Isolated Ocular Relapse of Acute Myeloid Leukaemia Post Allogeneic Stem Cell Transplant.

We present a rare case of a 39-year-old female with extramedullary relapse of acute myeloid leukaemia (AML) isolated to the left eye 2 months post allogeneic haematopoietic stem cell transplant. She initially presented with painless left eye erythema, swelling, and visual impairment. Initial ophthalmology review revealed conjunctival chemosis, raised intraocular pressure, and serous retinal detachments. She was initially treated for suspected orbital cellulitis with intravenous antibiotic and antifungal therapy but clinically progressed so was then treated with intravenous corticosteroids. One week later, she progressed to angle-closure glaucoma with development of a hypopyon and an enlarging subconjunctival mass. She proceeded to urgent subconjunctival biopsy and drainage of subretinal fluid which confirmed extramedullary relapse of AML. Notably, further investigation found no evidence of bone marrow or central nervous system relapse. She proceeded to localized radiotherapy with gradual resolution of the subconjunctival mass and serous retinal detachment and was for consideration of donor lymphocyte infusions and azacitidine therapy; unfortunately, she developed respiratory sepsis and passed away despite maximal efforts. This case represents a rare and unusual presentation of isolated ocular extramedullary relapse of AML and emphasises the importance of early ophthalmology involvement and tissue biopsy when there is high clinical suspicion of the disease.

Cross-cultural adaptation and psychometric evaluation of the Malay version of the Neck Disability Index.

PURPOSE: Translating the Neck Disability Index (NDI) into the Malay language (NDI-M); evaluation of psychometric properties in patients with neck pain. METHODS: The NDI-M was translated according to established guidelines. In the first visit, 120 participants completed the NDI-M, visual analogue scale (VAS) for pain and demographic details. 98 participants returned to complete similar questionnaires and the Global Rating of Change (GRoC) scale. The NDI-M was evaluated for internal consistency, test-retest reliability, content validity, construct validity and responsiveness. RESULTS: The NDI-M demonstrated excellent internal consistency (Cronbach's α = 0.84) and good test-retest reliability (ICC2,1 = 0.79). Content validity was confirmed with no floor or ceiling effects. Construct validity was established revealing three-factor subscales explaining 68% of the total variance. The NDI-M showed a moderate correlation with VAS (Rp = 0.49, p < 0.001). Regarding responsiveness, a moderate correlation between NDI-M change scores and VAS change scores was found (Rp = 0.40, p < 0.001). However, there was no significant correlation between NDI-M with GRoC (Rs = 0.11, p = 0.27). CONCLUSIONS: The NDI-M is a reliable and valid tool to measure functional outcomes in patients with neck pain. It is responsive in detecting changes in pain intensity during a patient's rehabilitation journey.Implications for rehabilitationThe NDI was translated into the Malay language and culturally adapted for Malay-speaking patients with neck pain.The NDI-M demonstrated an excellent level of internal consistency and good test-retest reliability. It demonstrated content and construct validity, with three-factor subscales, and moderate responsiveness for pain intensity.The NDI-M is a reliable, valid and responsive instrument to measure functional limitations in patients with neck pain for rehabilitation.

Imaging of non-specific complaints of the arm, neck, and/or shoulder (CANS): role of the scalene muscles and piercing variants in neurogenic thoracic outlet syndrome.

Complaints of the arm, neck and/or shoulder (CANS) are common in the general population (40%) and workers (30%) and have significant economic impact. Twenty-three conditions have been designated as specific CANS. Cases where no cause is identified are reported as non-specific CANS; these cases make up the majority of CANS. Non-specific CANS presentations overlap with clinical entities including cervicobrachial and scalene myofascial syndromes that are associated with neurogenic thoracic outlet syndrome (NTOS). The scalene muscles have been identified as the commonest site of NTOS, although this has been reported to be functional and in conjunction with cervicothoracic junction variants that compromise the brachial plexus lower trunk. Anatomical variants in relation to both the scalene muscles and brachial plexus are not widely recognised in the clinical and imaging literature; however, pass-through and pass-over (or "piercing") variants of the brachial plexus upper trunk and scalene muscles have been well described in the anatomical and anaesthetic literature. In this review, we demonstrate the presence and describe the imaging of scalene muscle pathology and variant muscle-brachial plexus anatomy affecting the upper trunk that are underdiagnosed causes of non-specific CANS presentations and NTOS.

