Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR

AbstractThe incidence of Cystic fibrosis (CF) and the frequency of the variants for CFTR depend on the population; furthermore, CF symptomatology is characterized by obstructive lung disease, pancreatic insufficiency among others, reliant on the individual genotype. Ecuadorian population is a mixture of Native Americans, Europeans, and Africans. That population admixture could be the reason for the new mutations reported in a previous study by Ruiz et al. (2019). A panel of 46 Ancestry Informative Markers was used to estimate the ancestral proportions of each available sample (12 samples in total). As a result, the Native American ancestry proportion was the most prevalent in almost all individuals, except for three patients from Guayaquil with the mutation [c.757G>A:p.Gly253Arg; c.1352G>T:p.Gly451Val] who had the highest European composition.

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Cystic Fibrosis Manifested as Undescended Testis and Absence of Vas Deferens

PEDIATRICS ◽

10.1542/peds.90.6.982 ◽

1992 ◽

Vol 90 (6) ◽

pp. 982-983

Author(s):

RAN GOSHEN ◽

EITAN KEREM ◽

TZIPORA SHOSHANI ◽

BAT-SHEVA KEREM ◽

ELAD FEIGIN ◽

...

Keyword(s):

Cystic Fibrosis ◽

Autosomal Recessive ◽

Undescended Testis ◽

Vas Deferens ◽

Pancreatic Insufficiency ◽

European Ancestry ◽

Inherited Disease ◽

Musculoskeletal Problems ◽

Male Patients ◽

Almost All

Cystic fibrosis (CF) is the most common autosomal recessive inherited disease in whites. Among whites of European ancestry, approximately 1 in 2000 live births are affected, implying a carrier frequency of 1:25.1 The disease is characterized by chronic lung disease, which usually leads to the patient's death. Furthermore, patients with CF suffer from pancreatic insufficiency and other less common manifestations, such as meconium ileus, hepatobiliary abnormalities, diabetes mellitus, and musculoskeletal problems.1 Almost all males with CF are infertile. Absence of the vas deferens has been reported in 70% to more than 90% of male patients affected by CF.2 Although 4% of full-term male neonates have un-descended testes at birth, 0.8% to 1.0% of 1-year-old boys have cryptorchism and may be subjected to a later surgical intervention.3

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CYSTIC FIBROSIS OF THE PANCREAS

PEDIATRICS ◽

10.1542/peds.19.6.1136 ◽

1957 ◽

Vol 19 (6) ◽

pp. 1136-1138

Author(s):

Paul A. di Sant'Agnese ◽

Charles Upton Lowe

Keyword(s):

Cystic Fibrosis ◽

Clinical Evidence ◽

Clinical Effect ◽

Single Gene ◽

Pancreatic Insufficiency ◽

Recessive Gene ◽

The United States ◽

Live Births ◽

Almost All ◽

Very High

IN THE COURSE of a review of all features of the disease, the following points were particularly noteworthy: Incidence This disease accounts for almost all cases of pancreatic insufficiency in children. The incidence in the population of the United States is between 1 in 600 and 1 in 10,000 live births, with a probable average incidence of 1 in 2,500. There is no sex predominance. There is, however, a difference in racial predilection, being rarely seen in the Negro and never in Mongolians. It is a familial disease, displaying the characteristics of a mendelian recessive gene. This means that in an affected family the disease may occur in approximately 25% of the offspring, that both parents must be carriers of the trait and that two-thirds of the non-affected children are also carriers. Birth order has no effect on the inheritance of this disease. The fact that it is usually a lethal disease indicates that the mutation rate for this gene must be very high; the frequency of the single gene in the population has been calculated to be approximately 1 in 50. Pancreatic Insufficiency Clinical evidence of poor digestion and absorption of protein and fat is seen in the increased quantities of these substances in the feces, which causes the feces to be bulky, foul smelling, foamy and greasy. Another clinical effect of malabsorption is seen in the failure of the newborn infant with cystic fibrosis of the pancreas to regain birth weight in the first 10 days of life. In the absence of other evidence of disease, this is a sign suggestive of pancreatic failure.

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Characterization of two distinct chloride channels in cultured dog pancreatic duct epithelial cells

AJP Gastrointestinal and Liver Physiology ◽

10.1152/ajpgi.1997.272.1.g172 ◽

1997 ◽

Vol 272 (1) ◽

pp. G172-G180 ◽

Cited By ~ 9

Author(s):

T. D. Nguyen ◽

D. S. Koh ◽

M. W. Moody ◽

N. R. Fox ◽

C. E. Savard ◽

...

