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Article ; Online: Genetic counseling for pre-implantation genetic testing of monogenic disorders (PGT-M).

Parikh, Firuza / Athalye, Arundhati / Madon, Prochi / Khandeparkar, Meenal / Naik, Dattatray / Sanap, Rupesh / Udumudi, Anuradha

Frontiers in reproductive health

2023 Volume 5, Page(s) 1213546

Abstract: Pre-implantation genetic testing (PGT) is a vital tool in preventing chromosomal aneuploidies and other genetic disorders including those that are monogenic in origin. It is performed on embryos created by intracytoplasmic sperm injection (ICSI). Genetic ...

Abstract	Pre-implantation genetic testing (PGT) is a vital tool in preventing chromosomal aneuploidies and other genetic disorders including those that are monogenic in origin. It is performed on embryos created by intracytoplasmic sperm injection (ICSI). Genetic counseling in the area of assisted reproductive technology (ART) has also evolved along with PGT and is considered an essential and integral part of Reproductive Medicine. While PGT has the potential to prevent future progeny from being affected by genetic conditions, genetic counseling helps couples understand and adapt to the medical, psychological, familial and social implications of the genetic contribution to disease. Genetic counseling is particularly helpful for couples with recurrent miscarriages, advanced maternal age, a partner with a chromosome translocation or inversion, those in a consanguineous marriage, and those using donor gametes. Partners with a family history of genetic conditions including hereditary cancer, late onset neurological diseases and with a carrier status for monogenic disorders can benefit from genetic counseling when undergoing PGT for monogenic disorders (PGT-M). Genetic counseling for PGT is useful in cases of Mendelian disorders, autosomal dominant and recessive conditions and sex chromosome linked disorders and for the purposes of utilizing
Language	English
Publishing date	2023-12-15
Publishing country	Switzerland
Document type	Journal Article ; Review
ISSN	2673-3153
ISSN (online)	2673-3153
DOI	10.3389/frph.2023.1213546
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Article ; Online: First Report of an α Chain Variant [Hb Coombe Park (

Nair, Sona B / Athalye, Arundhati S / Panphalia, Madhavi / Parikh, Firuza R

Hemoglobin

2022 , Page(s) 1–3

Abstract: Coinheritance of a high oxygen affinity structural hemoglobin (Hb) variant along with a thrombophilia marker is a rare occurrence. This may lead to a multi fold increase in the risk of thrombosis in patients. We report here a first case of Hb Coombe Park ...

Abstract	Coinheritance of a high oxygen affinity structural hemoglobin (Hb) variant along with a thrombophilia marker is a rare occurrence. This may lead to a multi fold increase in the risk of thrombosis in patients. We report here a first case of Hb Coombe Park (
Language	English
Publishing date	2022-09-19
Publishing country	England
Document type	Journal Article
ZDB-ID	750615-6
ISSN	1532-432X ; 0363-0269
ISSN (online)	1532-432X
ISSN	0363-0269
DOI	10.1080/03630269.2022.2122497
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Article: Semen proteomics reveals alterations in fertility-related proteins post-recovery from COVID-19.

Dash, Ankita / Salkar, Akanksha / Nissa, Mehar Un / Makwana, Prashant / Athalye, Arundhati / Parikh, Swapneil / Srivastava, Sanjeeva / Parikh, Firuza

Frontiers in physiology

2023 Volume 14, Page(s) 1212959

Abstract: Introduction: ...

Abstract	Introduction:
Language	English
Publishing date	2023-11-09
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2564217-0
ISSN	1664-042X
ISSN	1664-042X
DOI	10.3389/fphys.2023.1212959
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Article ; Online: Breaks and bends in sperm DNA: their impact on the future of the embryo.

Parikh, Firuza R / Athalye, Arundhati S / Kulkarni, Dhananjaya K

Fertility and sterility

2019 Volume 111, Issue 4, Page(s) 672–673

MeSH term(s)	DNA ; DNA Damage ; Embryo Implantation ; Embryonic Development ; Humans ; Male ; Spermatozoa
Chemical Substances	DNA (9007-49-2)
Language	English
Publishing date	2019-03-31
Publishing country	United States
Document type	Editorial ; Comment
ZDB-ID	80133-1
ISSN	1556-5653 ; 0015-0282
ISSN (online)	1556-5653
ISSN	0015-0282
DOI	10.1016/j.fertnstert.2018.12.024
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Article ; Online: A conserved NR5A1-responsive enhancer regulates SRY in testis-determination.

