scholarly journals SNP Microarray in FISH Negative Clinically Suspected 22q11.2 Microdeletion Syndrome

Scientifica ◽  
2016 ◽  
Vol 2016 ◽  
pp. 1-18 ◽  
Author(s):  
Ashutosh Halder ◽  
Manish Jain ◽  
Amanpreet Kaur Kalsi
Keyword(s):  
Intensive Care ◽  
Chromosomal Abnormalities ◽  
Uniparental Disomy ◽  
Fish Analysis ◽  
Microdeletion Syndrome ◽  
Clinical Criteria ◽  
Snp Microarray ◽  
Pathogenic Cnvs ◽  
22Q11.2 Microdeletion

The present study evaluated the role of SNP microarray in 101 cases of clinically suspected FISH negative (noninformative/normal) 22q11.2 microdeletion syndrome. SNP microarray was carried out using 300 K HumanCytoSNP-12 BeadChip array or CytoScan 750 K array. SNP microarray identified 8 cases of 22q11.2 microdeletions and/or microduplications in addition to cases of chromosomal abnormalities and other pathogenic/likely pathogenic CNVs. Clinically suspected specific deletions (22q11.2) were detectable in approximately 8% of cases by SNP microarray, mostly from FISH noninformative cases. This study also identified several LOH/AOH loci with known and well-defined UPD (uniparental disomy) disorders. In conclusion, this study suggests more strict clinical criteria for FISH analysis. However, if clinical criteria are few or doubtful, in particular newborn/neonate in intensive care, SNP microarray should be the first screening test to be ordered. FISH is ideal test for detecting mosaicism, screening family members, and prenatal diagnosis in proven families.

scholarly journals Genetic Abnormalities in ALL

2021 ◽  
Author(s):  
Bendari Mounia ◽  
Sofia Sraidi ◽  
Nisrine Khoubila
Keyword(s):  
Chromosomal Abnormalities ◽  
Lymphoblastic Leukemia ◽  
World Health ◽  
Fish Analysis ◽  
Genetic Modifications ◽  
Genetic Abnormalities ◽  
The World ◽  
Therapeutic Protocols ◽  
Health Organization

Acute lymphoblastic leukemia (ALL), can be defined by a family of genetically heterogeneous lymphoid neoplasms derived from B- and T-lymphoid progenitors. ALL constitutes the most common childhood cancer, due to an overproduction of immature lymphoid hematopoietic cells. Genetic analyzes currently provides important information for classifying patients into prognostic groups, genetic analysis also helps to understand the mechanisms of relapse, pharmacogenetics and the development of new potential therapeutic targets, which should help to further improve the results of leukemia. In fact, the new techniques in molecular cytogenetic permits to identify new cryptic abnormalities, these discoveries have led to the development of new therapeutic protocols. The role of cytogenetic analysis is crucial on ALL patient’s management. Karyotyping coupled with FISH analysis identifies recurrent chromosomal abnormalities in ALL, many of these abnormalities have prognostic and treatment impact. This chapter summarizes chromosomal abnormalities that are common and classify ALL according to the World Health Organization (WHO) classifications (2016 revision). We will present the main genetic modifications recently identified as well as the sequence mutations which have helped in the elucidation of the pathogenesis of ALL.

Exercise in intensive care units, safety and hemodynamic monitoring

2020 ◽  
Vol 19 (1) ◽  
pp. 3
Author(s):  
Giulliano Gardenghi
Keyword(s):  
Intensive Care ◽  
Intensive Care Units ◽  
Hemodynamic Monitoring ◽  
Artificial Respiration ◽  
Exercise Physiology ◽  
Ventilatory Support ◽  
Early Mobilization ◽  
Cycle Ergometer ◽  
Search Terms

Introduction: Patients in the intensive care unit (ICU) have several deleterious effects of immobilization, including weakness acquired in the ICU. Exercise appears as an alternative for early mobilization in these patients. Objective: This work aims to highlight the hemodynamic repercussions and the applicability of exercise in the ICU. Methods: An integrative literature review was carried out, with articles published between 2010 and 2018, in the Lilacs, PubMed and Scielo databases, using the following search terms: exercise, cycle ergometer, intensive care units, early mobilization, mechanical ventilation, artificial respiration. Results: 13 articles were included, addressing hemodynamic monitoring and the role of exercise as early mobilization, with or without ventilatory support. The exercise sessions were feasible and safe within the ICU environment. Conclusion: Physical exercise can be performed safely in an ICU environment, if respecting a series of criteria such as those presented here. It is important that the assistant professional seeks to prescribe interventions based on Exercise Physiology that can positively intervene in the functional prognosis in critically ill patients.Keywords: exercise, intensive care units, patient safety.

