Syndrome In Men Research Articles

Unravelling the connection: papillary thyroid carcinoma in MEN1 syndrome

Unravelling the connection: papillary thyroid carcinoma in MEN1 syndrome

Unraveling MEN syndrome: how genetic testing illuminates complex family histories and improves patient outcomes

Unraveling MEN syndrome: how genetic testing illuminates complex family histories and improves patient outcomes

Correlation study and full management of metabolic syndrome and sperm DNA fragmentation index, a regional multicentre prospective long term follow-up study from Anhui, China

ObjectiveTo investigate the correlation between Metabolic syndrome (Mets) and Sperm DNA fragmentation index (DFI) in men of reproductive age, and to summarise the Mets and metabolic component health management model in men.MethodsThe Male Reproductive Health Follow-up Database in Bozhou City, Anhui Province, China (2020–2024) included in the study 1,008 outpatient cases of men with reproductive age,in which normal sperm DFI was the Control group (n = 858) and abnormal DFI was the Observation group (n = 150), and the general data, metabolic endocrine related indicators, and indicators related to fertility assessment were analysed in both groups, and fertility and metabolic indicators were followed up. Spearman rank correlation coefficient was used for correlation analysis, segmented package for threshold analysis, Bootstrap sampling method and Bayesian method for mediation effect test analysis. Univariate-multivariate logistic regression analyses were performed to build a predictive model using R Programming Language (4.42), and to plot the Nomogram, Calibration Curve, Decision Curve Analysis (DCA) Curve, and Clinical impact curve (CIC) to assess the consistency between the predicted probability of the model and the actual occurrence probability, as well as to evaluate the practicality and applicability in clinical decision-making.ResultsIntergroup comparison between the observation and control groups in this study showed no statistical difference between the two groups in terms of baseline information and fertility assessment (P > 0.05). However, there was statistical difference between the two groups in MetS and metabolic scores (P < 0.001). One-way ANOVA showed a statistically significant difference between DFI and MetS scores (P = 0.021), and two-way comparisons showed a statistically significant difference between the groups with 0–4 points (P < 0.05). There was a moderate-strength positive correlation between metabolic score and DFI by Spearman’s correlation analysis (r = 0.475, P < 0.001). Overall, DFI and MetS were positively associated [OR (95%CI):1.09 (1.07–1.11)] when DFI< 32.26 [OR (95%CI): 1.15 (1.12–1.19)]. In the overall analysis, the association between MetS and adverse maternity outcomes was statistically significant (OR = 1.50, 95% CI: 1.01–2.22, P = 0.045). In the sperm DFI subgroup, the association of MetS with adverse maternity outcomes was significant in both DFI ≤15 and DFI >30 (15: OR = 2.51, 95%CI: 1.01–6.22, P = 0.047; >30:OR = 2.94, 95%CI: 1.19–7.22, P = 0.019), and subgroup analyses of age showed significant association between MetS and adverse maternity outcomes in age >30 years (OR = 1.94, 95% CI: 1.13–3.33, P = 0.016). The results of the mediated analysis pathway showed that obesity and hyperlipidaemia lead to sperm DFI abnormalities, which indirectly contribute to adverse maternity outcomes, but it has not been proven that sperm DFI abnormalities contribute to the occurrence of adverse maternity outcomes. The results of multifactorial logistic regression analysis showed that varicocele (OR = 1.975), obesity (OR = 2.296), hyperlipidaemia (OR = 2.422), and Low-HDL (OR = 3.654) were the independent risk factors for abnormal sperm DFI. And effective interventions for the group with abnormal sperm DFI could significantly reduce sperm DFI values and metabolic scores (P < 0.001). The predictive model has been validated to show positive predictive efficacy and clinical benefit.ConclusionMetS may lead to abnormal sperm DNA fragmentation indices, which in turn suggests that abnormal sperm DFI due to MetS may be a risk factor for male infertility and spousal adverse maternity, and that effective interventions to reduce sperm DFI values and metabolic scores are necessary and urgent. This study is part of the China Anhui Regional Male Fertility Survey Phase I (2020–2024).