Houzelstein, Denis / Eozenou, Caroline / Lagos, Carlos F / Elzaiat, Maëva / Bignon-Topalovic, Joelle / Gonzalez, Inma / Laville, Vincent / Schlick, Laurène / Wankanit, Somboon / Madon, Prochi / Kirtane, Jyotsna / Athalye, Arundhati / Buonocore, Federica / Bigou, Stéphanie / Conway, Gerard S / Bohl, Delphine / Achermann, John C / Bashamboo, Anu / McElreavey, Ken

Nature communications

2024 Volume 15, Issue 1, Page(s) 2796

Abstract: The Y-linked SRY gene initiates mammalian testis-determination. However, how the expression of SRY is regulated remains elusive. Here, we demonstrate that a conserved steroidogenic factor-1 (SF-1)/NR5A1 binding enhancer is required for appropriate SRY ... ...

Abstract	The Y-linked SRY gene initiates mammalian testis-determination. However, how the expression of SRY is regulated remains elusive. Here, we demonstrate that a conserved steroidogenic factor-1 (SF-1)/NR5A1 binding enhancer is required for appropriate SRY expression to initiate testis-determination in humans. Comparative sequence analysis of SRY 5' regions in mammals identified an evolutionary conserved SF-1/NR5A1-binding motif within a 250 bp region of open chromatin located 5 kilobases upstream of the SRY transcription start site. Genomic analysis of 46,XY individuals with disrupted testis-determination, including a large multigenerational family, identified unique single-base substitutions of highly conserved residues within the SF-1/NR5A1-binding element. In silico modelling and in vitro assays demonstrate the enhancer properties of the NR5A1 motif. Deletion of this hemizygous element by genome-editing, in a novel in vitro cellular model recapitulating human Sertoli cell formation, resulted in a significant reduction in expression of SRY. Therefore, human NR5A1 acts as a regulatory switch between testis and ovary development by upregulating SRY expression, a role that may predate the eutherian radiation. We show that disruption of an enhancer can phenocopy variants in the coding regions of SRY that cause human testis dysgenesis. Since disease causing variants in enhancers are currently rare, the regulation of gene expression in testis-determination offers a paradigm to define enhancer activity in a key developmental process.
MeSH term(s)	Animals ; Female ; Humans ; Male ; Cell Line ; Gonadal Dysgenesis ; Mammals/genetics ; Regulatory Sequences, Nucleic Acid ; Sertoli Cells/metabolism ; Sex-Determining Region Y Protein/genetics ; Steroidogenic Factor 1/genetics ; Steroidogenic Factor 1/metabolism ; Testis/metabolism
Chemical Substances	NR5A1 protein, human ; Sex-Determining Region Y Protein ; Steroidogenic Factor 1 ; SRY protein, human ; HTRA2 protein, human (EC 3.4.21.108)
Language	English
Publishing date	2024-03-30
Publishing country	England
Document type	Journal Article
ZDB-ID	2553671-0
ISSN	2041-1723 ; 2041-1723
ISSN (online)	2041-1723
ISSN	2041-1723
DOI	10.1038/s41467-024-47162-2
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Article: Evolution and Utility of Preimplantation Genetic Testing for Monogenic Disorders in Assisted Reproduction - A Narrative Review.

Parikh, Firuza R / Athalye, Arundhati S / Kulkarni, Dhananjaya K / Sanap, Rupesh R / Dhumal, Suresh B / Warang, Dhanashree J / Naik, Dattatray J / Madon, Prochi F

Journal of human reproductive sciences

2021 Volume 14, Issue 4, Page(s) 329–339

Abstract: Preimplantation genetic testing (PGT) for monogenic disorders and assisted reproductive technology have evolved and progressed in tandem. PGT started with single-cell polymerase chain reaction (PCR) followed by ... ...

Abstract	Preimplantation genetic testing (PGT) for monogenic disorders and assisted reproductive technology have evolved and progressed in tandem. PGT started with single-cell polymerase chain reaction (PCR) followed by fluorescent
Language	English
Publishing date	2021-12-31
Publishing country	India
Document type	Journal Article ; Review
ZDB-ID	2418984-4
ISSN	1998-4766 ; 0974-1208
ISSN (online)	1998-4766
ISSN	0974-1208
DOI	10.4103/jhrs.jhrs_148_21
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Article ; Online: Hematological and Molecular Findings in the First Case of Hb J-Norfolk [HBA2: c.173G>A (or HBA1] in an Indian Patient.