A multi-site study on the impact of an advance care planning workshop on attitudes, beliefs and behavioural intentions over a 6-month period.

BACKGROUND: This study evaluated the impact of the adapted version of the Respecting Choices® The Living Matters Advance Care Planning (ACP) facilitator training programme on trainees' attitudes on facilitation 6 months post-training. SETTING AND PARTICIPANTS: Two hundred and twenty-one healthcare professionals consisting of doctors, nurses, medical social workers from different training venues in Singapore participated in the first phase of the study (pre- and post) of which 107 participated in the second phase 6 months later (follow-up). METHODS: Participants self-rated their attitudes, beliefs and behavioural intentions through surveys at three time points in an evaluation design that utilised repeated measures one-way ANOVA (pre-, post-, follow-up). Between-group differences were also examined using independent t-test. RESULTS: At follow-up, mean scores increased significantly in understanding, confidence, and competence. Changes in effect sizes were large. Although trainees continued to think that ACP is emotionally draining for facilitators, more than before, facilitation experience was considered pleasant for themselves with the positive change significant and moderate in effect size. Those who had experience completing/initiating ACP significantly held more positive views than those who did not. CONCLUSIONS: The ACP facilitator training programme had lasting effects on enhancing the understanding, competence, and confidence of trainees. Importantly, findings showed that experience in actual facilitation within 6 months after training was important and giving trainees opportunities to facilitate is recommended.

Imaging of peripheral nerve causes of chronic buttock pain and sciatica.

Chronic buttock pain is a common and debilitating symptom, which severely impacts daily activities, sleep, and may affect athletic performance. Lumbar spine, posterior hip, or hamstring pathology are usually considered as the primary diagnoses; however, pelvic neural pathology may be a significant cause of chronic buttock pain, particularly if there are prolonged (>6 months) buttock and/or radicular symptoms. The subgluteal space is the site of most pelvic causes of neural-mediated buttock pain, primarily relating to entrapment neuropathy of the sciatic nerve (deep gluteal syndrome), although other nerves within the subgluteal space including the gluteal nerves, pudendal nerve, and posterior cutaneous nerve of thigh may also be involved. Additionally, cluneal nerve entrapment at the iliac crest may result in "pseudo-sciatica". Anatomical variants of the pelvic girdle muscles and functional factors, including muscle spasm and pelvic instability, may contribute to development of deep gluteal syndrome, along with neural senescence. Imaging findings primarily relate to the presence of sciatic neuritis and peri-sciatic pathology, including neural compression and peri-neural adhesions or fibrosis. This imaging review describes the causes, magnetic resonance imaging and ultrasound imaging findings and imaging-guided treatment of pelvic neural causes of chronic buttock pain and sciatica.

[Sugar-sweetened beverages consumption in midlife and risk of late-life cognitive impairment in Chinese adults].

Objective: To evaluate whether midlife consumption of sugar-sweetened beverages (SSBs), including juices and soft drinks, were associated with late-life cognitive impairment in Chinese adults. Methods: Follow up was conducted for participants from Singapore Chinese Health Study, a population-based prospective cohort, for 16-23 (mean 20) years. The information about their SSBs consumption were collected at baseline survey from 1993 to 1998 by using a validated food frequency questionnaire and their cognition status were evaluated by using a Singapore-modified Mini-Mental State Examination Scale in the 3(rd) follow-up visit during 2014- 2016. Multivariable logistic regression models were used to estimate the ORs and 95%CIs. Results: A total of 16 948 participants were included in the analysis and 2 443 of them were identified as cognitive impairment using education-specific cutoffs. Sex, age, ancestral home, education level, physical activity level, total diet fiber intake level, BMI, alcohol drinking were significantly associated with cognitive impairment (P<0.05). After adjusted the above variables, potential dietary variables and disease status, no significant association was observed between SSBs consumption and cognitive impairment (P>0.05). Compared with those who never or hardly ever drank soft drinks, no significant differences in cognitive impairment risk were observed for those who drank soft drinks 2 or more times a week (OR=0.91, 95%CI: 0.77-1.08), those who drank 1 time a week (OR=1.00, 95%CI:0.82-1.23) and those who drank 1-3 times a month (OR=0.94, 95%CI: 0.80-1.09) (trend P=0.306). Compared with those who never or hardly ever drank juices, no significant differences in cognitive impairment risk were observed for those who drank juices 2 or more times a week (OR=1.03, 95%CI:0.88-1.20), those who drank 1 time a week (OR=0.96, 95%CI: 0.82-1.12) and those who drank 1-3 times a month (OR=0.94, 95%CI: 0.82-1.08) (trend P=0.930). No significant interactions were found with age, sex, and BMI status. Conclusion: SSBs consumption in midlife was not significantly associated with risk of late-life cognitive impairment in Singaporean Chinese adults with relatively low consumption levels. Further researches are needed to verify the results.