Role of Sildenafil in the Treatment of Persistent Pulmonary Hypertension of Newborn (PPHN) - Should it Be Withdrawn from Market of Bangladesh due to Threat of being Misuses

2020 ◽  
Vol 35 (2) ◽  
pp. 100-104
Author(s):  
Maksudur Rahman ◽  
Mohammad Abdullah Al Mamun ◽  
MAK Azad Chowdhury ◽  
Abu Sayeed Munsi
Keyword(s):  
Intensive Care Unit ◽  
Intensive Care ◽  
Neonatal Intensive Care ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cardiac Intensive Care Unit ◽  
Cross Sectional ◽  
Cardiac Intensive Care ◽  
Hospital Protocol

Background: Recently it has been apprehended that sildenafil, a drug which has been successfully using in the treatment of PPHN and erectile dysfunction in adult, is going to be withdrawn from the market of Bangladesh due to threat of its misuses. Objective: The aim of this study was to see the extent of uses of sildenafil in the treatment of PPHN and importance of availability of this drugs in the market inspite of its probable misuses. Methods: This cross sectional study was conducted in neonatal intensive care unit (NICU), special baby care unit (SCABU) and cardiac intensive care unit (CICU) of Dhaka Shishu (Children) Hospital from June, 2017 to May 2018. Neonates with PPHN were enrolled in the study. All cases were treated with oral sildenefil for PPHN along with others management according to hospital protocol. Data along with other parameters were collected and analyzed. Results: Total 320 patients with suspected PPHN were admitted during the study period. Among them 92 (29%) cases had PPHN. Male were 49(53 %) cases and female were 43(47%) cases. Mean age at hospital admission was 29.7±13.4 hours. Based on echocardiography,13(14%) cases had mild, 38 (41%) cases moderate and 41(45%) cases severe PPHN. Mean duration of sildenafil therapy was 11.9±7.1 days. Improved from PPHN were 83 (90%) cases. Mortality was 10% (9). Conclusion: In this study it was found that the incidence of PPHN is 29% among the suspected newborns. Sildenafil is successfull in improving the oxygenation of PPHN and to decrease the mortality of neonates. DS (Child) H J 2019; 35(2) : 100-104

scholarly journals How reliable is procalcitonin as an inflammatory marker?1)

2012 ◽  
Vol 35 (6) ◽  
pp. ---
Author(s):  
Katharina Biller ◽  
Peter Fae ◽  
Reinhard Germann ◽  
Autar K. Walli ◽  
Peter Fraunberger
Keyword(s):  
Intensive Care ◽  
Diagnostic Tool ◽  
Plasma Levels ◽  
Bacterial Infections ◽  
Respiratory Tract Infections ◽  
Inflammatory Marker ◽  
Antibiotic Use ◽  
Intensive Care Patients ◽  
Tract Infections

Abstract The role of procalcitonin (PCT) plasma levels as a diagnostic tool for intensive care patients has been intensively investigated during the past years. In particular for recognition of bacterial infections, PCT levels have been shown to be superior to other clinical and biochemical markers. Furthermore, some very recent studies show that in patients with lower respiratory tract infections PCT guided antibiotic therapy reduces antibiotic use and thereby may also reduce duration of stay of patients in hospital and thus cut hospitalisation costs. However, various studies indicate that the value of PCT as a prognostic marker is limited because of false positive or negative values. Despite these limitations PCT plasma levels are currently measured in intensive care units. The present study summarises the possible clinical uses of this laboratory marker as a diagnostic tool for the assessment of critically ill patients.

scholarly journals Mice with mutations in Trpm1, a gene in the locus of 15q13.3 microdeletion syndrome, display pronounced hyperactivity and decreased anxiety-like behavior

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Tesshu Hori ◽  
Shohei Ikuta ◽  
Satoko Hattori ◽  
Keizo Takao ◽  
Tsuyoshi Miyakawa ◽  
...  
Keyword(s):  
Visual Impairment ◽  
Wide Spectrum ◽  
Genetic Disorder ◽  
Mutant Mice ◽  
Chromosome 15 ◽  
Microdeletion Syndrome ◽  
Visual Transduction ◽  
The Central Nervous System ◽  
Null Mutant Mice

