, gastroschisis, AVSD and HLHS were detected more often in the first trimester in the before group compared to the after group, respectively 54.5% versus 18.5% (p = 0.004), 45.9% versus 26.9% (p = 0.008) and 30% versus 3.4% (p = 0.005). After exclusion of chromosomal anomalies identifiable through cfDNA testing, the detection of AVSD remained higher in the before group (43.3% vs. 9.5%, p = 0.02), leading to a possible earlier gestation at termination. The termination of pregnancy (TOP) rate did not differ among the groups. In the after group, referrals for suspected anomalies following a dating scan between 11 and 14 weeks significantly increased from 17.4% to 29.1% (p < 0.001). CONCLUSION: This study underscores the value of a scan dedicated to fetal anatomy in the first trimester as we observed a decline in the early detection of certain fetal anomalies (detectable in the first trimester) subsequent to the abolition of FCT.

Investigation of cardiopulmonary parameters, motor development and muscle strength in children with Down syndrome with and without congenital heart disease.

BACKGROUND: Children with Down syndrome (DS) frequently have concomitant clinical problems. There are no studies in the literature evaluating gross motor development and handgrip strength in the presence of congenital heart disease (CHD), which is one of the most common comorbidities in population with DS. The aim of this study was to compare cardiopulmonary parameters, gross motor development and handgrip strength in children with DS with and without CHD. METHODS: A total of 28 children with DS (14 with CHD and 14 without CHD) were evaluated. Demographic data and cardiopulmonary parameters were recorded. Gross motor development and handgrip strength were assessed. RESULTS: Children with DS and CHD had lower GMFM-88 scores and right handgrip strength and higher Wang respiratory score than children with DS and no CHD (P < 0.05). GMFM-88 scores were moderately correlated with resting oxygen saturation (r = 0.46, P = 0.01) and right handgrip strength (r = 0.67, P < 0.001). CONCLUSIONS: Peripheral muscle strength and oxygen saturation may be factors affecting gross motor development in children with DS. From this point of view, evaluating cardiopulmonary parameters, motor development and handgrip strength in children with DS and CHD is important to identify risks, provide early intervention and support development.

The effect of current pulp capping materials against intrapulpal temperature increase in primary teeth. An in-vitro study by pulpal microcirculation simulation model.

BACKGROUND/PURPOSE: Widespread use of light-cured materials has raised the issue of possible thermal effects on pulp tissue. It was aimed to investigate the effectiveness of pulp capping materials (PCM) against intrapulpal temperature increases (ITI) in primary teeth during light-curing of compomers in this study. MATERIALS AND METHODS: A Class-I cavity was prepared on the primary mandibular second molar tooth. An experimental mechanism was used for pulpal microcirculation and temperature regulation of the tooth. There are eight groups in the study: in Groups 1-6: MTA-Angelus, Biodentine, TheraCal LC, Dycal, conventional Glass Ionomer Cement (GIC) and resin-modified GIC were used as PCM, respectively. In Group-7 no PCM was used. In Group-8 only light was applied to the cavity without any PCM or compomer. Compomer restorations were applied in Groups 1-7 with the same material (Dyract XP, DENTSPLY, Weybridge, UK) and light cured for 10sec with the same light-curing unit (Kerr, Demi Plus, 1200 mW/cm2). Temperature changes (Δt) in the pulp chamber were measured and statistically analysed with Kruskal-Wallis and Mann Whitney U tests. RESULTS: The highest Δt-value (4.57 ±â€¯0.11 °C) was measured in Group-4 and 7. The lowest Δt-value (3.94 ±â€¯0.4 °C) was measured in Group-8. Δt-values measured in the Groups 2, 3 and 6 were significantly lower than the values measured in Group-4 and 7 (p = 0.001). ITI during the light-curing of the PCM used in Group-3 and 6 exceeded the critical value (5.5 °C) reported in the literature. CONCLUSION: In protecting the pulp from the harmful thermal effects of restorative procedures Biodentine which is a self-cured material, may be most acceptable choice as an indirect PCM.

Kinematics of a novel reciprocating endodontic handpiece.