Pubic apophysitis in elite Australian Rules football players: MRI findings and the utility of VIBE sequences in evaluating athletes with groin pain.

AIM: To confirm that pubic apophysitis is common in Australian Rules footballers with groin pain. MATERIALS AND METHODS: Thirteen male Australian Football League (AFL) players with groin pain were assessed with volumetric interpolated breath-hold examination (VIBE) MRI over the 2017, 2018, and 2019 AFL seasons. Images were reviewed for pubic maturation, the presence of pubic apophysitis, and associated bone pathology and correlated with side of groin pain. RESULTS: Pubic apophysitis was seen in 92% of AFL players with groin pain. Delayed maturation of the pubic apophyses was observed in 85%. Pubic bone erosions and cyst-like changes were common (100% and 46%, respectively), but due to delayed maturation of the apophyses and apophysiolysis. Apophysitis associated with adductor brevis-gracilis was more common than adductor longus-associated apophysitis. CONCLUSION: Pubic apophysitis associated with delayed maturation of the pubic apophyses is common in AFL players and is potentially a significant cause of groin pain in these athletes. Imaging findings in this group are the same as those conventionally describing osteitis pubis. Pubic apophysitis is best visualised with VIBE magnetic resonance imaging (MRI) and may be a more pathologically correct description of early, adductor load-related pubic bone pathology.

FeSe quantum dots for in vivo multiphoton biomedical imaging.

An immense demand in biomedical imaging is to develop efficient photoluminescent probes with high biocompatibility and quantum yield, as well as multiphoton absorption performance to improve penetration depth and spatial resolution. Here, iron selenide (FeSe) quantum dots (QDs) are reported to meet these criteria. The synthesized QDs exhibit two- and three-photon excitation property at 800- and 1080-nm wavelengths and high quantum yield (ca. 40%), which are suitable for second-window imaging. To verify their biosuitability, poly(ethylene glycol)-conjugated QDs were linked with human epidermal growth factor receptor 2 (HER2) antibodies for in vitro/in vivo two-photon imaging in HER2-overexpressed MCF7 cells and a xenograft breast tumor model in mice. Imaging was successfully carried out at a depth of up to 500 µm from the skin using a nonlinear femtosecond laser at an excitation wavelength of 800 nm. These findings may open up a way to apply biocompatible FeSe QDs to multiphoton cancer imaging.

Parathyroidectomy versus cinacalcet for tertiary hyperparathyroidism; a retrospective analysis.

INTRODUCTION: Tertiary hyperparathyroidism (tHPT), i.e., persistent HPT after kidney transplantation, affects 17-50% of transplant recipients. Treatment of tHPT is mandatory since persistently elevated PTH concentrations after KTx increase the risk of renal allograft dysfunction and osteoporosis. The introduction of cinacalcet in 2004 seemed to offer a medical treatment alternative to parathyroidectomy (PTx). However, the optimal management of tHPT remains unclear. METHODS: A retrospective analysis was performed on patients receiving a kidney transplantation (KT) in two academic centers in the Netherlands. Thirty patients undergoing PTx within 3 years of transplantation and 64 patients treated with cinacalcet 1 year after transplantation for tHPT were included. Primary outcomes were serum calcium and PTH concentrations 1 year after KT and after PTx. RESULTS: Serum calcium normalized in both the cinacalcet and the PTx patients. PTH concentrations remained above the upper limit of normal (median 22.0 pmol/L) 1 year after KT, but returned to within the normal range in the PTx group (median 3.7 pmol/L). Side effects of cinacalcet were difficult to assess; minor complications occurred in three patients. Re-exploration due to persistent tHPT was performed in three (10%) patients. CONCLUSION: In patients with tHPT, cinacalcet normalizes serum calcium, but does not lead to a normalization of serum PTH concentrations. In contrast, PTx leads to a normalization of both serum calcium and PTH concentrations. These findings suggest that PTx is the treatment of choice for tHPT.

