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Objective: We present low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line. Case Report: A 36-year-old, primigravid woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. This pregnancy was conceived by in vitro fertilization and embryo transfer (IVF-ET). Amniocentesis revealed a karyotype of 47,XY,+21 [3]/46,XY [17] (15% mosaicism) and simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr (21) × 2∼3 (X,Y) × 1, consistent with 24.5% mosaicism for trisomy 21. Cordocentesis performed at 21 weeks of gestation revealed a karyotype of 47,XY,+21 [3]/46,XY [37] (6% mosaicism). She was referred for genetic counseling at 31 weeks of gestation, and continuing the pregnancy was advised. The parental karyotypes and prenatal ultrasound were normal. At 37 weeks of gestation, a phenotypically normal baby was delivered with a body weight of 2900-g. The karyotypes of cord blood, umbilical cord and placenta were 47,XY,+21 [1]/46,XY [39] (2.5% mosaicism), 47,XY,+21 [10]/46,XY [30] (25% mosaicism) and 47,XY,+21 [22]/46,XY [18] (55% mosaicism), respectively. Quantitative fluorescent polymerase chain reaction (QF-PCR) analysis on the DNA extracted from umbilical cord and parental bloods excluded uniparental disomy (UPD) 21 and revealed a maternal origin of the extra chromosome 21. When follow-up at the age of 2 months, the neonate was normal in phenotype and development. The peripheral blood had a karyotype of 47,XY,+21 [1]/46,XY [39] (2.5% mosaicism), and interphase fluorescence in situ hybridization (FISH) analysis on uncultured buccal mucosal cells revealed 4.7% (5/105 cells) mosaicism for trisomy 21, compared with 0% (5/100 cells) in the normal control. Conclusion: Low-level mosaic trisomy 21 at amniocentesis and cordocentesis can be associated with favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line.

Objective: We present low-level mosaic trisomy 14 at amniocentesis. Case report: A 37-year-old, gravida 2, para 1, woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. This pregnancy was conceived by in vitro fertilization and embryo transfer (IVF-ET). Amniocentesis revealed a karyotype of 47,XX,+14 [4]/46,XX [27], consistent with 12.9% mosaicism for trisomy 14. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr (1–22, X) × 2 with no genomic imbalance. Prenatal ultrasound findings were unremarkable. She was referred for genetic counseling at 21 weeks of gestation and was offered expanded non-invasive prenatal testing (NIPT) which was positive for trisomy 14. At 24 weeks of gestation, she underwent repeat amniocentesis which revealed a karyotype of 47,XX,+14 [2]/46,XX [26], consistent with 7% mosaicism for trisomy 14. The parental karyotypes were normal. Simultaneous aCGH analysis on the DNA extracted from uncultured amniocytes revealed no genomic imbalance. Polymorphic marker analysis excluded uniparental disomy (UPD) 14. Interphase fluorescence in situ hybridization (FISH) analysis on 104 uncultured amniocytes detected no trisomy 14 cell. At 35 weeks of gestation, a 2315-g phenotypically normal baby was delivered. The umbilical cord and placenta had the karyotype of 46, XX (40/40 cells). aCGH analysis on the DNA extracted from peripheral blood and buccal mucosal cells at the age of three months revealed no genomic imbalance. The neonate was normal in phenotype and development during postnatal follow-ups. Conclusions: Low-level mosaic trisomy 14 at amniocentesis can be associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 14 cell line and a favorable fetal outcome.

Objective: We present low-level mosaic trisomy 21 at amniocentesis in a pregnancy with a favorable fetal outcome. Case Report: A 38-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+21[4]/46,XY[34]. Prenatal ultrasound findings were normal. At 27 weeks of gestation, she was referred for genetic counseling, and the cultured amniocytes had a karyotype of 47,XY,+21[2]/46,XY[26]. Quantitative fluorescent polymerase chain reaction (QF-PCR) analysis on the DNA extracted from uncultured amniocytes and parental bloods excluded uniparental disomy (UPD) 21. Interphase fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes revealed 30% (30/100 cells) mosaicism for trisomy 21. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr 21q11.2q22.3 × 2.25, consistent with 20%–30% mosaicism for trisomy 21. The parental karyotypes were normal. The woman was advised to continue the pregnancy, and a 3510-g phenotypically normal male baby was delivered at 39 weeks of gestation. Cytogenetic analysis of the cord blood, umbilical cord and placenta revealed the karyotypes of 47,XY,+21[1]/46,XY[39], 47,XY,+21[2]/46,XY[38] and 46,XY in 40/40 cells, respectively. When follow-up at age 1 year and 2 months, the neonate was normal in phenotype and development. The peripheral blood had a karyotype of 46,XY in 40/40 cells, and interphase FISH analysis on uncultured buccal mucosal cells showed 6.4% (7/109 cells) mosaicism for trisomy 21. Conclusion: Low-level mosaic trisomy 21 at amniocentesis can be associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome.

Introduction. Respiratory distress of newborns is one of the most common causes of complications, irreversible damage to the central nervous system and deaths in the neonatal period.The objective was to analyze the current features of epidemiology, risk factors and outcomes of respiratory distress (RD) in newborns according to the literature.Materials and methods. The analysis includes 112 publications included in the abstract PubMed database for the period from 2017 to 2023. The search was carried out using keywords: respiratory distress, respiratory distress syndrome, newborns, favorable outcome, unfavorable outcome, risk factor, epidemiology. After the initial study of abstracts, 62 articles were excluded from the review on predicting disease outcomes and the effect of therapeutic measures on the course of respiratory failure in the neonatal period.Results. Studies on the epidemiology of respiratory distress in newborns are very numerous, but the information available in them is extremely heterogeneous and cannot be extrapolated to patients with neonatal ICUs all over the world. Low weight and short gestation at the time of birth are the main risk factors for an unfavorable neonatal period outcome, especially in developing countries. A special risk group is prematurity with extremely low body weight, especially if they have severe infections and sepsis. Severe hypoxemic respiratory failure in the neonatal period in full-term newborns, in most cases, is noted in persistent pulmonary hypertension, which requires significant costs of all health care resources. Therapeutic strategies that have significantly reduced mortality in newborns with RD are surfactant replacement therapy and various options for non-invasive respiratory support.Conclusion. The most frequent cause of hypoxemic respiratory failure in the neonatal period is respiratory distress syndrome and transient tachypnea of newborns, which is due to nursing full-term newborns and increasing indications for surgical delivery.

