Search

Contains fulltext : 249888.pdf (Publisher’s version ) (Open Access) BACKGROUND: In-depth insight into haemodynamic changes during normotensive pregnancy may help identify women at risk for gestational hypertensive complications. OBJECTIVES: To determine the magnitude of changes in cardiac output and its determinants stroke volume and heart rate, and total peripheral vascular resistance during singleton normotensive and hypertensive pregnancies. SEARCH STRATEGY: PubMed (NCBI) and Embase (Ovid) databases were searched from their inception up to November 2019. SELECTION CRITERIA: Studies reporting original measurements of haemodynamic parameters during pregnancy together with a non-pregnant reference measurement. Studies including women using antihypertensive medication were excluded. DATA COLLECTION AND ANALYSIS: Pooled mean differences between pregnant and non-pregnant women, and absolute values of haemodynamic parameters were calculated for predefined gestational intervals using a random-effects model in normotensive and hypertensive pregnancy. Meta-regression analysis was used to analyse group differences in adjustments and absolute values during pregnancy. MAIN RESULTS: In normotensive pregnancies, cardiac output increased from the first weeks on, reaching its highest level early in the third trimester (mean difference, 1.41 l·min(1) ; 95% CI 1.18-1.63 l·min). In parallel, vascular resistance decreased progressively until its nadir in the early third trimester (mean difference, -331 dyn·sec(-1) ·cm(-5) ; 95% CI -384 to -277 dyn·sec(-1) ·cm(-5) ) and then increased slightly at term. In hypertensive pregnancies, the initial cardiac output increase was higher and vascular resistance did not change throughout gestation compared with reference values. CONCLUSIONS: Hemodynamic changes in women who eventually develop hypertensive complications are substantially different. Serial monitoring and plotting against developed normograms can identify women at risk and may allow timely intervention. TWEETABLE ABSTRACT: Monitoring haemodynamic changes in pregnancy helps identify women at risk for hypertensive complications.

Insufficient water intake has been a global health concern as it is linked to numerous adverse health consequences. Risk factors for dehydration include low fluid intake, sun and heat exposure which is a key element especially in the Gulf region. The aim of this study was to identify the prevalence and the impinging factors of hypohydration among college students in UAE.Bioelectrical Analysis Impedance (BIA), attained using BodyStat 1,500 MDD, was used to assess participants' body water levels. Adequate hydration level was defined as body water level of 50-60% for females and 55-65% for males. Alongside this, a scale and a stadiometer were used to measure the participants' weight and height in order to calculate their BMI. A self-administered questionnaire was also used to assess and correlate the test findings with the risk factors, signs and symptoms, and the level of knowledge awareness of the participants.Of the 201 university students that participated in the study, 41.3% were hypohydrated, 55.7% were well hydrated and 3% were hyper-hydrated. Among hypohydrated participants, 56.6% were females and 43.4% were males, highlighting that females were at higher risk of becoming dehydrated than males. A major factor that negatively affected hydration status was BMI; as BMI increased, water percentage and therefore hydration status decreased. We checked for numerous signs and symptoms that could indicate hypohydration levels, and the following were the top five most prevalent among our participants: dry lips (51.90%), thirst (46.90%), tiredness (46.80%), dry skin (39.70%) and headache (36.90%). According to The Urine Color Chart (Human Kinetics, Champaign, IL, USA), 3.5% were classified as dehydrated, 46% were in danger of getting hypohydration levels while 19.5% were classified as having good hydration levels. There was no significant correlation between water intake and urine colour chart (p = 0.334). Among the study participants, 64.2% acquired their knowledge from internet, 30.80% from TV and radio and 26.90% from books and courses. The behavior aspect of the participants when feeling thirsty, was that 79% of them would resort to water, while 11% resorted to soft drinks and 10% to juices.The prevalence of hypohydration levels was 41.3% among the study participants of young university students. The main risk factors affecting hydration levels were BMI and gender. This signifies the importance of good hydration habits which were not commonly practiced among students even though they had adequate knowledge regarding the topic. Regular check-ups held intermittently can aid in recognizing those at risk of dehydration and help in educating about the importance of such topic especially regionally.