Effects of testosterone replacement therapy on metabolic syndrome among Japanese hypogonadal men: A subanalysis of a prospective randomised controlled trial (EARTH study).

We investigated the effects of testosterone replacement therapy (TRT) on metabolic factors among hypogonadal men with a metabolic syndrome. From the study population of the EARTH study, which was a randomised controlled study in Japan, 65 hypogonadal patients with a metabolic syndrome, comprising the TRT group (n = 32) and controls (n = 33), were included in this study analysis. The TRT group was administered 250 mg of testosterone enanthate as an intramuscular injection every 4 weeks for 12 months. Waist circumference, body mass index, body fat volume and blood pressure were measured in all patients at baseline and at 12 months. In addition, blood biochemical data, including total cholesterol, triglyceride (TG), HDL cholesterol, fasting plasma glucose (FPG) and haemoglobin A1c (HbA1c) levels, were also evaluated. Changes in these categories from baseline to 12 months were compared between the TRT and control groups, with significant differences observed in waist circumference, body fat percentage, FPG, TG and HbA1c levels. No significant differences were observed in other parameters. TRT for 1 year was associated with improvements in some metabolic factors among Japanese men with hypogonadism and metabolic syndrome.

Probabilistic dietary exposure to ethyl carbamate from fermented foods and alcoholic beverages in the Korean population.

The occurrence of ethyl carbamate was investigated in fermented foods and alcoholic beverages of the Korean total diet study. The concentrations of ethyl carbamate ranged from not detected to 166.5 µg kg-1. Dietary exposure to ethyl carbamate was estimated by the probabilistic method. Estimated intakes of ethyl carbamate from foods and alcoholic beverages were 4.12 ng kg-1 body weight (bw) per day for average consumers and 12.37 ng kg-1 bw/day for 95th percentile high consumers. The major foods contributing to ethyl carbamate exposure were soy sauce (63%), followed by maesilju (plum liqueur, 30%), whisky (5%), and bokbunjaju (black raspberry wine, 2%). On the basis of the benchmark dose lower confidence limit 10% (BMDL10) of 0.3 mg kg-1 bw/day, margins of exposure were 128,000 for mean exposure and 40,000 for 95th percentile exposure. This indicates that the exposure of the Korean general population for ethyl carbamate is of low concern. However, careful vigilance should be continued for high consumers of fermented foods and alcoholic beverages.

Associations of B cell-activating factor (BAFF) and anti-BAFF autoantibodies with disease activity in multi-ethnic Asian systemic lupus erythematosus patients in Singapore.

To measure the levels of B cell-activating factor (BAFF) and endogenous anti-BAFF autoantibodies in a cohort of multi-ethnic Asian systemic lupus erythematosus (SLE) patients in Singapore, to determine their correlation with disease activity. Serum samples from 121 SLE patients and 24 age- and sex-matched healthy controls were assayed for BAFF and anti-BAFF immunoglobulin (Ig)G antibody levels by enzyme-linked immunosorbent assay (ELISA). The lowest reliable detection limit for anti-BAFF-IgG antibody levels was defined as 2 standard deviations (s.d.) from blank. Correlation of serum BAFF and anti-BAFF IgG levels with disease activity [scored by SLE Activity Measure revised (SLAM-R)], and disease manifestations were determined in these 121 patients. SLE patients had elevated BAFF levels compared to controls; mean 820 ± 40 pg/ml and 152 pg ± 45/ml, respectively [mean ± standard error of the mean (s.e.m.), P < 0·01], which were correlated positively with anti-dsDNA antibody levels (r = 0·253, P < 0·03), and SLAM-R scores (r = 0·627, P < 0·01). In addition, SLE patients had significantly higher levels of anti-BAFF IgG, which were correlated negatively with disease activity (r = -0·436, P < 0·01), levels of anti-dsDNA antibody (r = -0·347, P < 0·02) and BAFF (r = -0·459, P < 0·01). The majority of patients in this multi-ethnic Asian SLE cohort had elevated levels of BAFF and anti-BAFF antibodies. Anti-BAFF autoantibody levels correlated negatively with clinical disease activity, anti-dsDNA and BAFF levels, suggesting that they may be disease-modifying. Our results provide further information about the complexity of BAFF pathophysiology in different SLE disease populations and phenotypes, and suggest that studies of the influence of anti-cytokine antibodies in different SLE populations will be required when selecting patients for trials using targeted anti-cytokine therapies.