Myxopapillary ependymoma, a rare variant of ependymoma, commonly occurs in the conus medullaris or filum terminale. The rarity of these tumors can make their diagnosis and treatment challenging. This case report presents an atypical occurrence of myxopapillary ependymoma within the sacrum in a 68-year-old patient presented with a 3-month history of persistent left-sided low back pain radiating to the legs and fecal dysfunction. The patient underwent a sacral laminectomy and subtotal excision of the tumor, followed by adjuvant radiotherapy with favorable outcomes.This report highlights the significance of tailored approaches for unconventional tumor locations emphasizes the potential benefits of multimodal treatment strategies and provides insights from a comprehensive literature review on similar cases.

With the change in drug-resistant pattern, MDR/RR-TB was faced with underlying changes in regimens. A multi-center, large-scale, retrospective study performed aims to provide a recommendation of drug selection on optimization of outcome for the patients. The study was conducted in six TB-specialized hospitals in China. Patients were included from 2018-2021 and followed up throughout the treatment. Using a multivarariable and propensity score-matched logistic regression analysis, we evaluated associations between outcomes and drug use, as well as clinical characteritics. Of 3112 patients, 74.29% had treatment sucess, 14.52% lost to follow-up, 9.67% failure, and 1.51% died. Treatment success was positively associated with Bedaquiline(Bdq), Linezolid(Lzd), and Cycloserin(Cs). Capreomycin(Cm) increased the risk of unfavorable outcomes. other drugs such as Amikacin(Amk) and clofazimine had no significant effect on outcomes. If isolates were susceptible to fluoroquinolones(FQs), FQs could decrease the risk of unfavorable outcomes. The recommendation order for the treatment of MDR/RR-TB is Bdq, Lzd, and Cs. FQs were decreased in use intensity. Injection drugs, whether Amk or Cm, are not recommended. [ABSTRACT FROM AUTHOR]

Objectives: French Guiana also suffered concrete epidemiological consequences of the SARS-CoV2 epidemic. These regions are home to a large number of sickle cell patients who are at risk of developing severe forms of COVID-19. This study aimed to describe the characteristics and prognosis of patients with sickle disease infected with SARS-CoV2 during the first and second epidemic waves of 2020 in French Guiana. Design: We conducted a multicenter, retrospective cohort study that included sickle cell patients followed up in French Guiana. Results: Among the 79 patients infected with SARS-CoV2, there were 26 children

Objective: We present mosaicism for a 12p12.1p12.2 microdeletion with a normal euploid cell line at amniocentesis in a pregnancy with a favorable outcome and postnatal decrease of the aneuploid cell line with microdeletion. Case report: A 35-year-old woman, gravida 2, para 1, underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed mosaic 46,XY,del (12) (p11.2p12), and array comparative genomic hybridization (aCGH) revealed arr Xp22.31 × 2 mat, 12p12.2p12.1 × 1 [0.36]dn with a 4.15-Mb 36% mosaicism for a 12p12.1p12.2 microdeletion. At 22 weeks of gestation, she underwent cord blood sampling of which aCGH revealed arr Xp22.31 × 2 mat, 12p12.2p12.1 × 1 [0.34]dn with a 4.24-Mb 34% mosaicism for a 12p12.1p12.2 microdeletion. Prenatal ultrasound findings were unremarkable. She was referred for genetic counseling, and continuing pregnancy was advised. A 2990-g male baby was delivered at 38 weeks of gestation with no phenotypic abnormality. When follow-up at age 1½ months, the neonate was phenotypically normal. The karyotype of peripheral blood was 46,XY. aCGH analysis on the DNA extracted from peripheral blood revealed the result of arr 12p12.1p12.2 (20, 367, 240–24,489,386) × 1.87, arr Xp22.31 (6,488,721–8,097,511) × 2.0 [GRCh37 (hg19)] with 10–15% (log2 ratio = 0.1) mosaicism for a 4.122-Mb 12p12.1-p12.2 microdeletion encompassing 17 OMIM genes of PDE3A, SLCO1C1, SLCO1B3, SLCO1B1, IAPP, PYROXD1, RECQL, GOLT1B, SPX, GYS2, LDHB, KCNJ8, ABCCP, CMAS, C2CD5, ETNK1 and SOX5 and a 1.609-Mb Xp22.31 duplication encompassing two OMIM genes of STS and VCX. Interphase fluorescence in situ hybridization (FISH) analysis on 104 buccal mucosal cells using 12p12.1-specific probe showed 17% (18/104 cells) mosaicism for a 12p12.1 deletion. Polymorphic DNA marker analysis on the DNA extracted from proband's blood and parental bloods determined a paternal origin of the mosaic 12p12.1 deletion. Conclusion: Mosaicism for a 12p12.1p12.2 microdeletion at amniocentesis with a normal euploid cell line can be a benign condition in association with a favorable fetal outcome and postnatal decrease of the aneuploid cell line with microdeletion.

