Albumin in the Meconium of Infants with Cystic Fibrosis: A Preliminary Report

PEDIATRICS ◽  
1964 ◽  
Vol 33 (1) ◽  
pp. 115-119
Author(s):  
WILMER C. WISER ◽  
FRANCES R. BEIER
Keyword(s):  
Cystic Fibrosis ◽  
Family History ◽  
Protein Content ◽  
Preliminary Report ◽  
Diagnostic Procedure ◽  
Serum Proteins ◽  
Newborn Infants ◽  
Control Group ◽  
Abnormal Protein ◽  
History Of

Meconium samples were collected from 5 newborn infants, who had a known family history of cystic fibrosis of the pancreas but who did not present with meconium ileus, and 11 normal newborn infants. Extracts of the meconium samples were examined for the presence of serum proteins by paper and immunoelectrophoresis. Three of the infants who had a family history of cystic fibrosis of the pancreas showed protein in their meconium, and this was identified by immunoelectrophoresis as consisting mainly of albumin; each of these babies subsequently developed classic symptoms of cystic fibrosis of the pancreas. The two remaining infants had no albumin in the meconium and did not develop signs of cystic fibrosis. None of the meconium samples of the control group of infants contained detectable amounts of albumin. Possible sources of the abnormal protein content of meconium are discussed, and the suggestion that the finding of albumin in meconium of newborn infants may prove to constitute a valuable diagnostic procedure for screening newborn infants for cystic fibrosis of the pancreas is advanced.

Association between SIRT6 Methylation and Human Longevity in a Chinese Population

2020 ◽  
pp. 1-10
Author(s):  
Xu Tang ◽  
Yi Wei ◽  
Jian Wang ◽  
Shiyi Chen ◽  
Jiansheng Cai ◽  
...  
Keyword(s):  
Family History ◽  
Protein Content ◽  
Protective Factor ◽  
Methylation Status ◽  
Human Longevity ◽  
Control Group ◽  
Mrna Levels ◽  
Methylation Rate ◽  
Cpg Sites ◽  
History Of

<b><i>Background:</i></b> <i>Sirtuin</i> 6 gene (SIRT6) is a longevity gene that is involved in a variety of metabolic pathways, but the relationship between SIRT6 methylation and longevity has not been clarified. <b><i>Methods:</i></b> We conducted a case-control study on 129 residents with a family history of longevity (1 of parents, themselves, or siblings aged ≥90 years) and 86 individuals without a family history of exceptional longevity to identify the association. DNA pyrosequencing was performed to analyze the methylation status of <i>SIRT6</i> promoter CpG sites. qRT-PCR and ELISA were used to estimate the <i>SIRT6</i> messenger RNA (mRNA) levels and protein content. Six CpG sites (P1–P6) were identified as methylation variable positions in the <i>SIRT6</i> promoter region. <b><i>Results:</i></b> At the P2 and P5 CpG sites, the methylation rates of the longevity group were lower than those of the control group (<i>p</i> &#x3c; 0.001 and <i>p</i> = 0.009), which might be independent determinants of longevity. The mRNA and protein levels of <i>SIRT6</i> decreased in the control group (<i>p</i> &#x3c; 0.0001 and <i>p</i> = 0.038). The mRNA level negatively correlated with the methylation rates at the P2 (<i>r</i><sub>s</sub> = −0.173, <i>p</i> = 0.011) and P5 sites (<i>r</i><sub>s</sub> = −0.207, <i>p</i> = 0.002). Furthermore, the protein content positively correlated with the methylation rate at the P5 site (<i>r</i><sub>s</sub> = 0.136, <i>p</i> = 0.046) but showed no significant correlation with the methylation rate at the P2 site. <b><i>Conclusion:</i></b> The low level of <i>SIRT6</i> methylation may be a potential protective factor of Chinese longevity.