AIM: To analyse the kinematics of the Reciproc Direct® contra-angle reciprocating device with different motor sources. METHODOLOGY: Reciproc Direct contra-angle (VDW GmbH, Munich, Germany) was tested with new micro-motor sources. The micro-motor groups were as follows: a brushless electric micro-motor, a brushed electric micro-motor and an air-driven micro-motor. The electric micro-motor sources were also divided into four subgroups as 10 000, 15 000, 20 000 and 25 000 rpm. The maximum air pressure of the air-driven micro-motor was adjusted to 2 and 3 kgf cm-2 . A custom target object was attached to the Reciproc Direct, and reciprocating motions were recorded with a high-speed camera at 1200 frames per second. The following kinematic parameters were calculated: duration of each reciprocating motion, engaging and disengaging angles, cycle rotational speeds, engaging and disengaging rotational speeds, net cycle angle, total cycle angle and number of cycles to complete full rotation. One-way anova was used where applicable, followed by Tukey's multiple comparison tests, to compare the kinematic values of reciprocating motion for each micro-motor/Reciproc Direct combination. The Kruskal-Wallis test followed by Dunn's multiple comparison test was used for non-normally distributed data. Statistical analysis was performed (α = 0.05). RESULTS: For the brushless micro-motor, median engaging angle was 186.5 ° at 10 000 rpm and 188.0 ° at 15 000 rpm which were significantly different than median engaging angles at 20 000 (188.5 °) and 25 000 (189.3 °) rpm (P < 0.05). For the brushless micro-motor, median cycle rotational speed was 372.5 rpm at 10 000 and 459.8 rpm at 15 000 rpm which were significantly different than median cycle rotational speed at 20 000 (576.2 rpm) and 25 000 (677.8 rpm) rpm (P < 0.05). For the brushed micro-motor, median cycle rotational speed was 293.5 rpm at 10 000 and 386.3 rpm at 15 000 rpm which were significantly different than median cycle rotational speed at 20 000 (508.9 rpm) and 25 000 (597.6 rpm) rpm (P < 0.05). CONCLUSIONS: Rotational speeds were influenced significantly by motor sources even when the Reciproc Direct was used at speeds recommended by the manufacturer. This could indicate that the kinematics of the Reciproc Direct are dependent on the power of the rotating motor.

Success rate of natural orifice specimen extraction after laparoscopic colorectal resections.

PURPOSE: To date, no data have been available to inform which cases are appropriate for natural orifice specimen extraction (NOSE) after laparoscopic colorectal resections (LCRRs). Our aim was to evaluate the success rate and the factors affecting the failure in patients who were scheduled for NOSE after LCRRs. METHODS: Seventy-two consecutive cases that were intended for NOSE after LCRR were enrolled. The transanal route was always chosen as the first option, and when it failed, the transvaginal route was tried in female patients. If both failed, the specimen was judged as unsuitable for NOSE and removed through an abdominal wall incision. Demographic data, surgical indications, resection localization, implemented procedures, incision sites, specimen extraction methods, specimen sizes, and failures of NOSE were recorded. RESULTS: A total of 349 colorectal resections (240 open and 109 laparoscopic) in a 3-year period were examined. The subset of 72 consecutive patients who met the criteria were analyzed. Five cases required a conversion to open surgery during resections. In the remaining 67 patients, NOSE after LCRR was successful in 49 cases (73.1%) but failed in 18 (26.9%). Specimens were extracted from transanal and transvaginal routes in 37 (75.5%) and 12 (24.5%) patients, respectively. The failure rate of NOSE after LCRR was higher in males, in colonic lesions, and in large-sized tumors. The mean sizes of transanal and transvaginal extracted specimens were 3.5 ± 3.1 and 5.4 ± 1.4 cm, respectively (p < 0.05). The mean size of the tumors in the failed cases was 6.5 ± 4.2 cm (p < 0.05). CONCLUSIONS: Approximately 2/3 of the unselected LCRRs were suitable for NOSE. The success rate increased with female gender, small-sized tumors, and rectal resections.

Histopathological Examination of Explanted Liver After Transplantation in Patients With Cryptogenic Cirrhosis.