Respiratory distress of newborns is one of the most frequent causes of infant admission to intensive care units, the development of severe complications of the neonatal period and lethal outcomes.The objective was to study the epidemiology and outcomes of respiratory distress in newborns requiring intensive care measures.Materials and methods. The design was a retrospective observational study. We examined 180 newborns, the mean weight was 1620 (1075–2197.5) g, and the gestational age was 31.8 (29–34.5) weeks. Apgar score at minute 1 was 5 (4–7) and at minute 5 was 7 (6–7) scores. The duration of artificial lung ventilation was 2 (12.5–242) hours, and the duration of treatment in the NICU was 10 (6–19) days. Lethal outcomes occurred in 6 (3%) cases.Results. The most frequent cause of respiratory distress in newborns was respiratory distress syndrome in newborns (53%). The second place was occupied by asphyxia in childbirth (31%). Intra-amniotic infection was detected in 11 (6%) newborns, and intrauterine pneumonia in 5 (3%) infants. Transient tachypnea was registered in 6 (3%) newborns, and meconium aspiration syndrome – in 8 (4%) patients. In premature infants, the most severe course of respiratory distress was noted in pneumonia and asphyxia, in mature infants – in meconium aspiration syndrome. The maximum duration of intensive care measures was observed in intra-amniotic infection – 16 days and respiratory distress syndrome – 11 days. The outcome in 47% was favorable – complete recovery. Unfavorable outcomes included intraventricular hemorrhage (12%), combination of two or more complications (20%), bronchopulmonary dysplasia (5%), and persistent arterial ductus (4%).Conclusion. The outcome of respiratory distress in newborns with adequate assessment of the severity of the condition and timely initiated evidence-based treatment is determined not by the main clinical diagnosis, but by the gestational age and severity of the infant condition at the time of birth.

Background and purpose: The efficacy and safety of endovascular treatment (EVT) in acute basilar artery occlusion (ABAO) has been confirmed by four randomized clinical trials. Nevertheless, the predictors of a 90-day favorable outcome after EVT have not been elucidated. We attempted to establish a nomogram for the prediction of a 90-day favorable outcome in ABAO patients with EVT. Methods: Clinical data of ABAO patients with EVT were obtained from two nationwide clinical trial registries in China. Factors associated with a 90-day favorable outcome were screened by multivariable step-wise regression on the basis of univariable analysis. A nomogram was established to predict 90-day favorable outcome after EVT. Results: The proportion of ABAO patients with a favorable outcome was 41.53% (157/378). Seven variables, including baseline National Institutes of Health Stroke Scale (NIHSS) <20 [odds ratio (OR): 8.330; P-value < 0.0001], posterior circulation Alberta Stroke Program Early CT (pc-ASPECT) score ≥7 (OR: 1.948; P-value = 0.0296), Pons-Midbrain Index (PMI) score <2 (OR: 2.108; P-value = 0.0128), Posterior Circulation Collateral Score (PC-CS) ≥5 (OR: 3.288; P-value < 0.0001), local anesthesia (OR: 0.389; P-value = 0.0017), time from onset to recanalization (OTR) <330min (OR: 2.594; P-value = 0.0013), and no occurrence of early neurological deterioration (END; OR: 0.039; P-value < 0.0001) were included into the nomogram, with C-index values of 0.8730 and 0.8857 in the training and the internal validation set, respectively. Conclusions: The proposed nomogram provided a reliable prognostic scale, which can be employed in clinical settings for the selection and clinical management of ABAO patients. [ABSTRACT FROM AUTHOR]

Background and aims: Octogenarians are underrepresented in recently published studies that showed the benefit of endovascular stroke treatment (EST) for patients with acute basilar artery occlusion (BAO). We aimed to compare the clinical outcome of octogenarians with BAO and EST compared to younger patients (YPs) and identify independent outcome predictors. Methods: This is a retrospective, single-center analysis of patients treated for BAO with EST from January 2013 until June 2021 in a tertiary stroke center. Octogenarians (80-89 years) were compared to YPs. A study endpoint was a favorable clinical outcome as per the modified Rankin Scale (mRS 0-3), 90 days after stroke onset. The study groups were compared using univariate analysis, and a multivariable logistic regression analysis was performed to define independent predictors for favorable and unfavorable (mRS 5-6) clinical outcomes. Results: In this study cohort, 74/191 (38.7%) octogenarians had a higher pre-stroke mRS [median, interquartile range (IQR): 2, 1-3 octogenarians vs. 0, 0-1 YP, p < 0.001] and a comparable National Institutes of Health Stroke Scale (NIHSS) before EST (median, IQR: 21, 10-38 vs. 20, 8-35 in YP, p = 0.487). They showed a comparable rate of favorable outcome (mRS 0-3, 90 days, 23.0 vs. 25.6% in YP, p = 0.725), but were less often functionally independent (mRS 0-2: 10.8% in octogenarians vs. 23.0% in YP, p = 0.049). The rate of unfavorable clinical outcome was comparable (mRS 5-6, n = 40, 54.1% in octogenarians vs. n = 64, 54.7% in YP, p = 0.831). A baseline NIHSS was an independent predictor for clinical outcome in YPs [e.g., for unfavorable clinical outcome: odds ratio (OR) 1.061, confidence interval (CI) 1.027-1.098, p = 0.005] and for favorable clinical outcome in octogenarians. Pre-stroke mRS predicted favorable outcomes in octogenarians (OR 0.54, CI 0.30-0.90, p = 0.0291), while age predicted unfavorable outcomes in YPs (OR 1.045, CI 1.011-1.086, p = 0.0137). Conclusion: Octogenarians with acute BAO eligible for EST are as likely to achieve a favorable outcome as YPs, and the rate of death or severe disability is comparable. The admission NIHSS is an independent predictor for favorable and unfavorable outcomes in YP and for favorable outcomes in octogenarians. In this study cohort, pre-stroke mRS predicted favorable outcomes in octogenarians while age predicted an unfavorable outcome in YPs. [ABSTRACT FROM AUTHOR]

The risk of severe type I diabetes mellitus in children with new coronavirus infection (COVID-19) is extremely high, which is associated with a high risk of intracranial hypertension, cerebral edema and multiple organ dysfunction syndrome. On the example of a clinical case, the features of the course of diabetic ketoacidosis and intensive care measures in children with COVID-19 were considered. The main data of the history and clinical and laboratory examination are reflected, special attention is paid to the applied aspects of therapy, it was noted that with a severe course of a new coronavirus infection and diabetic ketoacidosis, the risk of developing cerebral injury, acute kidney injury and thromboembolic complications is quite high, which may require artificial lung ventilation for the purpose of cerebral protection, renal replacement therapy and the use of anticoagulants. The new coronavirus infection is a risk factor for the severe course of diabetic ketoacidosis in children with type I diabetes, regardless of the age of the child, which is the basis for clinical alertness in order to timely identify and treat potential life-threatening complications.