Identification of Features Associated with Flying Phobia in Aircrew

1981 ◽  
Vol 139 (1) ◽  
pp. 38-42 ◽  
Author(s):  
R. C. B. Aitken ◽  
J. A. Lister ◽  
C. J. Main
Keyword(s):  
Family History ◽  
Skin Conductance ◽  
Predictive Value ◽  
Matched Control ◽  
Anxiety Symptoms ◽  
Control Group ◽  
Psychometric Tests ◽  
Matched Control Group ◽  
Spontaneous Fluctuation ◽  
History Of

SummaryThe psychological and physiological features of 20 aircrew consecutively referred for treatment of anxiety symptoms when flying were compared with a matched control group of uncomplaining aircrew. There were no significant differences between the two groups on psychometric tests of personality, though there were differences in skin conductance; the phobics had a higher rate of spontaneous fluctuation, and habituated less to a repeated auditory tone. More of the phobic group worried about their wives and acknowledged childhood and other adulthood phobias; more had a family history of an episode perhaps best described as flying trauma. Many were on an overseas posting when symptoms presented. These few features could correctly classify 85 per cent of the subjects into the phobic or control group. This type of ‘phobic aircrew index’ now requires to be validated prospectively for its predictive value.

scholarly journals Younger age of patients with myocardial infarction correlates with higher number of relatives with history of premature atherosclerosis

2020 ◽  
Author(s):  
Michał Ambroziak ◽  
Katarzyna Niewczas-Wieprzowska ◽  
Agnieszka Maicka ◽  
Andrzej Budaj
Keyword(s):  
Myocardial Infarction ◽  
Family History ◽  
Young Patients ◽  
Significant Risk ◽  
Control Group ◽  
Premature Coronary Artery Disease ◽  
Premature Atherosclerosis ◽  
Global Issues ◽  
Younger Age ◽  
History Of

Abstract Background. Premature coronary artery disease belongs to the most pressing global issues in a modern cardiology. Family history appears to be one of the most important and significant risk factors in young patients with myocardial infarction (MI). The aim of the study was to investigate the role of family history of premature cardiovascular disease (CVD) in patients <50 years with myocardial infarction (MI) compared to patients ≥ 50 years with MI and to young healthy people.Methods. The studied group (MI<50) consisted of 240 patients aged 26-49 years with MI. The control groups consisted of 240 patients (MI≥50) with MI aged 50-92 years and 240 healthy people aged 30-49 years.Results. There were statistically significant differences between the MI<50 and MI≥50 and young healthy groups regarding family history of premature MI/ischaemic stroke and percent of patients with of ≥2 relatives affected including parents, children, siblings, siblings of parents and grandparents (10.8%, 2.9%, 3.7%, respectively; p<0.0001). There was a statistically significant negative correlation between the age of the first episode of MI and the number of relatives with a history of premature MI/stroke (r=0.249, p<0.05) within all MI patients. Statistically significant differences between MI<50 and MI≥50 groups as well as young healthy control group were revealed regarding prevalence of smoking, body mass index (BMI), LDL, HDL, triglycerides (TG) and glucose levels.Conclusions. Younger age of patients with myocardial infarction correlates with a higher number of relatives with a history of premature MI/ischemic stroke. Thus, the family history of premature atherosclerosis involving not only the first-, but also the second-degree relatives, seems to be valuable and could be considered in an individual CVD risk evaluation in young people.

scholarly journals Study of risk factors and its correlation with constraint induced movement therapy for atherosclerosis in patients of coronary artery disease and their offspring

2020 ◽  
Vol 7 (3) ◽  
pp. 446
Author(s):  
Venugopal Margekar ◽  
Shweta Thakur ◽  
O. P. Jatav ◽  
Pankaj Yadav
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Positive Family History ◽  
Surrogate Marker ◽  
Control Group ◽  
Medical College ◽  
Constraint Induced Movement Therapy ◽  
Group Data ◽  
History Of ◽  
Artery Disease

