A contiguous microdeletion syndrome at Xp23.13 with non-obstructive azoospermia and congenital cataracts

AbstractNon-obstructive azoospermia accounts for 10 –15% of male infertility, resulting in 60% of all cases of azoospermia and affecting about 1% of the male population. About 30% of these cases are due to Y chromosome microdeletions, chromosome abnormalities, or hormonal disorders. Pathogenic variants in genes on the sex chromosomes have key roles in spermatogenic failure. The co-occurrence of azoospermia and congenital cataracts ranges between 1 in 165,000 and 1 in 500,000. Our 28-year-old patient with normal intelligence and abnormally shaped teeth presented with both disorders. A microarray revealed a microdeletion at Xp23.13 with a whole NHS gene deletion as well as a contiguous deletion of two other genes [SCML1 and RAI2]. This observation represents the first report of non-obstructive azoospermia with congenital cataracts and a contiguous deletion of the SCML1 gene, a transcript of which is exclusively expressed in the testis. SC ML1 is the putative culprit gene, which requires functional study or animal experiments. Our analysis of 60 known spermatogenesis failure-related genes by whole-exome sequencing revealed no other candidate. The Nance-Horan syndrome due to pathogenic variants in the NHS gene at Xp23.13 including whol e gene deletion does not have azoospermia as a feature. Our report adds to the completeness of genetic counseling for an individual with azoospermia and congenital cataracts.
Source: Journal of Assisted Reproduction and Genetics - Category: Reproduction Medicine Source Type: research

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CONCLUSION: When gastroenterologists encounter NAFLD/NASH patients, serum CK should be verified. If hyperCKemia, frontal baldness, a hatched face, history of cataract surgery, and grip myotonia are noted, the possibility of MD may be considered. PMID: 33033573 [PubMed]
Source: World Journal of Hepatology - Category: Gastroenterology Tags: World J Hepatol Source Type: research
Authors: Tvrdá E, Michalko J, Árvay J, Vukovic NL, Ivanišová E, Ďuračka M, Matušíková I, Kačániová M Abstract Schisandra chinensis is a woody vine native to China, Korea, and Russia, which has been used as a traditional herbal remedy to treat male infertility. As very little information is available concerning its effects on ejaculated spermatozoa, the aim of this study was to investigate the chemical, antioxidant, and antibacterial properties of the S. chinensis berry (Omija) extract followed by an assessment of its in vitro effects on bovine sperm ...
Source: Evidence-based Complementary and Alternative Medicine - Category: Complementary Medicine Tags: Evid Based Complement Alternat Med Source Type: research
Authors: Pérez Silguero D, Pérez Silguero MÁ, Pérez-Silguero Jiménez S, Encinas Pisa P Abstract The case concerns a 54-year-old woman, with a history of fibromyalgia and normal preoperative ocular and systemic study, who presented with a long-lasting disabling photophobia, after sequential bilateral cataract surgery without complications. Photophobia was accompanied by good uncorrected VA, with no pain or subjective eye discomfort, without migraine or indicators of psychic conflict. It was refractory to any prescribed treatment of the ocular surface, finally responding to oral ant...
Source: Archivos de la Sociedad Espanola de Oftalmologia - Category: Opthalmology Tags: Arch Soc Esp Oftalmol Source Type: research
Authors: Verdina T, Peppoloni C, Barbieri L, Carbotti MR, Battaglia B, Mastropasqua R, Cavallini GM Abstract Purpose: To evaluate capsulotomy shape and posterior capsule opacification (PCO) during an 18-month follow-up for bimanual femtosecond laser-assisted cataract surgery (FLACS). Methods: 74 eyes operated by a well-trained surgeon with bimanual FLACS technique using low-energy LDV Z8 (Ziemer Ophthalmic Systems AG, Port, Switzerland) were included in the study. The follow-up period was 18 ± 2 months. Another 91 eyes, which underwent standard bimanual microincision cataract surgery (B-MIC...
Source: Journal of Ophthalmology - Category: Opthalmology Tags: J Ophthalmol Source Type: research
Authors: Jackson K, Wisely CE, Davis BM, Griffin B, Kim T Abstract OBJECTIVE: To examine opioid prescribing following cataract surgery among patients who did or did not receive OMIDRIA (phenylephrine and ketorolac intraocular solution 1.0%/0.3%) referred to as "P/K." METHODS: The retrospective study compared adults over 65 without recent opioid use in the MarketScan databases who had a cataract-related surgical procedure between January 1, 2015, and July 31, 2019. Opioid prescription fills in the initial 2 and 7 days following surgery were compared between patients who did or did not receive P/K durin...
Source: Current Medical Research and Opinion - Category: Research Tags: Curr Med Res Opin Source Type: research
Publication date: Available online 8 October 2020Source: Journal of Molecular StructureAuthor(s): Jayanth Jeevanandam, R. Madhumitha, N.T. Saraswathi
Source: Journal of Molecular Structure - Category: Molecular Biology Source Type: research
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Source: Annals of Surgical Oncology - Category: Cancer & Oncology Source Type: research
Over the last years, increasing evidence has focused on crucial pathogenetic role of PRL on malignant, premalignant and benign uterine diseases. Studies in animals and humans have documented that PRL receptors (PRL-Rs) are widely expressed on uterine cells and that PRL is directly synthesized by the endometrium under the stimulatory action of progesterone. Uterine PRL secretion is finely modulated by autocrine/paracrine mechanisms which do not depend on the same control factors implied in the regulation of PRL secretion from pituitary. On the other hand, PRL is synthesized also in the myometrium and directly promotes uteri...
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
Glaucoma surgery have been developed to lower intraocular pressure in a less invasive manner than traditional glaucoma surgery. The purpose of this article is to determine the outcome of using combined phacoem...
Source: BMC Ophthalmology - Category: Opthalmology Authors: Tags: Research article Source Type: research
AbstractThe conspicuous absence of personal articulations of miscarriage in mainstream discourses attests to the stigmatised nature of the experience. Notably, there exists a growing body of infertility comics which foreground the authors ’ lived realities of miscarriage. In a close reading of select graphic memoirs such as Jenell Johnson’sPresent/Perfect, Paula Knight ’sThe Facts of Life, Phoebe Potts ’Good Eggs, and Diane Noomin ’sBaby Talk, this article examines how the authors use comics to foreground their predicament. In so doing, the essay argues that these narratives attempt to accord ...
Source: Journal of Medical Humanities - Category: Medical Ethics Source Type: research
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