Schizophrenia is a serious and complex mental disorder that not only affects one's ability to perceive reality, but also leads to emotional and behavioral disturbances. The main feature of schizophrenia is represented by the existence of psychotic symptoms, such as hallucinations and/or delusions which need immediate psychiatric care. Schizophrenia involves a significant lack of insight and non-adherence to treatment, resulting in multiple relapses and hospitalizations and consequently leading to unfavorable outcomes. This article will present the clinical case of a 54-year-old woman, diagnosed with paranoid schizophrenia, who presents herself together with her son to the ER of "Socola" Institute of Psychiatry due to an aggravation of symptoms. This case illustrates a situation that had a favorable outcome, in spite of the several challenges encountered when trying to find a suitable treatment option. Family support played an essential role in this particular matter which resulted in achieving a better level of healing and social functioning. [ABSTRACT FROM AUTHOR]

Objective: We present 45,X/46,XX at amniocentesis associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes and in different amniocenteses and a favorable fetal outcome with a normal karyotype at birth. Case report: A 35-year-old, gravida 3, para 2, woman underwent amniocentesis at 20 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 45,X[11]/46,XX[108], consistent with 9.2% mosaicism for 45,X. Prenatal ultrasound findings were unremarkable. She was referred for genetic counseling at 25 weeks of gestation, and repeat amniocentesis at 26 weeks of gestation revealed a karyotype of 45,X[4]/46,XX[16], consistent with 20% mosaicism for 45,X. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes using SurePrint G3 Unrestricted CGH ISCA v2, 8 × 60K (Agilent Technologies, Santa Clara, CA, USA) revealed arr (1–22, X) × 2, Y × 0 with no genomic imbalance. The woman was advised to continue pregnancy, and at 38 weeks of gestation, a healthy 3140-g female baby was delivered with no phenotypic abnormalities. The cord blood had a karyotype of 46,XX (40/40 cells). When follow-up at age two months, the neonate had normal development and a normal karyotype. Conclusion: Confirmation of 45,X/46,XX at amniocentesis should include conventional cytogenetic analysis and karyotyping on cultured amniocytes, and sole molecular analysis on uncultured amniocytes may miss the diagnosis of 45,X/46,XX.

Background Traumatic brain injury (TBI), which occurs commonly worldwide, is among the more costly of health and socioeconomic problems. Accurate prediction of favorable outcomes in severe TBI patients could assist with optimizing treatment procedures, predicting clinical outcomes, and result in substantial economic savings. Methods In this study, we examined the capability of a machine learning-based model in predicting “favorable” or “unfavorable” outcomes after 6 months in severe TBI patients using only parameters measured on admission. Three models were developed using logistic regression, random forest, and support vector machines trained on parameters recorded from 2,381 severe TBI patients admitted to the neuro-intensive care unit of Rajaee (Emtiaz) Hospital (Shiraz, Iran) between 2015 and 2017. Model performance was evaluated using three indices: sensitivity, specificity, and accuracy. A ten-fold cross-validation method was used to estimate these indices. Results Overall, the developed models showed excellent performance with the area under the curve around 0.81, sensitivity and specificity of around 0.78. The top-three factors important in predicting 6-month post-trauma survival status in TBI patients are “Glasgow coma scale motor response,” “pupillary reactivity,” and “age.” Conclusions Machine learning techniques might be used to predict the 6-month outcome in TBI patients using only the parameters measured on admission when the machine learning is trained using a large data set.

Objective: We present low-level mosaic trisomy 21 at amniocentesis and cordocentesis in a pregnancy associated with a favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line., Case Report: A 36-year-old, primigravid woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. This pregnancy was conceived by in vitro fertilization and embryo transfer (IVF-ET). Amniocentesis revealed a karyotype of 47,XY,+21 [3]/46,XY [17] (15% mosaicism) and simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr (21) × 2∼3 (X,Y) × 1, consistent with 24.5% mosaicism for trisomy 21. Cordocentesis performed at 21 weeks of gestation revealed a karyotype of 47,XY,+21 [3]/46,XY [37] (6% mosaicism). She was referred for genetic counseling at 31 weeks of gestation, and continuing the pregnancy was advised. The parental karyotypes and prenatal ultrasound were normal. At 37 weeks of gestation, a phenotypically normal baby was delivered with a body weight of 2900-g. The karyotypes of cord blood, umbilical cord and placenta were 47,XY,+21 [1]/46,XY [39] (2.5% mosaicism), 47,XY,+21 [10]/46,XY [30] (25% mosaicism) and 47,XY,+21 [22]/46,XY [18] (55% mosaicism), respectively. Quantitative fluorescent polymerase chain reaction (QF-PCR) analysis on the DNA extracted from umbilical cord and parental bloods excluded uniparental disomy (UPD) 21 and revealed a maternal origin of the extra chromosome 21. When follow-up at the age of 2 months, the neonate was normal in phenotype and development. The peripheral blood had a karyotype of 47,XY,+21 [1]/46,XY [39] (2.5% mosaicism), and interphase fluorescence in situ hybridization (FISH) analysis on uncultured buccal mucosal cells revealed 4.7% (5/105 cells) mosaicism for trisomy 21, compared with 0% (5/100 cells) in the normal control., Conclusion: Low-level mosaic trisomy 21 at amniocentesis and cordocentesis can be associated with favorable fetal outcome and perinatal progressive decrease of the trisomy 21 cell line., Competing Interests: Declaration of competing interest The authors have no conflicts of interest relevant to this article., (Copyright © 2024. Published by Elsevier B.V.)