Nair, Sona B / Athalye, Arundhati S / Madon, Prochi F / Das, Partha Sarathi / Parikh, Firuza R

Hemoglobin

2019 Volume 42, Issue 5-6, Page(s) 333–335

Abstract: We here report a case of a 23-year-old female from Mumbai, Maharashtra, India who was detected to carry the α chain variant Hb J-Norfolk [HBA2: c.173G>A (or HBA1]. She had no clinical symptoms and was referred to us for routine investigations and ... ...

Abstract	We here report a case of a 23-year-old female from Mumbai, Maharashtra, India who was detected to carry the α chain variant Hb J-Norfolk [HBA2: c.173G>A (or HBA1]. She had no clinical symptoms and was referred to us for routine investigations and screening. An abnormal peak was detected on both high performance liquid chromatography (HPLC) and capillary electrophoresis (CE) with a fast-moving band on cellulose acetate electrophoresis. There is no detailed study on the HPLC and CE pattern of this hemoglobin (Hb) variant, and therefore, this study will help in detecting and avoiding missing these variants during routine investigations and population screening. This is the first report of this variant in the Indian population.
MeSH term(s)	Chromatography, High Pressure Liquid ; Electrophoresis, Capillary ; Female ; Hemoglobin J/genetics ; Hemoglobins, Abnormal/genetics ; Heterozygote ; Humans ; India ; Young Adult ; alpha-Globins/genetics
Chemical Substances	Hb J-Norfolk ; Hemoglobins, Abnormal ; alpha-Globins ; Hemoglobin J (58128-48-6)
Language	English
Publishing date	2019-01-16
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	750615-6
ISSN	1532-432X ; 0363-0269
ISSN (online)	1532-432X
ISSN	0363-0269
DOI	10.1080/03630269.2018.1561462
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Article ; Online: Semen Proteomics of COVID-19 Convalescent Men Reveals Disruption of Key Biological Pathways Relevant to Male Reproductive Function.

Ghosh, Susmita / Parikh, Swapneil / Nissa, Mehar Un / Acharjee, Arup / Singh, Avinash / Patwa, Dhruv / Makwana, Prashant / Athalye, Arundhati / Barpanda, Abhilash / Laloraya, Malini / Srivastava, Sanjeeva / Parikh, Firuza

ACS omega

2022 Volume 7, Issue 10, Page(s) 8601–8612

Abstract: A considerable section of males suffered from COVID-19, with many experiencing long-term repercussions. Recovered males have been documented to have compromised fertility, albeit the mechanisms remain unclear. We investigated the impact of COVID-19 on ... ...

Abstract	A considerable section of males suffered from COVID-19, with many experiencing long-term repercussions. Recovered males have been documented to have compromised fertility, albeit the mechanisms remain unclear. We investigated the impact of COVID-19 on semen proteome following complete clinical recovery using mass spectrometry. A label-free quantitative proteomics study involved 10 healthy fertile subjects and 17 COVID-19-recovered men. With 1% false discovery rate and >1 unique peptide stringency, MaxQuant analysis found 1099 proteins and 8503 peptides. Of the 48 differentially expressed proteins between the healthy and COVID-19-recovered groups, 21 proteins were downregulated and 27 were upregulated in COVID-19-recovered males. The major pathways involved in reproductive functions, such as sperm-oocyte recognition, testosterone response, cell motility regulation, adhesion regulation, extracellular matrix adhesion, and endopeptidase activity, were downregulated in COVID-19-recovered patients according to bioinformatics analysis. Furthermore, the targeted approach revealed significant downregulation of semenogelin 1 and prosaposin, two proteins related to male fertility. Therefore, we demonstrate the alteration of semen proteome in response to COVID-19, thus disrupting the male reproductive function despite the patient's clinical remission. Hence, to understand fertility-related biological processes triggered by this infection, a protracted evaluation of the consequences of COVID-19 in recovered men is warranted.
Language	English
Publishing date	2022-03-07
Publishing country	United States
Document type	Journal Article
ISSN	2470-1343
ISSN (online)	2470-1343
DOI	10.1021/acsomega.1c06551
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Article ; Online: Detection of a novel mutation in NLRP3/CIAS1 gene in an Indian child with Neonatal-Onset Multisystem Inflammatory Disease (NOMID).