Background: A significant percent of cardiovascular event occurs without well-known modifiable risk. A new tool for early identification for atherosclerosis is required for early intervention. Aims and objectives of the study was to study the risk factors for CAD and its correlation with CIMT.Methods: One hundred and forty subjects were studied for the risk factors of CAD in Department of Medicine of G.R. Medical College, Gwalior from 2012 to 2013. Out of 140 subjects, 100 were patients having CAD and 40 age matched subjects were included as control group. Data was also recorded from their offspring. High resolution B mode ultrasonography was performed to assess CIMT of carotid arteries. The maximum CIMT of any one side of carotid artery was taken for study.Results: CAD was more prevalent among males (78%). Majority of the offspring of cases had age between 28-42 years and majority were male (73%). Most common risk factors for CAD was dyslipidemia (48%), hypertension (24%), diabetes (12%) and smoking (21%), whereas in offspring’s of CAD patients, dyslipidemia was seen in 28%, hypertension in 3%, diabetes and tobacco smoking in 12% and 24% respectively. The CIMT of CAD patients was significantly increased with increasing the number of risk factors and the same pattern was also seen in controls.  The CIMT of asymptomatic offspring’s having positive family history was significantly more than the asymptomatic offspring without positive family history of CAD.Conclusions: CIMT measurements can be used as a surrogate marker of atherosclerosis as it has showed a direct link with number of risk factors of CAD. 

scholarly journals The Characteristics of Risk Factors in Chinese Young Women with Acute Coronary Syndrome

2020 ◽  
Author(s):  
Ruifang Liu ◽  
Fangxing Xu ◽  
Yujie Zhou ◽  
Tongku Liu
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Young Women ◽  
Early Onset ◽  
Young Female ◽  
Cardiac Insufficiency ◽  
Control Group ◽  
Significant Difference ◽  
Gynecological Diseases ◽  
History Of

Abstract Background In recent years, the prevalence rate of ACS in Chinese young women has been increasing significantly, becoming the main cause of death in young female. This study aimed to investigate the characteristics and difference of risk factors in Chinese young women with ACS and to provide references for ACS prevention and treatment. Methods A 1:1 case-control study was conducted to evaluate risk factors of 415 young female patients with ACS (ACS group) who underwent PCI treatment and 415 young female cases without ACS (control group) who were hospitalized and confirmed by coronary angiography to exclude coronary heart disease from January 2010 to August 2016. The average age of the cases in the two groups was respectively (40.77±4.02) years-old and (40.57±4.01) years-old (P> 0.05). Results The risk factors in ACS group were overweight (64.10%), hypertension (49.88%), hyperlipidemia (35.66%), diabetes (23.37%), depression or anxiety disorder (16.62%), gynecological diseases (16.39%), Hyperuricemia (15.18%), family history of early onset coronary heart disease (14.94%), hyperhomocysteinemia (11.33%), hypothyroidism(14.96%), hypercholesterolemia (8.43%) and high c-reactive protein (7.47%), and were statistically significant difference (P<0.01) compared with that of control group. The average number of risk factors per case in ACS group was significantly more than that of control groups (P<0.01). There was a statistically significant difference in the number of combined risk factors of the overweight cases compared between two groups (P<0.01). Regression analysis showed that hyperlipidemia, hyperhomocysteinemia, overweight（obesity）, high CRP, hypertension, hypothyroidism, gynecological diseases, depression or anxiety, cardiac insufficiency, hypercholesterolemia, diabetes, oral contraceptives, family history of early onset CHD, and autoimmune diseases were independent risk factors (P<0.01). The bivariate correlation analysis between CRP level and age was r= -0.158 (P<0.01). This result showed the younger ACS patient is the higher serum CRP. Conclusion The independent risk factors of ACS in young women are hyperlipidemia, hyperhomocysteinemia, overweight, high CRP, hypertension, hypothyroidism, gynecological diseases, depression or anxiety, cardiac insufficiency, hypercholesterolemia, diabetes, oral contraceptives, family history of early onset CHD, and autoimmune diseases. The co-existence of multiple risk factors is the main cause suffering from ACS in young women.

scholarly journals CYSTIC FIBROSIS OF THE PANCREAS

1969 ◽  
Vol 129 (4) ◽  
pp. 775-793 ◽  
Author(s):  
B. Shannon Danes ◽  
Alexander G. Bearn
Keyword(s):  
Cystic Fibrosis ◽  
Cell Culture ◽  
Family History ◽  
Inborn Error ◽  
Skin Fibroblast ◽  
Inborn Error Of Metabolism ◽  
Fibroblast Cultures ◽  
Biochemical Studies ◽  
History Of ◽  
Heterozygous Carriers