Objective: We present low-level mosaic trisomy 14 at amniocentesis., Case Report: A 37-year-old, gravida 2, para 1, woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. This pregnancy was conceived by in vitro fertilization and embryo transfer (IVF-ET). Amniocentesis revealed a karyotype of 47,XX,+14 [4]/46,XX [27], consistent with 12.9% mosaicism for trisomy 14. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr (1-22, X) × 2 with no genomic imbalance. Prenatal ultrasound findings were unremarkable. She was referred for genetic counseling at 21 weeks of gestation and was offered expanded non-invasive prenatal testing (NIPT) which was positive for trisomy 14. At 24 weeks of gestation, she underwent repeat amniocentesis which revealed a karyotype of 47,XX,+14 [2]/46,XX [26], consistent with 7% mosaicism for trisomy 14. The parental karyotypes were normal. Simultaneous aCGH analysis on the DNA extracted from uncultured amniocytes revealed no genomic imbalance. Polymorphic marker analysis excluded uniparental disomy (UPD) 14. Interphase fluorescence in situ hybridization (FISH) analysis on 104 uncultured amniocytes detected no trisomy 14 cell. At 35 weeks of gestation, a 2315-g phenotypically normal baby was delivered. The umbilical cord and placenta had the karyotype of 46, XX (40/40 cells). aCGH analysis on the DNA extracted from peripheral blood and buccal mucosal cells at the age of three months revealed no genomic imbalance. The neonate was normal in phenotype and development during postnatal follow-ups., Conclusions: Low-level mosaic trisomy 14 at amniocentesis can be associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 14 cell line and a favorable fetal outcome., Competing Interests: Declaration of competing interest The author has no conflicts of interest relevant to this article., (Copyright © 2024. Published by Elsevier B.V.)

Background: This study aimed to investigate the association between the hyperdense basilar artery sign (HBAS) on non-enhanced computed tomography (CT) and clinical outcomes in patients with acute basilar artery occlusion (BAO) who underwent endovascular treatment (EVT). Methods: Eligible patients who underwent EVT due to acute BAO between January 2014 and May 2019 were divided into two groups based on HBAS. HBAS was assessed by two neuroradiologists using five grades on nonenhanced CT. The primary outcome was a favorable functional outcome (defined as a modified Rankin Scale [mRS] of 0–3) at 90 days. Secondary outcomes included successful recanalization and mortality within 90 days. Results: Among 829 patients with BAO as assessed with CT angiography, magnetic resonance angiography, or digital subtraction angiography, 643 patients were treated with EVT. Of these, 51.32% (330/643) had HBAS. Patients with HBAS were older and had more severe neurological deficits and a higher frequency of atrial fibrillation than those without HBAS. There was no significant difference in favorable outcome (adjusted odds ratio [aOR]: 1.354, 95% confidence interval [CI]: 0.906–2.024; p = 0.14), successful recanalization (aOR: 0.926, 95% CI: 0.616-−1.393; p = 0.71), and mortality (aOR: 1.193, 95% CI: 0.839–1.695; p = 0.33) between patients with or without HBAS. Subgroup analysis showed that the HBAS predicted a favorable outcome in patients aged <60 years (aOR: 2.574, 95% CI: 1.234–5.368; p = 0.01) and patients with vertebral artery-V4 segment occlusion (aOR: 3.738, 95% CI: 1.212–11.530; p = 0.02). In patients with HBAS, the baseline National Institutes of Health Stroke Scale (NIHSS) score, posterior circulation–Acute Stroke Prognosis Early Computed Tomography Score (pc-ASPECTS), and stent retriever were associated with successful recanalization. Conclusions: Our study did not find a significant association between HBAS and favorable outcomes and successful recanalization in patients with BAO who underwent EVT. Moreover, large prospective studies are warranted to further investigate this relationship. [ABSTRACT FROM AUTHOR]

BackgroundThis study aimed to investigate the association between the hyperdense basilar artery sign (HBAS) on non-enhanced computed tomography (CT) and clinical outcomes in patients with acute basilar artery occlusion (BAO) who underwent endovascular treatment (EVT).MethodsEligible patients who underwent EVT due to acute BAO between January 2014 and May 2019 were divided into two groups based on HBAS. HBAS was assessed by two neuroradiologists using five grades on nonenhanced CT. The primary outcome was a favorable functional outcome (defined as a modified Rankin Scale [mRS] of 0–3) at 90 days. Secondary outcomes included successful recanalization and mortality within 90 days.ResultsAmong 829 patients with BAO as assessed with CT angiography, magnetic resonance angiography, or digital subtraction angiography, 643 patients were treated with EVT. Of these, 51.32% (330/643) had HBAS. Patients with HBAS were older and had more severe neurological deficits and a higher frequency of atrial fibrillation than those without HBAS. There was no significant difference in favorable outcome (adjusted odds ratio [aOR]: 1.354, 95% confidence interval [CI]: 0.906–2.024; p = 0.14), successful recanalization (aOR: 0.926, 95% CI: 0.616-−1.393; p = 0.71), and mortality (aOR: 1.193, 95% CI: 0.839–1.695; p = 0.33) between patients with or without HBAS. Subgroup analysis showed that the HBAS predicted a favorable outcome in patients aged

Background: Traumatic brain injury (TBI), which occurs commonly worldwide, is among the more costly of health and socioeconomic problems. Accurate prediction of favorable outcomes in severe TBI patients could assist with optimizing treatment procedures, predicting clinical outcomes, and result in substantial economic savings. Methods: In this study, we examined the capability of a machine learning-based model in predicting "favorable" or "unfavorable" outcomes after 6 months in severe TBI patients using only parameters measured on admission. Three models were developed using logistic regression, random forest, and support vector machines trained on parameters recorded from 2,381 severe TBI patients admitted to the neuro-intensive care unit of Rajaee (Emtiaz) Hospital (Shiraz, Iran) between 2015 and 2017. Model performance was evaluated using three indices: sensitivity, specificity, and accuracy. A ten-fold cross-validation method was used to estimate these indices. Results: Overall, the developed models showed excellent performance with the area under the curve around 0.81, sensitivity and specificity of around 0.78. The top-three factors important in predicting 6-month post-trauma survival status in TBI patients are "Glasgow coma scale motor response," "pupillary reactivity," and "age." Conclusions: Machine learning techniques might be used to predict the 6-month outcome in TBI patients using only the parameters measured on admission when the machine learning is trained using a large data set. [ABSTRACT FROM AUTHOR]

