[GENOMIC COUNSELING - CHALLENGES AND OPPORTUNITIES].

Medical genetics is a field that is continually evolving. In addition to enabling the discovery and understanding of the mechanisms underlying many diseases, the decoding of the human genome and swiftly advancing technology have also made it possible to integrate medical genetics into new clinical fields and acknowledge it as a significant profession across all clinical specialties. For genetic teams, these changes present numerous difficulties, particularly in the specific context of genetic counseling.

Chest computed tomography in COVID-19 pneumonia: a retrospective study of 155 patients at a university hospital in Rio de Janeiro, Brazil.

Objective: To define diagnostic criteria for coronavirus disease 2019 (COVID-19) on computed tomography (CT); to study the correlation between CT and polymerase chain reaction (PCR) testing for infection with severe acute respiratory syndrome coronavirus 2; and to determine whether the extent of parenchymal involvement and the need for mechanical ventilation are associated with the CT findings and clinical characteristics of patients with COVID-19.

Materials And Methods: This was a retrospective study of 155 patients with COVID-19 treated between March and May 2020. We attempted to determine whether the CT findings correlated with age and clinical variables, as well as whether the need for mechanical ventilation correlated with the extent of the pulmonary involvement.

Diaphragm ultrasonography in adults with sickle cell anemia: evaluation of morphological and functional aspects.

Objectives: To assess morphological and functional aspects of the diaphragm by ultrasonography (US) in adults with sickle cell anemia (SCA) and evaluate if the diaphragmatic musculature can play a role in changes found in pulmonary function tests (PFTs) of these patients.

Methods: This is a cross-sectional observational and single-center study involving 40 adults with SCA who underwent diaphragm US and PFTs with a maximum of 1 month between the two tests. Diaphragm US was performed in B and M modes, and echogenicity, thickness and movement of the muscle was assessed in different respiratory maneuvers.

Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center.

Purpose: Increased implementation of complex genetic technologies in clinical practice emphasizes the urgency of genomic literacy and proficiency for medical professionals. We evaluated our genomic education model.

Methods: We assessed the 5-day, extended format program, encompassing lectures, videos, interactive tests, practice cases, and clinical exercises.

B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature.

A congenital disorder of glycosylation due to biallelic mutations in B4GALT1 has been previously reported in only three patients with two different mutations. Through homozygosity mapping followed by segregation analysis in an extended pedigree, we identified three additional patients homozygous for a novel mutation in B4GALT1, expanding the phenotypic spectrum of the disease. The patients showed a uniform clinical presentation with intellectual disability, marked pancytopenia requiring chronic management, and novel features including pulmonary hypertension and nephrotic syndrome.

Chromosomal microarray findings in pregnancies with an isolated pelvic kidney.

Objective To examine the risk for abnormal chromosomal microarray analysis (CMA) results among fetuses with an apparently isolated pelvic kidney. Methods Data from all CMA analyses performed due to an isolated pelvic kidney reported to the Israeli Ministry of Health between January 2013 and September 2016 were retrospectively obtained. Risk estimation was performed comparing the rate of abnormal observed CMA findings to the general population risk, based on a systematic review encompassing 9272 cases and on local data of 5541 cases.

Microarray analysis in pregnancies with isolated echogenic bowel.

Introduction: Fetal echogenic bowel is a frequent sonographic finding, demonstrated in about 1% of pregnancies. The advised evaluation of fetal echogenic bowel includes maternal serology, genetic testing for cystic fibrosis, detailed sonographic anatomic survey, and invasive prenatal testing for fetal chromosomal aberrations. The objective of our study was to evaluate the risk for clinically significant chromosomal microarray analysis (CMA) findings in pregnancies with isolated echogenic bowel.

Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.

Twelve individuals of consanguineous Bedouin kindred presented with autosomal recessive progressive spastic paraplegia evident as of age 0-24 months, with spasticity of lower limbs, hyperreflexia, toe walking and equinus deformity. Kyphoscolisois was evident in older patients. Most had atrophy of the lateral aspects of the tongue and few had intellectual disability.

