Cystic Fibrosis, CFTR Gene, and Male Infertility

Gajbhiye, Rahul; Gaikwad, Avinash

doi:10.1007/978-981-10-4017-7_9

Cited by 5 publications

(8 citation statements)

References 69 publications

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“…Previously, we reported known mutations and novel variants in the CFTR gene in vas aplasia in a study undertaken from 2013 onwards. [ 42 43 44 45 46 ] Mutations were reported in 66% men, while 34% were negative for CFTR mutations. [ 45 ] The possibility of other genes responsible for vas aplasia in CFTR negative men is being explored using exome sequencing study.…”

Section: Discussionmentioning

confidence: 99%

Clinical presentations and semen characteristics of men attending the secondary referral infertility clinic at Mumbai, India

et al. 2021

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Background: Limited information is available on the aetiology and semen profiles of male infertility in Indian population. Aim: The aim of this study is to study the clinical and semen characteristics of men attending the infertility clinic and also to understand the impact of World Health Organization (WHO) 2010 reference values on the diagnosis of male infertility. Setting and Design: A retrospective study evaluating the medical case records (January 2005 to December 2015, [ n = 1906]) of men attending infertility clinic in Mumbai, India. Materials and Methods: The aetiology was classified based on the andrology evaluation and other investigations. Semen profiles were compared during the years 2005–2010 and 2011–2015 using WHO 1999 and WHO 2010 criteria, respectively. Statistical Analysis: The Chi-square and Mann–Whitney U tests were performed using Open Source Epidemiological software and Social science calculators. Results: The aetiology of male infertility was determined in 62% of the men; while the cause remained undetermined in 38%. Varicocele (25%), urogenital infections (10%), sexual dysfunctions (8%) and vas aplasia (8%) were identified as major aetiologies in our cohort. Men with sexual dysfunctions and vas aplasia were significantly higher during the years 2011–2015 as compared to 2005–2010. Men having normozoospermia (10%) and azoospermia (3%) were increased, whereas those having oligoasthenozoospermia (17%) were reduced in 2011–2015 as compared to 2005–2010. According to WHO 1999 criteria , 12-15% of men showed abnormal semen profiles. The semen parameters of these men became normal on using WHO 2010 reference values. Conclusions: Varicocele is the most common aetiology in infertile men. Idiopathic infertility was seen in a higher proportion among the infertile men.

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Section: Discussionmentioning

confidence: 99%

Clinical presentations and semen characteristics of men attending the secondary referral infertility clinic at Mumbai, India

et al. 2021

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“…Considering that, focus was more on the usage of deep learning for human pose estimation which can be seen in the future studies. Rutuja Gajbhiye et al proposed to perform pose extraction both online in real-time and offline by extracting the key points in the frame using the OpenPose library in the paper [3] published in 2022. OpenPose captures the video and processes it frame by frame, extracting the key points and saving its corresponding output in JSON format.…”

Section: Survey On Methodologies Usedmentioning

confidence: 99%

“…Rutuja Gajbhiye et al introduced in their study [3] a new hybrid strategy that combines deep learning and machine learning classifiers. In this method, the support vector machine (SVM) is first employed, which employs machine learning expertise to improve the overall performance of machine learning algorithms.…”

Section: Figure 2 Confusion Matrixmentioning

confidence: 99%

Real Time Yoga Pose Detection Using Deeplearning: A Review

Sidana¹

2022

IJEAST

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With the increase in the number of yoga practitioners every year, the risk of injuries as a result of incorrect yoga postures has also increased. A selftraining model that can evaluate the posture of individuals is the optimal solution for this issue. This objective can be attained with the aid of computer vision and deep learning. A model that can detect theyoga pose performed by an individual, evaluate it in comparison to the pose performed by an expert, and provide the individual with instructive feedback would be an effective solution to this problem. Recently, numerous researchers have conducted experiments on the detection and performance of yoga poses in real time. This paper discusses the methods undertaken in brief and compares the tools and algorithms they used for conducting pose estimation, pose detection as well as pose assessment. Itdiscusses the accuracy, precision, and similarity of pose classification obtained by the researchers and the future scope of the research.

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“…CF is the most common autosomal recessive disease in individuals of European descent and is characterized by chronic lung disease, pancreatic insufficiency, elevated sweat chloride concentration levels, and obstructive azoospermia ( Gajbhiye and Gaikwad, 2017 ). In addition, epidemiological studies conducted over the last 2 decades have demonstrated that CF occurs more commonly than previously thought in populations of non-European descent, and the disease is now recognized in many parts of the world ( Bell et al, 2020a ).…”

Section: Introductionmentioning

confidence: 99%

“…In addition, epidemiological studies conducted over the last 2 decades have demonstrated that CF occurs more commonly than previously thought in populations of non-European descent, and the disease is now recognized in many parts of the world ( Bell et al, 2020a ). It is estimated that CF affects approximately 72,000 patients worldwide ( Hammoudeh et al, 2021 ), with a rate of 1/2000 in European ancestry populations ( Gajbhiye and Gaikwad, 2017 ), an incidence of 1 in 12,000 in South Africa’s mixed ancestry population ( Carles et al, 1996 ; Feuillet-Fieux et al, 2004 ) and an incidence of 1 in 14,000 in African American black people. However, the occurrence of CF in black African populations with no European ancestry contribution is unknown ( Carles et al, 1996 ).…”

Section: Introductionmentioning

confidence: 99%

The burden of cystic fibrosis in North Africa

El Makhzen,

Daimi,

Bouguenouch

et al. 2024

Front. Genet.

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Background: Over 200 pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with cystic fibrosis (CF)—the most prevalent autosomal recessive disease globally, the p.Phe508del variant being the most commonly observed.Main text: Recent epidemiological studies suggest a higher global prevalence of CF than previously thought. Nevertheless, comprehensive CF data remains extremely scarce among African populations, contributing to a significant information gap within the African healthcare system. Consequently, the underestimation of CF among children from African populations is likely. The goal of this article is to review the pathogenesis of CF and its prevalence in the countries of North Africa.Conclusion: The prevalence of CF in North African countries is likely underestimated due to the complexity of the disease and the lack of a timely, proper clinical and genetic investigation that allows the early identification of CF patients and thus facilitates therapeutic recommendations. Therefore, specific genetic and epidemiological studies on African individuals showing CF symptoms should be conducted to enhance the diagnostic yield of CF in Africa.

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Cystic Fibrosis, CFTR Gene, and Male Infertility

Cited by 5 publications

References 69 publications

Clinical presentations and semen characteristics of men attending the secondary referral infertility clinic at Mumbai, India

Clinical presentations and semen characteristics of men attending the secondary referral infertility clinic at Mumbai, India

Real Time Yoga Pose Detection Using Deeplearning: A Review

The burden of cystic fibrosis in North Africa

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