The risk of a severe course of new coronavirus infection (COVID-19) due to the development of acute respiratory distress syndrome is extremely high, which is especially true for patients with comorbidities. The aim of the study is to demonstrate the peculiarities of the course and intensive care measures in new coronavirus infection COVID-19 in children with comorbidities. Patients and methods: On the example of clinical cases, the characteristics of the course of a new coronavirus infection of COVID-19 in children with systemic lupus erythematosus and bronchopulmonary dysplasia are considered. Results: The main data from the history and clinical laboratory examination are reflected, which made it possible to identify a cytokine storm in a timely manner, a high risk of adverse course and begin timely specific pathogenetic therapy, including immunoglobulins for intravenous administration, hydroxychloroquine, ritonavir in combination with lopinavir, azithromycin and dexamethasone. Particular attention is paid to the need to limit infusion therapy, maintain a negative water balance and optimal blood oxygen capacity, ambiguity of opinions on the need for routine use of albumin and dexamethasone solutions in patients with COVID-19 has been demonstrated. Conclusion: Children with comorbidities are characterized by a severe course of a new coronavirus infection COVID-19, which requires timely pathogenetic therapy taking into account the individual characteristics of the patient.

Abstract Background Canonical wingless-type (Wnt) signaling is a crucial pathway involved in normal hematopoiesis and the self-renewal process of hematopoietic stem cells. Deregulation of this pathway has been associated with different subtypes of leukemia. Lymphoid enhancer-binding factor 1 (LEF-1) is a major transcription factor of this pathway and plays a pivotal role in lymphoid differentiation and granulopoiesis. High LEF-1 expression has been reported as a prognostic marker in several types of adult hematological malignancies. We aimed to assess the prognostic utility of LEF-1 expression in adult de novo acute myeloid leukemia (AML) Egyptian patients in continuation of our previous work. LEF-1 expression was analyzed by real-time polymerase chain reaction (PCR) in 30 adults with newly diagnosed AML and remeasured at day 28 after induction therapy with the assessment of remission status. Results Patients were classified according to median expression level into high and low LEF-1 expression groups. LEF-1 levels were dramatically decreased following successful induction therapy. Also, high LEF-1 expression patients had a better response to therapy with better overall survival. ROC curve analysis of LEF-1 expression yielded a cutoff value of < 10.11 log10 (sensitivity of 90.48% and specificity of 100%) for predicting poor outcome. Univariate logistic regression analysis showed that for every log10 increase in the LEF-1 expression level, the chance of the patient to achieve hematological remission was increased by 2.29 folds. Conclusion Our study showed preliminary results that overexpression of LEF-1 is a favorable prognostic factor in newly diagnosed adult AML patients. The prognostic value of LEF-1 could suggest its utility for further risk classifications of AML and potentiality for being a target for therapy.

Abstract Background Activated eosinophils have been deemed to affect carcinogenesis and tumor progression via various mechanisms in tumor microenvironment. However, the prognostic role of tumor-associated tissue eosinophilia (TATE) in human cancers remains controversial. Therefore, we conducted this meta-analysis to better comprehend the association between TATE and clinical outcomes of patients. Methods We searched PubMed, Embase and EBSCO to determine the researches assessing the association between TATE and overall survival (OS) and/or disease-free survival (DFS) in patients with cancer, then combined relevant data into hazard ratios (HRs) or odds ratio (OR) for OS, DFS and clinicopathological features including lymph node metastasis etc. with STATA 12.0. Results Twenty six researches with 6384 patients were included in this meta-analysis. We found that the presence of TATE was significantly associated with improved OS, but not with DFS in all types of cancers. In stratified analyses based on cancer types, pooled results manifested that the infiltration of eosinophils was remarkably associated with better OS in esophageal carcinoma and colorectal cancer. In addition, TATE significantly inversely correlated with lymph node metastasis, tumor stage and lymphatic invasion of cancer. Conclusion TATE promotes survival in cancer patients, suggesting that it is a valuable prognostic biomarker and clinical application of biological response modifiers or agonists promoting TATE may be the novel therapeutic strategy for patients.

We report a case of rhabdoid tumor predisposition syndrome with a renal tumor developing 10 years after a brain tumor, which demonstrated an unexpectedly favorable outcome. A 2‐year‐old boy underwent gross total resection of a brain tumor located in the fourth ventricle, and received adjuvant chemotherapy and radiotherapy. At the age of 11 years, a renal tumor was found and nephrectomy was performed. He is currently alive without evidence of disease over 2 years without postoperative therapy. Histologically, rhabdoid cells were observed in both brain and renal tumors. Loss of SMARCB1 (also known as INI1) expression was found in the nucleus of both tumor cells. Genetic testing revealed pathogenic variants of SMARCB1 exon 5 in the renal tumor and SMARCB1 exon 9 in the brain tumor. In addition, heterozygous deletion of 22q11.21‐q11.23 containing the SMARCB1 locus was shared by both tumors and this deletion was identified in normal peripheral blood. Considering the histopathological and genetic findings, our case was considered to be rhabdoid tumor predisposition syndrome with atypical teratoid/rhabdoid tumor and late‐onset rhabdoid tumor of the kidney. [ABSTRACT FROM AUTHOR]