Keyword(s):

Cystic Fibrosis ◽

Epithelial Cells ◽

Pancreatic Duct ◽

Chloride Channels ◽

Pancreatic Insufficiency ◽

Disulfonic Acid ◽

Cl Channels ◽

Vitro Model

Cl- secretion by pancreatic duct epithelial cells (PDEC) regulates cellular HCO3- secretion, an important component of the exocrine pancreas. In cystic fibrosis, for example, impaired function of the cystic fibrosis transmembrane conductance regulator (CFTR) Cl- channel results in decreased pancreatic secretion and secondary pancreatic insufficiency. Studies of ion transport by PDEC have been hindered by the lack of a practical in vitro model. We have successfully cultured nontransformed dog PDEC on Vitrogen-coated permeable membranes overlying a feeder layer of myofibroblasts and report the characterization of Cl- channels in these cells. Cl- conductance, assessed through efflux of 125I from PDEC, was stimulated by agents acting via adenosine 3',5'-cyclic monophosphate (cAMP) or cytosolic Ca2+. The Cl- conductances activated by cAMP and Ca2+ were distinct, since they were differentially inhibited by 4,4'-diisothiocyanostilbene-2,2'-disulfonic acid and, to a lesser extent, by 5-nitro-2-(3-phenylpropylamino)benzoic acid and diphenylamine-2 carboxylate. Patch-clamp studies confirmed the presence of Cl- channels activated by cAMP and Ca2+, with differential inhibition by 4,4'-diisothiocyanostilbene-2,2'-disulfonic acid. The presence of CFTR Cl- channels in PDEC was confirmed by immunoblotting. These cultured PDEC are an optimal model for studies of pancreatic duct secretion.

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Native American sports mascots activate negative stereotypes about contemporary Native Americans

PsycEXTRA Dataset ◽

10.1037/e527772014-414 ◽

2011 ◽

Author(s):

Elizabeth Focella ◽

Jessica Whitehead ◽

Jeff Stone ◽

Stephanie Fryberg ◽

Rebecca Covarrubias

Keyword(s):

Native American ◽

Native Americans ◽

Negative Stereotypes

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Native Americans and the Third World Strike at UC Berkeley

Explorations in Ethnic Studies ◽

10.1525/esr.2019.42.2.32 ◽

2019 ◽

Vol 42 (2) ◽

pp. 32-39

Author(s):

LaNada War Jack

Keyword(s):

Native American ◽

Native Americans ◽

Personal Experience ◽

Third World ◽

Leadership Roles ◽

The Third ◽

The Creation ◽

The 1960S ◽

The Third World ◽

The University

The author reflects on her personal experience as a Native American at UC Berkeley in the 1960s as well as on her activism and important leadership roles in the 1969 Third World Liberation Front student strike, which had as its goal the creation of an interdisciplinary Third World College at the university.

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Indian Genocide – A Study Through The Works of Elizabeth Cook-Lynn

SMART MOVES JOURNAL IJELLH ◽

10.24113/ijellh.v6i9.9855 ◽

2018 ◽

Vol 6 (9) ◽

pp. 5

Author(s):

Poonam Chourey

Keyword(s):

Native American ◽

Native Americans ◽

South Dakota ◽

Native People ◽

The South ◽

The People ◽

Freedom Fighters ◽

Purpose Of Business ◽

Wounded Knee ◽

Shed Light

The research expounded the turmoil, uproar, anguish, pain, and agony faced by native Indians and Native Americans in the South Dakota region. To explain the grief, pain and lamentation, this research studies the works of Elizabeth Cook-Lyn. She laments for the people who died and also survived in the Wounded Knee Massacre. The people at that time went through huge exploitation and tolerated the cruelty of American Federal government. This research brings out the unchangeable scenario of the Native Americans and Native Indians. Mr. Padmanaban shed light on the works of Elizabeth Cook-Lynn who was activist. Mr. Padmanaban is very influenced with Elizabeth Cook-Lynn’s thoughts and works. She hails from Sioux Community, a Native American. She was an outstanding and exceptional scholar. She experienced the agony and pain faced by the native people. The researcher, Mr. Padmanaban is concerned the sufferings, agony, pain faced by the South Dakota people at that time. The researcher also is acknowledging the Indian freedom fighters who got India independence after over 200 years of sufferings. The foreign nationals entered our country with the sole purpose of business. Slowly and steadily the took over the reign of the country and ruled us for years, made all of us suffer a lot.