Contains fulltext : 249885.pdf (Publisher’s version ) (Open Access) Gestational hypertensive complications are preceded by deviant hemodynamic adjustments affecting blood pressure. Our objective was to determine the timing and magnitude of changes in blood pressure during singleton normotensive and hypertensive pregnancies. PubMed (NCBI) and Embase (Ovid) databases were searched for relevant studies up to November 2019. Studies reporting original blood pressure measurements during pregnancy together with a non-pregnant reference measurement were included. Studies including women with a history of cardiovascular or metabolic disease, or women using antihypertensive drugs were excluded. Pooled mean differences between pregnant and non-pregnant women, and absolute blood pressure values were calculated for predefined gestational intervals in normotensive and hypertensive pregnancy, using a random-effects model. Meta-regression analysis was used to analyze group differences in adjustments. In early normotensive pregnancy, both systolic and diastolic blood pressure decreased, reaching their maximum reduction of -4 mmHg (95%CI -6 to -1 mmHg) and -4 mmHg (95%CI, -5 to -3 mmHg), respectively in the second trimester. Thereafter, blood pressure gradually increased towards non-pregnant values. All absolute blood pressure measurements throughout normotensive pregnancy were below 130/80 mmHg. In hypertensive pregnancies, only diastolic blood pressure decreased early in pregnancy. In conclusion, this meta-analysis showed a clinically moderate, but significant mid-pregnancy drop in blood pressure during normotensive pregnancy. Reference curves with absolute values underscore the current liberal cut-off limit for gestational hypertension. A lack of a mid-pregnancy systolic blood pressure drop might reflect increased vascular resistance in women destined to develop hypertensive pregnancy complications.

Objectives: To describe the incidence of pulmonary embolism (PE) in sickle cell disease (SCD) patients admitted to the intensive care unit (ICU). Methods: A retrospective descriptive analysis was conducted with 124 SCD patients diagnosed with PE or suspected PE admitted to the ICU of Salmaniya Medical Complex, Manama, Bahrain between May 2017 and April 2018. A data collection form was used to obtain information on the history and demographics of PE patients. Results: A total of 124 patients diagnosed with SCD were admitted to the ICU during the study period. Male patients slightly outnumbered (n=75; 56.4%) female patients, and the average age was in the mid-thirties (mean=37.4 years). The main diagnosis leading to ICU admission was vaso-occlusive crisis. The average hemoglobin level was 8.6 mg/dl, hemoglobin S% was 55.8%, and the length of stay in the ICU was 5.3 days. A total of 5 patients were diagnosed with PE with an incidence rate of 3.8%. All PE patients were females, which resulted in a significant relationship between gender and the likelihood of developing PE. No statistical relationship existed between the likelihood of developing PE and patient age, hemoglobin, hemoglobin S%, length of stay in ICU, and mortality. Conclusion: The demographic characteristics of the population included a male predominance, age in the mid-thirties, and vaso-occlusive crisis diagnosis upon admission to the ICU. The incidence of PE was significantly related to female gender. No significant relationship existed between the likelihood of developing PE and age, hemoglobin, hemoglobin S%, length of ICU stay, or mortality.

To determine the distribution of urinary incontinence (UI) symptoms and their relation to childbirth events.This cross-sectional study used a structured self-administered questionnaire that included the Questionnaire for Female Urinary Incontinence Diagnosis and the Urogenital Distress Inventory Short Form. The study included 802 women sampled from four primary health care centers in Dammam, KSA. A chi-square test and adjusted logistic regression models were used to examine the relation between UI symptoms and obstetric events.Of the participants, 56.6% (n = 454) had at least one UI symptom. Symptoms were most commonly associated with grand multiparity (80.47%), a history of abortion (72%), assisted vaginal delivery (70%), an age of ≤ 18 years at first birth (66.67%) and ≥ 35 years at last birth (75.48%), and a history of macrosomia (84.62%) and episiotomy (67.89%). Unlike the risk of urgency UI, the risk of stress UI was statistically significantly linked to obstetric events. Grand multiparity was associated with a higher risk of both stress UI (odds ratio [OR]: 3.75, confidence interval [95% CI]: 1.68-8.40) and urgency UI (OR: 2.87, 95% CI: 1.07-7.73).UI symptoms are common among grand multiparas. Unlike urgency UI, stress UI is associated with previous obstetric events.

Reporting critical values continues to receive a widespread attention from health care givers as it symbolizes a crucial clinic-laboratory link. This is because healthcare providers did realize the importance of prompt and timely communication of the critical results, which have positive implications on patient safety and treatment outcomes. In addition to physician and nurses, patients are also recipients of critical values, where they can make informed decisions prior to clinical intervention. The College of American Pathologists (CAP) requires stringent policies for reporting critical values in all laboratories, including adoption of a robust quality assurance system. Research studies have indicated that there still no universally accepted critical values list. This is because of various factors; such as differences in institutional organization, patient population, clinical demand, staffing, and instrumentation. However, through collaboration with other stakeholders involved in the delivery of healthcare, lab professionals may be able to come up with a realistic critical values list that reflects on the local needs and dynamics of patients' service.This review offers an insight into the process of reporting critical values, some challenges encountered, as well as the policies and procedures of effective reporting with a particular focus on the guidelines of the College of American Pathologists. There should be a common global guideline introduced by the health care governing agencies to be adapted with some flexibility in clinical laboratories in different clinical settings.