Bone-density testing interval and transition to osteoporosis in patients with rheumatoid arthritis.

The study aims to evaluate the rate of transition to osteoporosis in 360 RA patients and estimate the rescreening intervals of bone mineral density (BMD) testing. Osteoporosis was newly developed in 24.8 % during mean follow-up of 7.4 years. The estimated time of a BMD testing interval was dependent on the baseline T-score in RA patients. INTRODUCTION: Although BMD testing is routinely performed in RA patients, the interval between BMD tests has not been determined. METHODS: We retrospectively recruited 360 consecutive female patients with RA, who underwent repeated BMD testing, with a mean age of 53.7 ± 10.2 years and a mean follow-up duration of 7.4 ± 5.0 years. We stratified the study participants into five groups based on their baseline T-score range. The testing interval was defined as the estimated time for 10 % of patients in each subgroup to transition to osteoporosis. Competing-risk analyses were performed with sensitivity analysis by menopausal status and risk factors for transition to osteoporosis. RESULTS: At baseline, 15 % of screened patients had osteoporosis, and during follow-up, that proportion increased to 24.8 %. The estimated BMD testing interval for 10 % of patients to develop osteoporosis was 9.6 years for those with normal BMD, 7.6 years for those with mild osteopenia, 4.7 years for those with moderate osteopenia, and 2.1 years for those with severe osteopenia. No significant risk factor for transition to osteoporosis was identified in this cohort. CONCLUSIONS: Our data indicate that osteoporosis will develop in less than 10 % of female RA patients during rescreening intervals of approximately 9 years for those with normal bone density at baseline, 7 years for those with mild osteopenia, 4 years for those with moderate osteopenia, and 2 years for those with severe osteopenia at baseline. BMD interval in RA patients could be adjusted according to their baseline BMD T-scores.

Revisiting the role of erythropoietin for treatment of ocular disorders.

Erythropoietin (EPO) is a glycoprotein hormone conventionally thought to be responsible only in producing red blood cells in our body. However, with the discovery of the presence of EPO and EPO receptors in the retinal layers, the EPO seems to have physiological roles in the eye. In this review, we revisit the role of EPO in the eye. We look into the biological role of EPO in the development of the eye and the physiologic roles that it has. Apart from that, we seek to understand the mechanisms and pathways of EPO that contributes to the therapeutic and pathological conditions of the various ocular disorders such as diabetic retinopathy, retinopathy of prematurity, glaucoma, age-related macular degeneration, optic neuritis, and retinal detachment. With these understandings, we discuss the clinical applications of EPO for treatment of ocular disorders, modes of administration, EPO formulations, current clinical trials, and its future directions.

A PLK4 mutation causing azoospermia in a man with Sertoli cell-only syndrome.

About 15% of couples wishing to have children are infertile; approximately half these cases involve a male factor. Polo-like kinase 4 (PLK-4) is a member of the polo protein family and a key regulator of centriole duplication. Male mice with a point mutation in the Plk4 gene show azoospermia associated with germ cell loss. Mutational analysis of 81 patients with azoospermia and Sertoli cell-only syndrome (SCOS) identified one man with a heterozygous 13-bp deletion in the Ser/Thr kinase domain of PLK4. Division of centrioles occurred in wild-type PLK4-transfected cells, but was hampered in PLK-4-mutant transfectants, which also showed abnormal nuclei. Thus, this PLK4 mutation might be a cause of human SCOS and nonobstructive azoospermia.

Family history of diabetes and the risk of subclinical atherosclerosis.