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A Thorough Theoretical Exploration of Intriguing Characteristics of Cyclo[18]carbon: Geometry, Bonding Nature, Aromaticity, Weak Interaction, Reactivity, Excited States, Vibrations, Molecular Dynamics and Various Molecular Properties

10.26434/chemrxiv.11320130.v1 ◽

2019 ◽

Cited By ~ 2

Author(s):

Tian Lu ◽

Qinxue Chen ◽

Zeyu Liu

Keyword(s):

Molecular Dynamics ◽

Excited States ◽

Electronic Excitation ◽

Ring Structure ◽

Molecular Properties ◽

Molecular Vibration ◽

Full Characterization ◽

Long Time ◽

Almost All

Although cyclo[18]carbon has been theoretically and experimentally investigated since long time ago, only very recently it was prepared and directly observed by means of STM/AFM in condensed phase (Kaiser et al., Science, 365, 1299 (2019)). The unique ring structure and dual 18-center π delocalization feature bring a variety of unusual characteristics and properties to the cyclo[18]carbon, which are quite worth to be explored. In this work, we present an extremely comprehensive and detailed investigation on almost all aspects of the cyclo[18]carbon, including (1) Geometric characteristics (2) Bonding nature (3) Electron delocalization and aromaticity (4) Intermolecular interaction (5) Reactivity (6) Electronic excitation and UV/Vis spectrum (7) Molecular vibration and IR/Raman spectrum (8) Molecular dynamics (9) Response to external field (10) Electron ionization, affinity and accompanied process (11) Various molecular properties. We believe that our full characterization of the cyclo[18]carbon will greatly deepen researchers' understanding of this system, and thereby help them to utilize it in practice and design its various valuable derivatives.

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A Thorough Theoretical Exploration of Intriguing Characteristics of Cyclo[18]carbon: Geometry, Bonding Nature, Aromaticity, Weak Interaction, Reactivity, Excited States, Vibrations, Molecular Dynamics and Various Molecular Properties

10.26434/chemrxiv.11320130 ◽

2019 ◽

Cited By ~ 2

Author(s):

Tian Lu ◽

Qinxue Chen ◽

Zeyu Liu

Keyword(s):

Molecular Dynamics ◽

Excited States ◽

Electronic Excitation ◽

Ring Structure ◽

Molecular Properties ◽

Molecular Vibration ◽

Full Characterization ◽

Long Time ◽

Almost All

Although cyclo[18]carbon has been theoretically and experimentally investigated since long time ago, only very recently it was prepared and directly observed by means of STM/AFM in condensed phase (Kaiser et al., Science, 365, 1299 (2019)). The unique ring structure and dual 18-center π delocalization feature bring a variety of unusual characteristics and properties to the cyclo[18]carbon, which are quite worth to be explored. In this work, we present an extremely comprehensive and detailed investigation on almost all aspects of the cyclo[18]carbon, including (1) Geometric characteristics (2) Bonding nature (3) Electron delocalization and aromaticity (4) Intermolecular interaction (5) Reactivity (6) Electronic excitation and UV/Vis spectrum (7) Molecular vibration and IR/Raman spectrum (8) Molecular dynamics (9) Response to external field (10) Electron ionization, affinity and accompanied process (11) Various molecular properties. We believe that our full characterization of the cyclo[18]carbon will greatly deepen researchers' understanding of this system, and thereby help them to utilize it in practice and design its various valuable derivatives.

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Physicochemical and bacteriological characterization of hospital effluents and their impact on the environment

10.31221/osf.io/rbka9 ◽

2019 ◽

Author(s):

Chem Int

Keyword(s):

Human Health ◽

Fecal Coliforms ◽

Chemical Pollution ◽

Hospital Effluents ◽

Biological Contaminants ◽

Almost All ◽

Direct Discharge ◽

Significant Chemical

Liquid effluents discharged by hospitals may contain chemical and biological contaminants whose main source is the different substances used for the treatment of patients. This type of rejection can present a sanitary potentially dangerous risk for human health and can provoke a strong degradation of diverse environmental compartments mainly water and soils. The present study focuses on the quality of the liquid effluents of Hassani Abdelkader’s hospital of Sidi Bel-Abbes (West of Algeria). The results reveal a significant chemical pollution (COD: 879 mgO2/L, BOD5: 850 mgO2/L, NH4+ : 47.9 mg/l, NO2- : 4.2 mg/l, NO3- : 56.8 mg/l with respect to WHO standard of 90 mgO2/L, 30 mgO2/L, 0.5 mg/l, 1 mg/l and 1 mg/l respectively). However, these effluents are biodegradable since the ratio COD/BOD5 do not exceeded the value of 2 in almost all samples. The presence of pathogen germs is put into evidence such as pseudomonas, the clostridium, the staphylococcus, the fecal coliforms and fecal streptococcus. These results show that the direct discharge of these effluents constitutes a major threat to human health and the environment.

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