Chromosomal copy number variants (CNVs) are known contributors to neurodevelopmental conditions such as autism spectrum disorder (ASD). Both array comparative genomic hybridization and next-generation sequencing techniques have led to an increased detection of small CNVs and the identification of many candidate susceptibility genes for ASD. We report familial inheritance of two CNVs that include genes with known involvement in neurodevelopment. These CNVs are found in various combinations among four siblings with autism spectrum disorder, as well as in their neurodevelopmentally normal parents. We describe a 2.4 Mb duplication of 4p12 to 4p11 that includes GABRA4 (OMIM: 137141) and other GABA receptor genes, as well as a 246 kb deletion at 22q11.22 involving the TOP3B gene (OMIM: 603582). The maternally inherited 4p duplication was detected in three siblings, two of whom also had the paternally inherited 22q11.22 deletion. The fourth sibling only had the 22q11.22 deletion. These CNVs have rarely been reported in the literature. Upon review, a single publication was found describing a similar 4p duplication in three generations of a family with neurodevelopmental and neuropsychiatric disorders, as well as in an unrelated patient with autism (Polan et al., 2014). TOP3B falls within the distal 22q11.22 microdeletion syndrome and has been associated with schizophrenia, neurodevelopmental disorders including epilepsy, and cardiac defects. The identification of this family contributes to the understanding of specific genetic contributors to neurodevelopmental disorders and an emerging phenotype associated with proximal 4p duplication.

Black pepper (Piper nigrum; BP), known as the 'king of spices', imported from various countries is widely available in Saudi Arabian markets, as its demand as a food as well as a medicine for minor ailments is increasing in the country. However, there is a lack of appropriate information regarding these samples in terms of quality variation and standardization. We thus aimed to evaluate the quality and standardize the BP sample with respect to its physicochemical characters, active principle variation [i.e. piperine (PPN)], toxicity, and biological activity. The main focus is to validate whether any difference exists in the quality and quantity of active principle in these samples. For this purpose, physicochemical (chemical tests and ash values) and instrumental analyses [accelerated solvent extraction (ASE), ultra-high-pressure liquid chromatography (UHPLC)-diode array detector, infrared (IR), nuclear magnetic resonance (NMR), and inductively coupled plasma-MS (ICP-MS)] and biological evaluation {in vitro antioxidant activity [2,2-diphenyl-1-picrylhydrazyl and 2,2'-azino-bis(3-ethylbenzothiazoline-6-sulfonic acid)] and cytotoxicity assay} were performed. An extract yield (g) with %recovery of 2.26 ± 4.24 (11.3) was obtained for the Vietnamese sample, using a fast and rapid method of extraction (ASE). These values were 1.22 ± 2.64 (6.1) and 0.75 ± 1.69 (3.75) for the Pakistani and Indian samples. Physicochemical tests revealed the presence of flavonoids and phenolic compounds in all samples; however, in the Vietnamese sample a low amount of total, acid-insoluble, and high water-soluble ash value was noted. IR and NMR was applied to further standardize the samples. Results of ICP-MS analysis showed a high amount of macronutrients and micronutrients in the samples tested while UHPLC analysis revealed a high amount of PPN (ng/mL) in the Pakistani sample (1,362,614.09); these values were 1,051,848.04 and 768,512.81 for the Vietnamese and Indian samples, respectively. In vitro antioxidant and cytotoxicity activities revealed higher potential for the Vietnamese sample. The samples were properly standardized and effectively differentiated in terms of quality and biological activities using a fast and reliable method, however it certainly does not mean that a particular geographical region is more better or productive in terms of herbal products.

SATB2-associated syndrome (SAS) is an autosomal dominant neurodevelopmental disorder caused by alterations in the SATB2 gene. Here we present a review of published pathogenic variants in the SATB2 gene to date and report 38 novel alterations found in 57 additional previously unreported individuals. Overall, we present a compilation of 120 unique variants identified in 155 unrelated families ranging from single nucleotide coding variants to genomic rearrangements distributed throughout the entire coding region of SATB2. Single nucleotide variants predicted to result in the occurrence of a premature stop codon were the most commonly seen (51/120 = 42.5%) followed by missense variants (31/120 = 25.8%). We review the rather limited functional characterization of pathogenic variants and discuss current understanding of the consequences of the different molecular alterations. We present an expansive phenotypic review along with novel genotype-phenotype correlations. Lastly, we discuss current knowledge of animal models and present future prospects. This review should help provide better guidance for the care of individuals diagnosed with SAS.

Previously dentists focused on repair and maintenance of function. However, the emphasis of many patients and dentists is now on esthetics. Often there is a need for the disciplines of orthodontics, periodontics, restorative dentistry, and maxillofacial surgery to work together in order to achieve optimum results. Currently the sequencing planning process begins with esthetics and then function, structure, and ultimately biology.

We present cases of 3 children diagnosed with the same genetic condition, Gitelman syndrome, at different stages using various genetic methods: panel testing, targeted single gene sequencing, and exome sequencing. We discuss the advantages and disadvantages of each method and review the potential of genomic sequencing for early disease detection.