AIM: This study investigated the influence of a family history of diabetes on the risk of subclinical coronary atherosclerosis according to coronary computed tomography angiography (CCTA) in asymptomatic individuals. METHODS: A total of 6434 consecutive asymptomatic individuals with no prior history of coronary artery disease voluntarily underwent CCTA evaluation as part of a general health examination. Coronary atherosclerotic plaque and significant coronary artery stenosis (degree of stenosis ≥50%) on CCTA were assessed. Logistic regression analysis was used to determine the association between a family history of diabetes and atherosclerotic plaque or significant coronary artery stenosis according to the degree of diabetes (normal, prediabetic and diabetic). RESULTS: Mean age of study participants was 53.7±7.6 years, and 4694 (73.0%) were male. A total of 1593 (24.8%) participants had a family history of diabetes in a first-degree relative. Among the study participants, 1115 (17.3%), 3122 (48.5%) and 2197 (34.1%) were categorized as diabetic, prediabetic and normal, respectively. In diabetic participants, after stepwise adjustments for clinical and laboratory variables, a family history of diabetes was significantly associated with non-calcified plaque (P<0.05 for all), but did not appear to be associated with either calcified or mixed plaques or with significant coronary artery stenosis (P>0.05 for all). In prediabetic and normal participants, a family history of diabetes was not associated with either atherosclerotic plaque or significant coronary artery stenosis (P>0.05 for all). CONCLUSION: In asymptomatic diabetic individuals, a family history of diabetes is consistently associated with non-calcified coronary plaque after adjusting for risk factors.

Y chromosome haplogroup D2a1 is significantly associated with high levels of luteinizing hormone in Japanese men.

The association between the Y chromosome haplogroup D2 and risk of azoospermia and low sperm motility has been previously studied, and it was indicated that haplogroups DE (YAP lineage) are associated with prostate cancer risk in Japanese males. Our assumption had been that Y chromosome haplogroups may be associated with sex hormone levels, because sex hormones have been deemed responsible for spermatogenesis and carcinogenesis. In this study, we assessed the association between Y chromosome haplogroups and sex hormone levels, including those of testosterone, sex hormone-binding globulin (SHBG), follicle-stimulating hormone (FSH), luteinizing hormone (LH), inhibin-B, and calculated free testosterone (cFT), in 901 young men from the general Japanese population (cohort 1) and 786 Japanese men of proven fertility (cohort 2). We found that the haplogroup D2a1 was significantly associated with high LH levels in a combined analysis involving two cohorts (ß = 0.068, SE = 0.025, p = 0.0075), following correction for multiple testing. To date, this result is the first evidence that implicates Y chromosome haplogroups in an association with sex hormone levels.

Disrupted autophagy after spinal cord injury is associated with ER stress and neuronal cell death.

Autophagy is a catabolic mechanism facilitating degradation of cytoplasmic proteins and organelles in a lysosome-dependent manner. Autophagy flux is necessary for normal neuronal homeostasis and its dysfunction contributes to neuronal cell death in several neurodegenerative diseases. Elevated autophagy has been reported after spinal cord injury (SCI); however, its mechanism, cell type specificity and relationship to cell death are unknown. Using a rat model of contusive SCI, we observed accumulation of LC3-II-positive autophagosomes starting at posttrauma day 1. This was accompanied by a pronounced accumulation of autophagy substrate protein p62, indicating that early elevation of autophagy markers reflected disrupted autophagosome degradation. Levels of lysosomal protease cathepsin D and numbers of cathepsin-D-positive lysosomes were also decreased at this time, suggesting that lysosomal damage may contribute to the observed defect in autophagy flux. Normalization of p62 levels started by day 7 after SCI, and was associated with increased cathepsin D levels. At day 1 after SCI, accumulation of autophagosomes was pronounced in ventral horn motor neurons and dorsal column oligodendrocytes and microglia. In motor neurons, disruption of autophagy strongly correlated with evidence of endoplasmic reticulum (ER) stress. As autophagy is thought to protect against ER stress, its disruption after SCI could contribute to ER-stress-induced neuronal apoptosis. Consistently, motor neurons showing disrupted autophagy co-expressed ER-stress-associated initiator caspase 12 and cleaved executioner caspase 3. Together, these findings indicate that SCI causes lysosomal dysfunction that contributes to autophagy disruption and associated ER-stress-induced neuronal apoptosis.

SIN3A mutations are rare in men with azoospermia.

A loss of function of the murine Sin3A gene resulted in male infertility with Sertoli cell-only syndrome (SCOS) phenotype in mice. Here, we investigated the relevance of this gene to human male infertility with azoospermia caused by SCOS. Mutation analysis of SIN3A in the coding region was performed on 80 Japanese patients. However, no variants could be detected. This study suggests a lack of association of SIN3A gene sequence variants with azoospermia caused by SCOS in humans.