The state of evidence in acupuncture: A review of metaanalyses and systematic reviews of acupuncture evidence (update 2017-2022).

The state of evidence in acupuncture: A review of metaanalyses and systematic reviews of acupuncture evidence (update 2017-2022).

Blunted cortisol as a biomarker of depression based on the attenuation hypothesis: A Mendelian randomization analysis using depression as exposure.

Blunted cortisol as a biomarker of depression based on the attenuation hypothesis: A Mendelian randomization analysis using depression as exposure.

Prevalence and Genetics of "De Novo" Men2 Syndromes.

Hereditary medullary thyroid carcinoma (MTC) is an inherited syndrome accounting for 25% of MTC cases. It is caused by germline RET mutations, which can be inherited or occur de novo. This study aimed to define the prevalence and genetics of de novo MEN2 syndromes, which are not yet fully understood, and to characterize the parental origin of the RET de novo mutation. We selected 152 out of 215 families with hereditary MTC. In de novo cases, we sequenced the wild-type and mutated alleles of the index cases and compared their SNP profiles with those of their parents. Digital droplet PCR (ddPCR) was performed to determine the presence of mosaicism in both the index case and the parents. In 24 out of 152 (15.78%) families, the index case had a de novo mutation. SNP analysis demonstrated that in all cases, the mutation occurred on the paternal allele. The absence of mosaicism supported the hypothesis that the mutation occurred during spermatogenesis. The mean age of fathers at the time of conception was, in some cases but not all, relatively advanced. The prevalence of de novo hereditary MEN2 syndromes was approximately 16%, including MEN2B, and around 9% for other phenotypes. All de novo cases were of paternal origin and likely resulted from an acquired alteration in sperm DNA. The possible role of advanced paternal age in promoting de novo mutations could not be ruled out.

Dissecting genetic regulation of metabolic coordination.

Understanding genetic regulation of metabolism is critical for gaining insights into the causes of metabolic diseases. Traditional metabolome-based genome-wide association studies (mGWAS) focus on static associations between single nucleotide polymorphisms (SNPs) and metabolite levels, overlooking the changing relationships caused by genotypes within the metabolic network. Notably, some metabolites exhibit changes in correlation patterns with other metabolites under certain physiological conditions while maintaining their overall abundance level. In this manuscript, we develop Metabolic Differential-coordination GWAS (mdGWAS), an innovative framework that detects SNPs associated with the changing correlation patterns between metabolites and metabolic pathways. This approach transcends and complements conventional mean-based analyses by identifying latent regulatory factors that govern the system-level metabolic coordination. Through comprehensive simulation studies, mdGWAS demonstrated robust performance in detecting SNP-metabolite-metabolite associations. Applying mdGWAS to genotyping and mass spectrometry (MS)-based metabolomics data of the METabolic Syndrome In Men (METSIM) Study revealed novel SNPs and genes potentially involved in the regulation of the coordination between metabolic pathways.

The association between testosterone deficiency and metabolic syndrome in middle-aged and elderly men in Korea: a comparative analytical cross-sectional study.

The association between testosterone deficiency and metabolic syndrome in middle-aged and elderly men in Korea: a comparative analytical cross-sectional study.

Mirrored Metastatic Neuroendocrine Tumor in a Mother-Daughter Duo With Mutations in the MEN1 Gene.

Multiple endocrine neoplasia (MEN) 1 syndrome may present with either of any or all neuroendocrine tumors (NETs), parathyroid and pituitary adenoma. There is a paucity of data on the intronic and exonic mutations in the MEN1 gene associated with the MEN1 syndrome. We present an interesting study of a mother-daughter duo of MEN1 who had a similar lesions distribution of metastatic NET and underwent genetic analysis to reveal a rare mutation in the MEN1 gene and both first-degree relatives presented with metastatic NET without any other syndromic manifestation of MEN1 syndrome. Both patients received peptide receptor radionuclide therapy.

Quantification and identification of pharmacological and psychological components of the androgen withdrawal syndrome in men: a community-dwelling cross-sectional study

Quantification and identification of pharmacological and psychological components of the androgen withdrawal syndrome in men: a community-dwelling cross-sectional study

Evaluation of concomitant treatment for Chronic Pelvic Pain Syndrome.