Nair, Sona B / Chavan, Pallavi Pimpale / Athalye, Arundhati S / Aksentijevich, Ivona / Khubchandani, Raju P

Clinical rheumatology

2018 Volume 38, Issue 2, Page(s) 403–406

Abstract: Neonatal-Onset Multisystem Inflammatory Disease (NOMID) or Chronic Infantile Neurologic Cutaneous Articular (CINCA) syndrome is a monogenic autoinflammatory disorder characterized by urticarial skin rash, fever, chronic meningitis and joint ... ...

Abstract	Neonatal-Onset Multisystem Inflammatory Disease (NOMID) or Chronic Infantile Neurologic Cutaneous Articular (CINCA) syndrome is a monogenic autoinflammatory disorder characterized by urticarial skin rash, fever, chronic meningitis and joint manifestations. Here we report a case of an Indian male child who presented at the age of 9 months with fever, respiratory distress, urticarial skin rash, arthritis, and neuroregression. Suspecting NOMID/CINCA syndrome, the child's blood was sent to the Jaslok Hospital and Research Centre for mutation analysis of the CIAS1/NLRP3 gene. The DNA was screened for mutations in exon 3 of CIAS1/NLRP3 gene by automated Sanger sequencing. DNA sequencing showed a novel heterozygous c.1813A➔G, p.R605G mutation in exon 3 of CIAS1/NLRP3 gene (ref no NM_001243133.1). His parents tested negative for this mutation. We therefore identified a novel de novo mutation in this family in the CIAS1/NLRP3 gene responsible for the child's clinical features.
MeSH term(s)	Cryopyrin-Associated Periodic Syndromes/genetics ; Cryopyrin-Associated Periodic Syndromes/physiopathology ; DNA Mutational Analysis ; Humans ; India ; Infant ; Male ; Mutation ; NLR Family, Pyrin Domain-Containing 3 Protein/genetics
Chemical Substances	NLR Family, Pyrin Domain-Containing 3 Protein ; NLRP3 protein, human
Language	English
Publishing date	2018-07-31
Publishing country	Germany
Document type	Case Reports ; Journal Article
ZDB-ID	604755-5
ISSN	1434-9949 ; 0770-3198
ISSN (online)	1434-9949
ISSN	0770-3198
DOI	10.1007/s10067-018-4225-9
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Article: Anti-Mullerian Hormone Levels in Indian Women Seeking Infertility Treatment: Are Indian Women Facing Early Ovarian Senescence?

Palgamkar, Jyotshna B / Jindal, Deepika K / Sawkar, Sujatha V / Deshmukh, Sangeeta D / Katakdhond, Mamta S / Ishwar, Chitrarekha P / Athalye, Arundhati S / Shah, Nilesh J / Parikh, Firuza R

Journal of human reproductive sciences

2021 Volume 14, Issue 4, Page(s) 380–385

Abstract: Background: Antimullerian hormone (AMH) is a key marker of ovarian reserve and predictor of response to fertility treatment.: Aim: To understand the prevalence of low ovarian reserve in Indian women seeking infertility treatment, compare their AMH ... ...

Abstract	Background: Antimullerian hormone (AMH) is a key marker of ovarian reserve and predictor of response to fertility treatment. Aim: To understand the prevalence of low ovarian reserve in Indian women seeking infertility treatment, compare their AMH with age-matched fertile Indian controls and understand ethnic differences with Caucasian women. Setting and design: Retrospective observational study done as collaboration between our Materials and methods: Women aged 20-44 years were selected as Group A (seeking infertility treatment Statistical analysis: Descriptive statistics and Chi-square test. Results: In Group A, 28.7%, 48.7% and 70.6% of women aged <30 years, 30-34 years and 35-39 years had serum AMH levels ≤2 ng/mL and the proportions were higher than Group B. The rate at which median AMH decreased was 1.1-2 times faster in Group B as compared to Group C. The decrease in median AMH across age groups in Group A was similar to Group B. Conclusions: Indian women in their late twenties and early thirties visiting fertility centers showed a worrisome trend of low AMH. Our study can be used as a reference for those women considering postponing pregnancy. It may be time to look at intangible cultural factors linked to social habits, ethnicity, diet, genetic predispositions, and environmental factors like endocrine disrupting chemicals contributing to premature ovarian senescence.
Language	English
Publishing date	2021-12-31
Publishing country	India
Document type	Journal Article
ZDB-ID	2418984-4
ISSN	1998-4766 ; 0974-1208
ISSN (online)	1998-4766
ISSN	0974-1208
DOI	10.4103/jhrs.jhrs_71_21
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