Objectives: French Guiana also suffered concrete epidemiological consequences of the SARS-CoV2 epidemic. These regions are home to a large number of sickle cell patients who are at risk of developing severe forms of COVID-19. This study aimed to describe the characteristics and prognosis of patients with sickle disease infected with SARS-CoV2 during the first and second epidemic waves of 2020 in French Guiana., Design: We conducted a multicenter, retrospective cohort study that included sickle cell patients followed up in French Guiana., Results: Among the 79 patients infected with SARS-CoV2, there were 26 children <18 years. Forty-two patients were hospitalized and 37 were outpatients. Respiratory illness (38 %), vaso-occlusive crises (18 %), and acute chest syndrome (8 %) were the main causes of hospitalization. There were two cases of pulmonary embolism and one case of deep limb thrombosis. Seven patients were transferred to the ICU. Of these, three received mechanical ventilation, and two died. The deceased patients had the SS phenotype (a 16-year-old boy and a 32-year-old man), both of whom exhibited severe pneumonitis complicated by COVID-19., Conclusion: Despite the two deaths, the overall outcome was favorable., Competing Interests: The authors declare that they have no competing interests., (© 2024 The Authors.)

Objective: We present low-level mosaic trisomy 21 at amniocentesis in a pregnancy with a favorable fetal outcome., Case Report: A 38-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+21[4]/46,XY[34]. Prenatal ultrasound findings were normal. At 27 weeks of gestation, she was referred for genetic counseling, and the cultured amniocytes had a karyotype of 47,XY,+21[2]/46,XY[26]. Quantitative fluorescent polymerase chain reaction (QF-PCR) analysis on the DNA extracted from uncultured amniocytes and parental bloods excluded uniparental disomy (UPD) 21. Interphase fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes revealed 30% (30/100 cells) mosaicism for trisomy 21. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed the result of arr 21q11.2q22.3 × 2.25, consistent with 20%-30% mosaicism for trisomy 21. The parental karyotypes were normal. The woman was advised to continue the pregnancy, and a 3510-g phenotypically normal male baby was delivered at 39 weeks of gestation. Cytogenetic analysis of the cord blood, umbilical cord and placenta revealed the karyotypes of 47,XY,+21[1]/46,XY[39], 47,XY,+21[2]/46,XY[38] and 46,XY in 40/40 cells, respectively. When follow-up at age 1 year and 2 months, the neonate was normal in phenotype and development. The peripheral blood had a karyotype of 46,XY in 40/40 cells, and interphase FISH analysis on uncultured buccal mucosal cells showed 6.4% (7/109 cells) mosaicism for trisomy 21., Conclusion: Low-level mosaic trisomy 21 at amniocentesis can be associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome., (Copyright © 2024. Published by Elsevier B.V.)

Abstract Background Large hemispheric infarction (LHI) is a devastating condition with high mortality and poor functional outcome in most conservatively treated patients. The purpose of this study was to explore factors associated with favorable outcome in patients with LHI. Methods We prospectively enrolled consecutive patients with LHI. Favorable outcome was defined as a modified Rankin Scale (mRS) score of 0 to 3 at 90 days. Multivariate logistic regression analysis was employed to identify the independent factors associated with favorable outcome. Results Two hundred fifty-six cases with LHI were identified: 41 (16.0%) died during hospitalization, 94 (36.7%) died at 3 month, and 113 (44.1%) survived with favorable outcome at day 90. Compared with patients with unfavorable outcome, the favorable cases were younger (55.8 ± 14.7 vs. 66.2 ± 14.1), had less history of hypertension (38.9% vs. 59.3%), lower baseline NIHSS score (median NIHSS score 11 vs. 17), lower blood pressure on admission (systolic 134.7 ± 24.9 vs. 145.1 ± 26.1 mmHg; diastolic 80.2 ± 14.9 vs. 86.9 ± 16.2 mmHg; respectively), lower level of baseline serum glucose (7.2 ± 3.3 vs. 8.2 ± 3.3 mmol/L), a lower frequency of stroke-related complications (55.8% vs. 91.4%), more use of antiplatelets (93.8% vs. 57.1%) and statins (46.9% vs. 25.7%) in the acute phase of stroke, but less use of osmotic agents (69.9% vs. 89.3%), mechanical ventilation (1.8% vs. 20.0%) or decompressive hemicraniectomy (1.8% vs. 15.7%). Multivariable analysis identified the following factors associated with favorable outcome: age (odds ratio, OR 0.95, 95% confidence interval [CI] 0.92–0.98, p < 0.001), baseline NIHSS score (OR 0.90, 95% CI 0.84–0.96, p = 0.002), statins used in acute phase (OR 2.49, 95% CI 1.10–5.65, p = 0.029), brain edema (OR 0.05, 95% CI 0.01–0.21, p < 0.001) and pneumonia (OR 0.42, 95% CI 0.19–0.93, p = 0.032). Conclusion More than one third of patients with LHI have relatively favorable clinical outcomes at 90 days. Younger age, lower baseline NIHSS score, absence of brain edema and pneumonia, and statins used in the acute phase were associated with favorable outcome of patients with LHI at 90 days.

The efficacy of cellular immunotherapy plus chemotherapy in treatment of gastric cancer (GC) remains inconsistent even controversial. Hence, we performed a meta-analysis to better comprehend the clinical value of cellular immunotherapy plus chemotherapy for GC patients. We searched PubMed, Embase and EBSCO databases to identify the studies evaluating the association of cellular immunotherapy plus chemotherapy and overall survival (OS) and/or disease-free survival (DFS) in patients with GC, and then combined relevant data into hazard ratios (HRs) for OS, DFS and clinicopathological features such as TNM stage, etc. with STATA 12.0. Eleven studies with 1244 patients were included in this meta-analysis. We found that cellular immunotherapy plus chemotherapy remarkably improved overall survival (OS) and diseases-free survival (DFS) as compared to the chemotherapy for GC patients. In subgroup analyses, pooled data showed that the combined therapy was significantly associated with better 3-year and 5-year survival rate, but not with 1-year survival rate of patients; the application of cellular immunotherapy based on either CIK or DC-CIK cells could enhance survival as well as NK, γδT and CIK cells-based immunotherapy. More importantly, the addition of cellular immunotherapy considerably improved OS and DFS only in patients with stage III rather than stage II. In addition, we also discovered that the combined therapy did not cause intolerable side effects to patients. Cellular immunotherapy plus chemotherapy ameliorates survival in GC, especially in patients with stage III, implicating that it is a valuable therapeutic strategy for these patients. [ABSTRACT FROM AUTHOR]