103 individuals from 16 families with cystic fibrosis and 87 individuals without family history of cystic fibrosis have been studied using the methods of cell culture. Skin fibroblast cultures derived from 19 affected children, and fibroblast cultures from 11 different organs obtained at autopsy from two affected children, showed cellular metachromasia. The morphological appearance and the intracellular mucopolysaccharide content enabled these cultures to be divided into two distinct classes. Class I had discrete cytoplasmic metachromatic vesicles and a mucopolysaccharide content similar to that observed in normal fibroblasts. In class II the metachromasia was present in both vesicles and granules and was evenly distributed throughout the cytoplasm. The mucopolysaccharide content of these cells was markedly increased. The cultures derived from the parents, presumed heterozygotes, and other members of each family showed cells with the same type of metachromasia as that demonstrated by the propositus. These data strongly suggest that cystic fibrosis is not a homogeneous entity and, moreover, can be caused by homozygosity of genes at two distinct loci. The recognition of cytoplasmic abnormalities in skin fibroblasts derived from affected individuals and heterozygous carriers for cystic fibrosis should facilitate genetic and biochemical studies on the heterogeneity of this inborn error of metabolism.

scholarly journals Some Risk Factors of Chronic Functional Constipation Identified in a Pediatric Population Sample from Romania

2016 ◽  
Vol 2016 ◽  
pp. 1-8 ◽  
Author(s):  
Claudia Olaru ◽  
Smaranda Diaconescu ◽  
Laura Trandafir ◽  
Nicoleta Gimiga ◽  
Gabriela Stefanescu ◽  
...  
Keyword(s):  
Family History ◽  
Dietary Habits ◽  
Pediatric Population ◽  
Positive Family History ◽  
Population Sample ◽  
Control Sample ◽  
Functional Constipation ◽  
Control Group ◽  
Significant Difference ◽  
History Of

We conducted an observational study over a 1-year period, including 234 children aged 4–18 years and their caregivers and a matching control group. 60.73% of the children from the study group were males. Average age for the onset of constipation was 26.39 months. The frequency of defecation was 1/4.59 days (1/1.13 days in the control group). 38.49% of the patients in the sample group had a positive family history of functional constipation. The majority of children with functional constipation come from single-parent families, are raised by relatives, or come from orphanages. Constipated subjects had their last meal of the day at later hours and consumed fast foods more frequently than the children in the control sample. We found a statistically significant difference between groups regarding obesity/overweight and constipation (χ2=104.94,  df=2,  p<0.001) and regarding physical activity and constipation (χ2=18.419;  df=3;  p<0.001). There was a positive correlation between the number of hours spent watching television/using the computer and the occurrence of the disease (F= 92.162,p<0.001, and 95% Cl). Children from broken families, with positive family history, defective dietary habits, obesity and sedentary behavior, are at higher risk to develop chronic functional constipation.

Central Centrifugal Cicatricial Alopecia: Retrospective Chart Review

2010 ◽  
Vol 14 (5) ◽  
pp. 212-222 ◽  
Author(s):  
Sejal K. Shah ◽  
Andrew F. Alexis
Keyword(s):  
Family History ◽  
Chart Review ◽  
Seborrheic Dermatitis ◽  
Positive Family History ◽  
Retrospective Chart Review ◽  
Control Group ◽  
Adult Women ◽  
History Of ◽  
Hair Care ◽  
Women Of African Descent

Background: Few studies have investigated central centrifugal cicatricial alopecia (CCCA). Thus, our understanding of CCCA is largely based on anecdotal evidence. Objective: The purpose of this study was to investigate clinical characteristics and hair care practices in CCCA patients. Methods: We conducted a single-center retrospective chart review of patients with a clinicopathologic diagnosis of CCCA. Results: Medical records of 69 patients were reviewed. Of these, 97% were female. The mean ages at onset and presentation were 38.2 and 42.4 years, respectively. All subjects for whom hair care data were available had used a traumatic practice at least once, the most common being chemical relaxer. Family history data were available for 27 subjects (39%). Of these, 56% had a positive family history of hair loss. Seborrheic dermatitis was the leading concurrent diagnosis. Limitations: Limitations include lack of a control group, retrospective design, and selection bias. Conclusions: Our results confirm that CCCA primarily affects adult women of African descent. The majority of patients presented several years after onset, suggesting that efforts to encourage earlier diagnosis are warranted. Although the role of hair care remains unclear, traumatic practices were reported in all patients in our study for whom hair care was documented.