Chronic prostatitis/Chronic Pelvic Pain Syndrome (CP/CPPS) is a common and challenging condition with no consensus on the best treatment. Also, based on a search in reputable scientific databases, it was found that so far, no study has been conducted to evaluate the response to treatment with concomitant use of tamsulosin, levofloxacin, and celecoxib in chronic pelvic pain syndrome in men. Ninety six male patients under 40 years of age with chronic pelvic pain syndrome who met the inclusion criteria and exclusion criteria were included in the study. Patients (there was only one group of patients in this study) were treated simultaneously with 3 drugs tamsulosin (0.4 mg), levofloxacin (500 mg), and celecoxib (200 mg) for 1 month and after 1 month of treatment response to treatment (pain relief) according to age factors. Weight, underlying disease, smoking, BMI, prostatitis family history, and education were recorded by the researcher in preprepared data collection forms. The results and information obtained were entered into statistical software and analyzed. About 42.7% of patients experienced pain relief after treatment. Age, smoking, and family history of prostatitis showed significant relationships with pain reduction. Weight gain decreased the chances of pain reduction (OR = 0.303), while increased BMI (OR = 0.476) and smoking (OR = 0.801) also negatively influenced pain relief. The results of this study showed that the concomitant use of tamsulosin, levofloxacin and celecoxib in patients with chronic pelvic pain syndrome had acceptable results in reducing the symptoms of patients.

A Comprehensive Review on Stone Man Syndrome

Stone Man Syndrome also called as Fibrodysplasia ossificans progressiva (FOP) represents one of the most severe disorders of heterotopic ossification in humans, characterized by progressive transformation of soft tissues into bone. This rare genetic condition, affecting approximately 1 in 2 million individuals globally, results from mutations in the ACVR1 gene, which encodes the bone morphogenetic protein (BMP) type I receptor. The hallmark features include malformation of the great toes present at birth and progressive heterotopic ossification that typically begins in childhood. The heterotopic ossification follows a characteristic anatomic pattern, starting in the dorsal, axial, cranial, and proximal regions of the body, subsequently proceeding in a peripheral, ventral, and distal direction. Flare-ups often occur spontaneously or following trauma, leading to inflammation and subsequent bone formation. Early diagnosis remains crucial yet challenging, with many patients initially misdiagnosed with other conditions. Recent advances in understanding the molecular pathways involved in FOP have led to promising therapeutic strategies, including the development of ACVR1 inhibitors and the recent FDA approval of Palovarotene (SOHONOS). Management primarily focuses on preventing complications and maintaining quality of life through multidisciplinary care. Despite these advances, significant challenges remain in developing effective treatments that can halt or reverse disease progression. This paper explores the current knowledge of FOP's pathogenesis, clinical manifestations, diagnostic approaches, and therapeutic strategies, emphasizing the importance of early recognition and appropriate management to optimize patient outcomes.

Primary Hyperparathyroidism in MEN2 Syndromes.

One of the components of the classical form of MEN2 syndromes is primary hyperparathyroidism (PHP). It occurs in 20-30% of the typical MEN2A syndrome. Recently, the prevalence in ret gene carriers is rarer possibly due to the increased recognition of cases who have familial MTC only. PHP is diagnosed more frequently in association with the exon 11, 634 mutation of the ret gene-so there is phenotype/genotype correlation. The clinical manifestations of PHP in MEN2 are usually mild and the peak age of diagnosis is after the third decade. The treatment is surgical excision of the enlarged gland(s). Although there can be multigland disease in the parathyroids, it is frequently the case that both hyperplasia and adenoma may coexist, or even a single adenoma may be found during the investigation and finally during the operation. Patients with MEN2 syndromes should be screened for PHP with serum calcium measurements. The intensity of the screening should be higher in those carrying the ret mutations most frequently associated with this manifestation.

Serum CA19-9 as a predictor of incident metabolic syndrome in obese middle-aged and older men: A 9-year cohort study.