Background: Canonical wingless-type (Wnt) signaling is a crucial pathway involved in normal hematopoiesis and the self-renewal process of hematopoietic stem cells. Deregulation of this pathway has been associated with different subtypes of leukemia. Lymphoid enhancer-binding factor 1 (LEF-1) is a major transcription factor of this pathway and plays a pivotal role in lymphoid differentiation and granulopoiesis. High LEF-1 expression has been reported as a prognostic marker in several types of adult hematological malignancies. We aimed to assess the prognostic utility of LEF-1 expression in adult de novo acute myeloid leukemia (AML) Egyptian patients in continuation of our previous work. LEF-1 expression was analyzed by real-time polymerase chain reaction (PCR) in 30 adults with newly diagnosed AML and remeasured at day 28 after induction therapy with the assessment of remission status. Results: Patients were classified according to median expression level into high and low LEF-1 expression groups. LEF-1 levels were dramatically decreased following successful induction therapy. Also, high LEF-1 expression patients had a better response to therapy with better overall survival. ROC curve analysis of LEF-1 expression yielded a cutoff value of < 10.11 log10 (sensitivity of 90.48% and specificity of 100%) for predicting poor outcome. Univariate logistic regression analysis showed that for every log10 increase in the LEF-1 expression level, the chance of the patient to achieve hematological remission was increased by 2.29 folds. Conclusion: Our study showed preliminary results that overexpression of LEF-1 is a favorable prognostic factor in newly diagnosed adult AML patients. The prognostic value of LEF-1 could suggest its utility for further risk classifications of AML and potentiality for being a target for therapy. [ABSTRACT FROM AUTHOR]

Background: Activated eosinophils have been deemed to affect carcinogenesis and tumor progression via various mechanisms in tumor microenvironment. However, the prognostic role of tumor-associated tissue eosinophilia (TATE) in human cancers remains controversial. Therefore, we conducted this meta-analysis to better comprehend the association between TATE and clinical outcomes of patients.Methods: We searched PubMed, Embase and EBSCO to determine the researches assessing the association between TATE and overall survival (OS) and/or disease-free survival (DFS) in patients with cancer, then combined relevant data into hazard ratios (HRs) or odds ratio (OR) for OS, DFS and clinicopathological features including lymph node metastasis etc. with STATA 12.0.Results: Twenty six researches with 6384 patients were included in this meta-analysis. We found that the presence of TATE was significantly associated with improved OS, but not with DFS in all types of cancers. In stratified analyses based on cancer types, pooled results manifested that the infiltration of eosinophils was remarkably associated with better OS in esophageal carcinoma and colorectal cancer. In addition, TATE significantly inversely correlated with lymph node metastasis, tumor stage and lymphatic invasion of cancer.Conclusion: TATE promotes survival in cancer patients, suggesting that it is a valuable prognostic biomarker and clinical application of biological response modifiers or agonists promoting TATE may be the novel therapeutic strategy for patients. [ABSTRACT FROM AUTHOR]

Background and Objective: Galectin-9 (Gal-9) is one of the galectin family members which are known as proteins with β-galactoside-binding affinity. Accumulative evidence suggest that Gal-9 plays multifaceted roles in tumor biology. However, the prognostic significance of Gal-9 in solid cancer patients remains controversial. The objective of the study was to clarify the prognostic significance of Gal-9 in solid tumors via meta-analysis.Methods: We searched PubMed, Embase and the Cochrane library for studies that report the correlation between Gal-9 expression and prognosis or clinicopathological parameters in solid cancer patients from inception to October 2017, with no language restriction. We calculated pooled hazard ratio (HR) and 95% confidence interval (CI) to investigate the prognostic significance of Gal-9 expression in solid tumors. We also calculated Odds ratio (OR) to explore the association between Gal-9 expression and clinicopathological features.Results: We included Fourteen studies with 2326 patients in our meta-analysis. The synthetic results revealed that high Gal-9 expression indicated improved overall survival (OS; HR = 0.70, 95% CI = 0.51–0.71, P = 0.006) but had no correlation with disease-free survival (DFS)/recurrence-free survival (RFS) (HR = 0.85, 95% CI = 0.51–1.41, P = 0.527) in solid tumors. In stratified analyses, high Gal-9 expression was significantly correlated with improved OS in hepatocellular carcinoma and colon cancer and with improved DFS/RFS in gastric cancer and non-small cell lung cancer. In addition, ethnicity and the method of data extraction didn’t affect the positive prognostic values of high Gal-9 expression. Moreover, high Gal-9 expression was significantly correlated with a smaller depth of invasion (TI/TII vs. TIII/TIV, OR = 2.80, 95% CI = 1.97–3.96, P < 0.001), an earlier histopathological stage (I/II vs. III/IV, OR = 3.00, 95% CI = 2.04–4.42, P < 0.001), negative lymph node metastasis (Presence vs. Absence, OR = 0.47, 95% CI = 0.25–0.89, P = 0.020) and negative distal tumor metastasis (Presence vs. Absence, OR = 13.85, 95% CI = 3.50–54.76, P < 0.001).Conclusion: Gal-9 expression indicates beneficial outcome in patients with solid tumors and is correlated with the pathogenesis of solid tumors. Gal-9 may serve as a prognostic biomarker and an emerging therapeutic target against solid tumors.

Background: A severe, near-fatal liver failure due to a concomitant acute HBV-HCV infection has been controlled and later fully resolved from a clinical and a virological point of view, by a prompt and appropriate antiviral treatment. [ABSTRACT FROM AUTHOR]