Ultrasound of ankles in the diagnosis of complications of chikungunya fever.

Objective: To describe the main ultrasound findings of chikungunya fever in the ankle.

Materials And Methods: This was a cross-sectional observational study involving 52 patients referred to the Hospital Universitário Pedro Ernesto and presenting with clinical and biochemical evidence of chikungunya fever. The examinations were performed by a radiologist with more than 20 years of experience in ultrasound.

Clinical aspects of prenatally detected congenital heart malformations and the yield of chromosomal microarray analysis.

Objective: The yield of chromosomal microarray analysis (CMA) for prenatally detected congenital heart defects (CHD) is 6.6% to 19.2%.

Efficacy of an Enrichment Media for Increasing Threshold for Carbapenem-Resistant Enterobacteriaceae Screening.

Background: Identification of carbapenem-resistant Enterobacteriaceae (CRE) is complex and a major laboratory challenge; clinical cultures may diagnose only some of the CRE carriers among patients, thus it is crucial to perform asymptomatic carriage screening.

Materials And Methods:  We compare the efficacy of a rectal sample culture prior to enrichment with BHI (Brain Heart Infusion) Broth and following 18-24 h. All rectal samples were applied on CHROMagar KPC selective growth media and then seeded on MacConkey agar selective growth media with an applied disk of Imipenem antibiotic on top of the media, then inserted into enrichment BHI Broth.

An efficiency comparison between three invasive methods for the diagnosis of Helicobacter pylori infections: Culture from stomach biopsy, rapid urease test (CUTest(®)), and histologic examination of gastric biopsy.

Background: Helicobacter pylori is one of the most prevalent pathogenic bacteria in the world, and humans are its principal reservoir. There are several available methods to diagnose H. pylori infection.

Improvement and optimization of the classical gastric biopsy culture technique for Helicobacter pylori diagnosis using trypsin.

Helicobacter pylori infection represents a key factor in the aetiology of various gastrointestinal diseases. H. pylori infection diagnosis is generally achieved using both invasive (e.

Performance of Gram staining on blood cultures flagged negative by an automated blood culture system.

Blood is one of the most important specimens sent to a microbiology laboratory for culture. Most blood cultures are incubated for 5-7 days, except in cases where there is a suspicion of infection caused by microorganisms that proliferate slowly, or infections expressed by a small number of bacteria in the bloodstream. Therefore, at the end of incubation, misidentification of positive cultures and false-negative results are a real possibility.

The physiologic and therapeutic role of heparin in implantation and placentation.

Implantation, trophoblast development and placentation are crucial processes in the establishment and development of normal pregnancy. Abnormalities of these processes can lead to pregnancy complications known as the great obstetrical syndromes: preeclampsia, intrauterine growth restriction, fetal demise, premature prelabor rupture of membranes, preterm labor, and recurrent pregnancy loss. There is mounting evidence regarding the physiological and therapeutic role of heparins in the establishment of normal gestation and as a modality for treatment and prevention of pregnancy complications.

Antenatal diagnosis of idiopathic arterial calcification: a systematic review with a report of two cases.

Introduction: Idiopathic antenatal calcification is a rare, generally lethal, condition with unclear etiology.

Materials And Methods: Around 200 cases, most of them undergoing postnatal diagnosis, are reported in literature. The majority of the affected infants die before the age of 6 months, and very few have survived for more than 1 year.

Meconium-stained amniotic fluid--risk factors and immediate perinatal outcomes among SGA infants.

Objective: To detect factors that are associated with meconium-stained amniotic fluid (MSAF) among deliveries of small for gestational age (SGA) neonates and to identify perinatal outcomes of deliveries of SGA infants complicated with MSAF.

Methods: A population-based study comparing deliveries of SGA neonates with and without MSAF was conducted. Deliveries occurred during the years 1988-2007 at the Soroka University Medical Center.