BackgroundThe status of carbohydrate antigen 19-9 (CA19-9) in metabolic syndrome (MetS) is unknown.ObjectiveTo investigate the association between serum CA19-9 levels and incident metabolic syndrome in obese middle-aged and older men.MethodsFrom 2007 to 2015, 1,750 participants were retrospectively reviewed. Health checkup data were obtained, and participants were divided into three groups based on CA19-9 levels. Various parameters including BMI, waist circumference, blood pressure, and biochemical parameters were measured. Cox regression analysis was used to assess the association between CA19-9 levels and incident MetS. The MetS diagnostic criteria were based on the National Cholesterol Education Program Adult Treatment Panel III guidelines.ResultsThe highest CA19-9 tertile was associated with an increased risk of incident MetS, high systolic blood pressure, high waist circumference, high fasting plasma glucose, low high-density lipoprotein, and high triglyceride levels. The observation period was 9 years, during which 328 (18.7%) new-onset MetS cases were identified. Subgroup analysis showed increased risk among individuals in the highest CA19-9 tertile who were obese, male, and ≥ 50 years old.ConclusionsThere is a positive correlation between serum CA19-9 levels and incident metabolic syndrome in obese middle-aged and older men.

Adiponectin/HOMA-IR ratio as a predictive biomarker of metabolic syndrome in men and women of Basrah: A step toward gender-specific risk assessment

Adiponectin/HOMA-IR ratio as a predictive biomarker of metabolic syndrome in men and women of Basrah: A step toward gender-specific risk assessment

Мужская депрессия: вымысел или клиническая реальность? Анализ феномена с позиции суицидологической практики

The existence of a connection between suicidal behavior and depressive experiences has long been established and no one is in doubt now: depressive affect mediates the action of most other predictors and factors of high suicidal risk that are known today. The existence of the male depressive syndrome is still controversial. This work is an attempt to revise existing ideas about male depression, the search of possible strong points of its early detection. Materials and methods. The article uses the results of previous studies concerning the detection of depressive experiences in young people of both sexes, students of the medical university. Statistical data of the "Ryazan Regional Clinical Psychiatric Hospital named after N.N. Bazhenov" (Ryazan) for 2023 were used to assess the gender cross-section of psychiatric treatment. The analysis of interviews with practicing psychiatrists, narcologists and psychotherapists concerning the specifics of depressive syndrome in men was carried out. Results. According to student’s self-reports, 38% of boys and 49% of girls had previously noted depressive states. The results of M.I.N.I. (an interview aimed at identifying clinically occurring depressive episodes) are also equal (24.5% and 24.65% in the anamnesis and 1.96% and 2.33% currently, respectively). The HADS data also do not reveal significant gender differences (2.45% and 1.62%, respectively). However, a subjective assessment of the depressive episodes presence in the anamnesis (two weeks or more) in a personal interview before filling out HADS and M.I.N.I. reveals twice the lower results of self-diagnosis of depression in males (which is practically not observed in the female subgroup: 10.78% and 21.40%). That is, continuous studies rather demonstrate the uniformity of the affective pathology representation in men and women with a really lower incidence of men seeking medical help, with a tendency to ignore or minimize depressive symptoms. In turn, educational and cultural factors form in men a mindset to ignore depressive experiences that create the phenomenon of male silent suffering. There are probably psychological and age-related features of male depressions that are directly related to the type of aging and value crisis periods (middle age, acceptance of non-fulfillment and fading prospects). The clinical peculiarity of depression in men is primarily due to the blurring of the "typical" clinical picture, which specialists usually focus on, the predominance of complaints of hypochondriacal, depersonalization derealization, hedonistic, amotivation and philosophical value levels, the frequency of somatic, neurological, therapeutic and other masks of "depression without depression", a noticeable tendency to rationalize symptoms and search for exogenously reactive causes of it. The selfish track of the development of depressive symptoms, the use of ineffective coping methods, the connection with alcohol abuse or formed alcohol dependence, insufficient awareness of the essence of depressive states, the frequency of primary external diagnostics (relatives, colleagues) and powerful displacing / devaluing mechanisms are not uncommon. Conclusions. Depression in men has a number of features that create significant difficulties in its timely detection and provision of adequate assistance. The observed blurring of the typical clinical picture leads to diagnostic errors and lengthening of the qualification period of the condition. The detectable affective-gender paradox of identifying depressive states is very likely related only to the peculiarities of the diagnostic approach. Keywords: depression, depression in men, hypothymia, suicide, suicide attempt, autoaggression, suicidology