OBJECTIVES: Cryptogenic cirrhosis is a common indication for liver transplantation. Diagnosis is made after exclusion of other causes of cirrhosis. In this study, the aim was to evaluate patients with cryptogenic cirrhosis after histopathological examination of explanted liver. MATERIALS AND METHODS: A retrospective histopathological chart review of 117 patients with cryptogenic cirrhosis who had liver transplantation between November 2009 and June 2014 was performed. Age, sex, operative features, survival rates, and preoperative and postoperative diagnosis were evaluated. RESULTS: During the study period, 123 liver transplantations were performed for these 117 patients. Deceased donor liver transplantations were performed in 23 (18.7%) of the cases. Retransplantations were performed in 5 patients. Median age was 48 years, and female-to-male ratio was 41:76. Hepatosteatosis were observed in 29 patients. Nonalcoholic fatty liver disease and nonalcoholic steatohepatitis were observed in 20 (12%) and 9 (7.7%) of these patients, respectively. Autoimmune hepatitis was observed in 2 patients. The definitive cause of cirrhosis was unclear in 68 (58%) of the patients. Incidental malignant and premalignant lesions were observed in 15 patients. CONCLUSIONS: Histopathological examination of the explanted liver after liver transplantation in those patients with cryptogenic cirrhosis may significantly help to diagnose the cause of cirrhosis, such as nonalcoholic steatohepatitis or autoimmune hepatitis, with using the scoring system developed by the International Autoimmune Hepatitis Workgroup. In addition, incidental malignant or premalignant lesions may be observed.

Living Donor Liver Transplantation With Vena Cava Replacement.

OBJECTIVES: This study sought to evaluate the indications, techniques, and results of inferior vena cava (IVC) replacement at living donor liver transplantation (LDLT). MATERIALS AND METHODS: We performed 821 LDLTs and 11 (1.3%) patients required concomitant IVC replacement. We analyzed the indications, replacement materials, and outcomes. RESULTS: Right, left, and left lateral liver lobes were transplanted in 7, 2, and 2 patients, respectively. The indications for IVC replacement were thrombosis/fibrosis in 7 patients (Budd-Chiari 4, hereditary tyrosinemia 1, congenital hepatic fibrosis 1, cryptogenic 1), involvement with mass in 3 patients (Echinococcus alveolaris 2, hepatoblastoma 1) and iatrogenic narrowing at IVC in 1 patient. Cryopreserved grafts (aorta n = 5, IVC n = 4, iliac vein n = 1) or synthetic graft (n = 1) were used for replacements. In 1 patient, hepatic outflow obstruction developed at 39 days and was treated successfully by interventional radiology. There was only 1 hospital mortality (8.9%) that was unrelated to caval replacement (subarachnoid hemorrhage). Of the remaining patients, the caval grafts were patent after a mean 7.7 months of follow-up (range 1 to 17 months). CONCLUSIONS: Although rare, IVC replacement can be necessary at LDLT. Budd-Chiari and E. alveolaris are the main underlying diseases for replacement requirements. Caval replacement with cryopreserved vascular grafts can provide successful short-term and long-term patency.

Histopathologic Findings of Cholecystectomy Specimens in Patients Who Underwent Donor Hepatectomy for Living Donor Liver Transplantation.

BACKGROUND: The aim of this study was to discuss the macroscopic and microscopic properties of gallbladder specimens obtained from living liver donors. METHODS: The study retrospectively analyzed the clinical and histopathological data of 1088 donors who underwent living donor hepatectomy between March 2005 and September 2014 at Inonu University Faculty of Medicine, Liver Transplantation Center. Age, sex, macroscopic, and microscopic properties of the gallbladder (bladder length, diameter, content, and histopathological properties) were recorded by 2 researchers. RESULTS: A total of 1009 donors aged 17 to 66 years (31.1 ± 9.5) met the inclusion criteria, whereas 79 donors were excluded due to missing data. In total, 587 donors were male (30.5 ± 9.1 years [16-63 years]) and 422 were female (31.8 ± 9.8 years [18-66 years]). Preoperative tests revealed Gilbert syndrome in 3 subjects, whereas other donors' biochemical tests were within normal ranges. The macroscopic examination of gallbladders revealed mean gallbladder wall thickness, length, and width of 1.82 ± 0.8 mm (1-10 mm), 72 ± 11.4 mm (40-120 mm), and 52.5 ± 14 mm (15-90 mm), respectively. The microscopic gallbladder examination showed that 740 donors had a normal gallbladder, 193 had chronic cholecystitis (1 donor had antral metaplasia and 1 had intestinal metaplasia), 40 had cholesterolosis (1 donor had both tubular adenoma and intestinal metaplasia), 15 had minimal chronic cholecystitis (1 donor had pyloric metaplasia), 14 had cholelithiasis, 2 had adenomyosis, 2 had muscular hypertrophy, 1 had papillary hyperplasia, 1 had microdiverticulitis, and 1 had mucosal lymphatic ectasia. CONCLUSION: The results of this study reflect the actual gallbladder pathologies that can be detected in healthy people. Clearer conclusions can be reached about the epidemiological data on gallbladder as the number of living liver donors increases in the future.