AbstractThe 15q13.3 microdeletion syndrome is a genetic disorder characterized by a wide spectrum of psychiatric disorders that is caused by the deletion of a region containing 7 genes on chromosome 15 (MTMR10, FAN1, TRPM1, MIR211, KLF13, OTUD7A, and CHRNA7). The contribution of each gene in this syndrome has been studied using mutant mouse models, but no single mouse model recapitulates the whole spectrum of human 15q13.3 microdeletion syndrome. The behavior of Trpm1−/− mice has not been investigated in relation to 15q13.3 microdeletion syndrome due to the visual impairment in these mice, which may confound the results of behavioral tests involving vision. We were able to perform a comprehensive behavioral test battery using Trpm1 null mutant mice to investigate the role of Trpm1, which is thought to be expressed solely in the retina, in the central nervous system and to examine the relationship between TRPM1 and 15q13.3 microdeletion syndrome. Our data demonstrate that Trpm1−/− mice exhibit abnormal behaviors that may explain some phenotypes of 15q13.3 microdeletion syndrome, including reduced anxiety-like behavior, abnormal social interaction, attenuated fear memory, and the most prominent phenotype of Trpm1 mutant mice, hyperactivity. While the ON visual transduction pathway is impaired in Trpm1−/− mice, we did not detect compensatory high sensitivities for other sensory modalities. The pathway for visual impairment is the same between Trpm1−/− mice and mGluR6−/− mice, but hyperlocomotor activity has not been reported in mGluR6−/− mice. These data suggest that the phenotype of Trpm1−/− mice extends beyond that expected from visual impairment alone. Here, we provide the first evidence associating TRPM1 with impairment of cognitive function similar to that observed in phenotypes of 15q13.3 microdeletion syndrome.

Sa107 THE ROLE OF FECAL OCCULT BLOOD TEST IN THE EVALUATION OF ANEMIA IN THE INTENSIVE-CARE UNIT: A RETROSPECTIVE STUDY ASSESSING THE CLINICAL UTILITY OF THE TEST

2021 ◽  
Vol 160 (6) ◽  
pp. S-423-S-424
Author(s):  
Thanita Thongtan ◽  
Anasua Deb ◽  
Ashley Maveddat ◽  
Paibul Suriyawongpaisal ◽  
Passisd Laoveeravat ◽  
...  
Keyword(s):  
Intensive Care Unit ◽  
Intensive Care ◽  
Blood Test ◽  
Clinical Utility ◽  
Fecal Occult Blood Test ◽  
Occult Blood ◽  
Fecal Occult Blood ◽  
Occult Blood Test ◽  
Fecal Occult

scholarly journals Otolaryngology activity in two hospitals in northern and central Italy differently affected by COVID-19 pandemic

2021 ◽  
Vol 104 (2) ◽  
pp. 003685042199848
Author(s):  
Antonio Minni ◽  
Francesco Pilolli ◽  
Massimo Ralli ◽  
Niccolò Mevio ◽  
Luca Roncoroni ◽  
...  
Keyword(s):  
Intensive Care ◽  
Severe Acute Respiratory Syndrome ◽  
Intensive Care Units ◽  
Healthcare System ◽  
Central Italy ◽  
Northern Italy ◽  
Public Hospitals ◽  
Geographical Differences ◽  
Italian Regions

The Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) pandemic had a significant impact on the Italian healthcare system, although geographical differences were present; regions in northern Italy have been the most severely affected while regions in the south of the country were relatively spared. Otolaryngologists were actively involved in the management of the pandemic. In this work, we analyzed and compared the otolaryngology surgical activity performed during the pandemic in two large public hospitals located in different Italian regions. In northern Italy, otolaryngologists were mainly involved in performing surgical tracheotomies in COVID-19 positive patients and contributed to the management of these patients in intensive care units. In central Italy, where the burden of the infection was significantly lower, otolaryngologists focused on diagnosis and treatment of emergency and oncology patients. This analysis confirms the important role of the otolaryngology specialists during the pandemic, but also highlights specific differences between two large hospitals in different Italian regions.

scholarly journals Continuous EEG Monitoring in the Intensive Care Unit

1998 ◽  
Vol 25 (S1) ◽  
pp. S12-S15 ◽  
Author(s):  
John Kay
Keyword(s):  
Intensive Care Unit ◽  
Intensive Care ◽  
Intensive Care Units ◽  
Eeg Monitoring ◽  
General Icus ◽  
Continuous Eeg ◽  
Nonconvulsive Seizures ◽  
Continuous Eeg Monitoring ◽  
Clinical Problems

AbstractBackground:Electroencephalography (EEG) is playing an increasingly important role in the management of comatose patients in the intensive care unit.Methods:The techniques of EEG monitoring are reviewed. Initially, standard, discontinuous recordings were performed in intensive care units (ICUs). Later, continuous displays of “raw EEG” (CEEG) were used. More recently, the addition of quantitative techniques allowed for more effective reading.Results and Conclusions:Applications of continuous EEG to clinical problems are discussed. The most useful role of CEEG appears to be the detection and management of nonconvulsive seizures. There is a need for controlled studies to assess the role for CEEG in neuro-ICUs and general ICUs.

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