An unusual case of acute respiratory distress syndrome in a young man

Acute Respiratory Distress Syndrome (ARDS) is a complex and progressive lung injury that results in respiratory failure, often caused by pulmonary or systemic disorders. We present a 32-year-old male who developed ARDS following intranasal inhalation of cocaine. Diagnosis was established thorough clinical evaluation, identification of characteristic ultrasonographic patterns, and careful exclusion of other potential causes. The patient was managed with conservative medical therapy, including non-invasive ventilation, bronchodilators, antibiotic therapy, and comprehensive supportive care. Despite initial concerns about the severity of his condition, the patient's outcome was favourable, reflecting the diverse presentations and potential reversibility of ARDS. This case highlights two main aspects: i) the critical role of emergency physicians in recognizing and managing ARDS, even when the underlying cause is not immediately apparent; and ii) the importance of considering illicit drug use as a potential trigger during the initial assessment of respiratory complications.

Increased uptake of [18F]MFBG in a patient with potential MEN2 syndrome.

Increased uptake of [18F]MFBG in a patient with potential MEN2 syndrome.

Typical tumors in multiple parathyroid gland lesions in a patient with MEN-1 syndrome

Multiple endocrine neoplasia syndrome type 1 (MEN-1) is an inherited disorder associated with mutations in the MEN1 gene and characterized by the «classic triad»: involvement of the parathyroid gland, pancreatic islet cells and anterior pituitary. The penetrance of primary hyperparathyroidism (PHPT) in MEN-1 reaches 90-100% with age. Primary hyperparathyroidism in MEN-1 is associated with polyglandular lesions, and tumors do not always develop synchronously, leading to a high incidence of disease recurrence after surgery. In MEN-1-associated PHPT, hyperplasia is most common and multiple adenomas are less common. The growth of hyperplastic cells may be diffuse, nodular or diffuse-nodular, which complicates the differential diagnosis between adenoma and diffuse-nodular hyperplasia with the presence of a single dominant nodule. Carcinomas and atypical tumors in MEN-1 are casuistically rare. We present the unique case of a young patient with a germline mutation in the MEN1 gene (c.684dup) and clinically «aggressive» course of PHPT due to atypical parathyroid tumors.

Life-style and metabolic factors do not affect risk for glioma: a prospective population-based study (The Cohort of Norway).

The identification of modifiable risk factors for intracranial glioma remains a significant challenge. While lifestyle factors and metabolic syndrome are well-established risk factors for various other cancers, their association with glioma risk remains unclear. This study aims to conduct a comprehensive analysis of lifestyle factors and metabolic factors in relation to glioma risk. The Cohort of Norway (CONOR) is a prospective, population-based health survey encompassing anthropometric measurements, blood tests and health questionnaires. CONOR data were linked to the National Cancer Registry to identify incident glioma cases. Follow-up time was calculated in person-years from the baseline examination until the date of glioma diagnosis, death, or the end of the follow-up period. Cox proportional hazards regression was used to calculate hazard ratios (HR). The study cohort included 160,938 women and men. Over 2.8 million person-years of follow-up, 319 intracranial gliomas were diagnosed. Lifestyle factors such as physical activity, alcohol consumption, smoking, and marital status were not associated with glioma risk. There was no increased glioma risk among participants with diabetes mellitus or hypertension. Furthermore, metabolic syndrome in both women and men was not associated with an elevated risk of glioma. Blood lipids, including total cholesterol, triglycerides, and HDL, were not linked to glioma risk. However, increasing LDL levels were associated with a decreased risk of glioma in men (HR per category 0.84; 95% CI 0.74-0.96), but not in women. This is the first comprehensive prospective cohort study to evaluate potentially modifiable risk factors for glioma. Our findings do not support previously suggested associations between smoking, alcohol consumption, or metabolic syndrome and glioma risk.