Influence of Liver Transplantation on Neuropsychiatric Manifestations of Wilson Disease.

OBJECTIVES: This study sought to evaluate the effect of liver transplantation on the neuropsychological manifestations of Wilson disease. MATERIALS AND METHODS: Nine of 42 Wilson disease patients had neuropsychological symptoms before liver transplantation. They were 7 male and 2 female subjects with a median age of 19 years (range 10 to 25). They were analyzed for their preoperative and postoperative hepatic, neurological, and psychological scores described by the Unified Wilson Disease Rating Scale after a mean 36.6 months of follow-up. RESULTS: Preoperative mean Model for End-Stage Liver Disease and Child-Pugh scores were 18.3 (range 15 to 26) and 8.9 (range 6 to 12), respectively. One patient had acute postoperative ischemic stroke unrelated to Wilson disease and was excluded from the statistical analysis. Preoperative and postoperative hepatic, neurological, and psychological scores of the remaining 8 patients were 7.4 ± 2.3 vs 2.4 ± 1.3 (P = .0005), 17.7 ± 11.7 vs 12.7 ± 12.5 (P = .055), and 9.0 ± 1.7 vs 7.0 ± 2.1 (P = .033). CONCLUSIONS: Liver transplantation for Wilson disease can provide some improvement of the neuropsychological symptoms in addition to the hepatic recovery.

Follow up of a family with asymptomatic compound long QT syndrome mutations.

Long QT syndromes (LQTS) are a cause of syncope and sudden death and present as a long QT interval on the surface ECG. The mortality of the condition may be quite variable among affected individuals. Hundreds of mutations in more than ten genes are identified as responsible for almost all patients with LQTS. Compound mutations are reported in different series as 4.5 and 7.9% and are associated with poor outcome. Beta blockers are the mainstay of therapy. The use of intracardiac defibrillators (ICD) is widely considered in patients at high risk for sudden death. Herein, we report a case of LQTS with compound mutations of KCNQ1 and SCN5a. Although ICD implantation was advised due to high cardiac event risk, the patient followed with beta blocker treatment for 15 years without any syncope or palpitations.

Churg-Strauss syndrome associated with acalculous cholecystitis and liver involvement.

We describe a 65-year-old man who had liver involvement with Churg-Strauss syndrome. He was admitted to the hospital because of fever, weight loss, dyspnea, abdominal pain, skin lesions and paraesthesias. His past medical history revealed a diagnosis of acalculous cholecystitis that had been made eight months earlier. Microscopic examination of a gall bladder biopsy specimen obtained at that time revealed an increase in extravascular eosinophils. There was evidence of a new bilateral pulmonary disease with bronchoconstriction and a transient infiltrated lesion in the right upper lung. The patient's white cell count was 14 620 per cubic millimetre, with 39% eosinophils (5800 per cubic millimetre) and 39% neutrophils. IgE was 503 g/L (normal range, 0 to 100 g/L). Liver function tests were mildly elevated. Fine needle liver biopsy showed active interface hepatitis. A diagnosis of Churg-Strauss syndrome was made. In this patient the syndrome occurred in a rare association with hepatitis, likely due to immunologic events in the liver. The patient was successfully treated with 60 mg/day of prednisolone monotherapy.