scholarly journals Evaluation of The 10 Warning Signs In Immunodeficient Patients: Additional Suggestions

2021 ◽  
Author(s):  
Fadime Ceyda Eldeniz ◽  
Yahya Gül ◽  
Alaattin Yorulmaz ◽  
Şükrü Nail Güner ◽  
Sevgi Keles ◽  
...  
Keyword(s):  
Family History ◽  
Early Diagnosis ◽  
Chronic Diarrhea ◽  
Warning Signs ◽  
Control Group ◽  
Healthy Children ◽  
Physician Awareness ◽  
History Of ◽  
And Control ◽  
Immunological Evaluation

Abstract Objective: Ten warning signs of primary immunodeficiency (PID) were suggested by the Jeffrey Modell Foundation (JMF), to increase physician awareness of PID. These warning signs have not yet been evaluated for patients with secondary immunodeficiency (SID). This study investigated whether the 10 warning signs used for the diagnosis of PID are sufficient for the diagnosis of SID, and explored the possibility of additional signs.Methods: This prospective study was conducted between June and December 2020. The mothers of 162 patients with PID and SID, and mothers of 200 healthy children, were asked to complete a questionnaire about family and personal history in addition to the warning signs of PID developed by the JMF. A JMF score was created by giving one point for each “Yes” answer for the 10 warning signs of PID. Medical records of the patients were evaluated for possible additional warning signs for PID and SID. Results: The JMF scores of the PID (3.36 ± 1.65) and SID (3.72 ± 1.12) groups were significantly higher than the scores of the control group (0.34 ± 0.61) (p < 0.05). A sign for immunological evaluation in two patients without warning signs in the PID group was found to be chronic diarrhea. In addition to the 10 JMF warning signs, we found that consanguinity and a family history of tuberculosis were statistically significant in our PID group, compared with the SID and control groups. Conclusions: The JMF warning signs are important for early diagnosis of PID. Our study showed that these signs may also be used for the early diagnosis of SID in patients and, according to our results, in addition to the 10 JMF signs for PID, parental consanguinity, chronic diarrhea, and a family history of tuberculosis may also be considered warning signs for the early diagnosis of PID.

scholarly journals Gene Mutations for Cystic Fibrosis and Predisposition to Chronic Rhinosinusitis in Chinese Children

2021 ◽  
Author(s):  
Yang Han ◽  
Pengpeng Wang ◽  
Wenjing Liu ◽  
Xiao Xiao ◽  
Xiaojian Yang ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Chronic Rhinosinusitis ◽  
Gene Mutations ◽  
Chinese Children ◽  
Cftr Gene ◽  
Control Group ◽  
Common Disease ◽  
Upper Respiratory Tract ◽  
Population Database ◽  
History Of

Background: Chronic Rhinosinusitis (CRS) is a common disease in children. In recent years, a new airway epithelial ionocyte has been discovered and is closely related to the expression of cystic fibrosis transmembrane conductance regulator (CFTR), which provides new ideas for the study of the mechanism of CRS. However, the carrying status of the CFTR mutant gene in the Chinese population is not clear. Objective: To study the frequency and mutations of CFTR and FOXI1 (ForkheadBoxI1) in Chinese children with CRS, and to analyze whether they are predisposed to CRS. Methods: A controlled case study was conducted from 2020 to 2021. The CFTR and FOXI1 genomes of 46 children with CRS and 23 children with no history of CRS from the Chinese mainland area were sequenced, and the relationship between mutation rate and the disease were analyzed. Results: 13 CFTR gene mutation sites’ carrying rate in the CRS group was higher than the control group, and 2 of them was significantly higher than that in the East Asian population database. The children who had a history of recurrent upper respiratory tract infection carried CFTR gene mutations associated with the pathogenesis. There was no difference in the carrying of FOXI1 mutation between the two groups. Conclusion: The incidence of CF mutation is higher in Chinese children with CRS who have no history of Cystic Fibrosis (CF). c.650A> G (p.E217G) and c.1950C> A (P. F 650 L) and may play a role in the development of CRS conditions in children in China.

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