Late diagnosis of partial 3ß-hydroxysteroid dehydrogenase type 2 deficiency - characterization of a new genetic variant.

Summary: Congenital adrenal hyperplasia (CAH) is one of the most common inherited rare endocrine disorders. This case report presents two female siblings with delayed diagnosis of non-classical CAH 3ß-hydroxysteroid dehydrogenase type 2 (3ßHSD2D/HSD3B2) despite early hospital admission and apparent CAH manifestations such as infections, hirsutism, menstrual disturbances, and PCOS phenotype. Initially, sister 1 was misdiagnosed with PCOS and then 11-hydroxylase deficiency (CYP11B1), based on ultrasound, biochemical findings, and negative genetic testing for 21-hydroxylase deficiency (CYP21A2). Additional diagnostic workup was performed when sister 2also presented with symptoms of androgen excess. Genetic testing for CAH/steroid disorders finally revealed that both siblings were compound heterozygous for two variants in the HSD3B2 gene: a frameshift variant, c.558dup, p.(Thr187Hisfs*17) and a novel missense variant, c.65T>C, p.(Leu22Ser). A Synacthen test showed an insufficient cortisol increase. In vitro studies of the variants in a cell model revealed loss of function for the p.(Thr187Hisfs*17) and partial activity for p.(Leu22Ser) confirming non-classic CAH. Overlapping symptomatology and lack of specialized knowledge on steroid biosynthesis and associated rarest forms of CAH may explain the delayed diagnosis. However, with newer diagnostic methods comprising a less biased approach, very rare forms of non-classical CAH may no longer be overlooked in the future. Learning points: Non-classic 3ßHSD2 is likely underdiagnosed. Late diagnosis of mild non-classic 3ßHSD2 does occur and one should be aware of this diagnosis. Early diagnosis of NCCAH may prevent many consequences such as severe hirsutism, prolonged menstrual irregularities, infertility, or even adrenal crisis with severe infections. Comprehensive steroid profiling and genetic testing should be used earlier, especially when in doubt about a diagnosis.

Association of second and fourth digit (2D:4D) ratios with metabolic syndrome and cardiovascular disease risk.

BACKGROUND: The study aimed to investigate the association of second and fourth-digit (2D:4D) ratios with metabolic syndrome (MS) and cardiovascular disease risk (CVR). METHOD: This case-control study was conducted between February and March 2024 with 200 participants (100 patients +100 controls). Biochemical parameters (glucose, total cholesterol, HDL, LDL, triglycerides, haemogram, HbA1C) were recorded. All participants were evaluated in terms of MS diagnostic criteria. CVR was calculated with the ESC CVD Risk Calculator. Second-digit and fourth-digit measurements were performed and the 2D:4D ratio of both hands and the difference between 2D:4D of both hands (Dr-l) were obtained. The relationship between 2D:4D and MS, CVR, and gender was evaluated. p < .05 was considered statistically significant. RESULTS: Forty-one percent of the study participants were male. The right-hand 2D:4D (R2D:4D) ratio was 1.009 ± 0.04 and the left-hand 2D:4D (L2D:4D) ratio was 0.991 ± 0.04 (p < .001). R2D:4D ratio was 1.010 ± 0.04 in women and 0.985 ± 0.03 in men (p = .019). R2D:4D (p < .001), Dr-l (p = .001), and CVR (p < .001) were significantly higher in men with MS (+) compared to MS (-). CONCLUSION: In our study, the R2D:4D ratio was found to be associated with MS and CVR in men. Low intrauterine androgen exposure may affect the development of MS, but this effect is more prominent in males.

Is nociplastic pain, a new pain category, associated with biochemical, hematological, and inflammatory parameters?

OBJECTIVE: The aim of the study was to evaluate the relationship between biochemical, hematological, and inflammatory parameters and pain in patients with nociplastic pain. METHODS: In this cross-sectional study, a total of 8632 patients, aged between 20 and 65, were evaluated according to the nociplastic pain diagnosis criteria determined by IASP. Excluding individuals who did not meet the criteria for nociplastic pain, the study included a total of 660 participants. The biochemical, hematological, and inflammatory parameters of all individuals were examined. The pain levels of the patients were assessed using the Visual Analogue Scale (VAS). The patients were categorized based on nociplastic pain types and pain regions for evaluation. RESULTS: In this study, the female gender was more prevalent both in all nociplastic pain categories and in all pain region groups (p < 0.05). In the nociplastic pain categories, it was observed that vitamin D levels were lower in patients with chronic widespread pain, while ferritin and C-reactive protein levels were higher in patients with chronic primary musculoskeletal pain. Among patients with chronic widespread pain with low hemoglobin and/or ferritin levels, the Visual Analog Scale activity score was higher. For patients with chronic widespread pain and low vitamin D levels and/or high erythrocyte sedimentation rate levels, the Visual Analog Scale rest score was higher. In patients with fibromyalgia and high parathyroid hormone levels, the Visual Analog Scale activity score was higher. For patients with fibromyalgia and high Neutrophil/Lymphocyte ratio levels, the Visual Analog Scale rest score was higher. In patients with chronic primary musculoskeletal pain and high erythrocyte sedimentation rate and/or C-reactive protein levels, the Visual Analog Scale activity score was higher. While vitamin B12 levels were found to be lower in patients with widespread pain, no significant relationship was identified between electrolytes, other blood count results, and nociplastic pain. CONCLUSION: In our study, it was observed that levels of vitamin D in individuals with nociplastic pain were low, while erythrocyte sedimentation rate, C-reactive protein, and Neutrophil/Lymphocyte ratio were high, and hemoglobin and ferritin levels were elevated. Furthermore, these findings were found to be associated with both the presence of pain and the severity of pain assessed using the visual analog scale.

Assessment of Cognitive and Mood Changes in Older Survivors of COVID-19: A Year's Follow-up.

ABSTRACT: The long-term effects of coronavirus disease 2019 (COVID-19) infection are not fully known. In this study, we aimed to evaluate cognitive function and mood changes with 1-year follow-up in the elderly after COVID-19 disease. Ninety COVID-19 survivors and 90 healthy controls were included in the study between April 2022 and 2023. The patients were evaluated at the 1st, 6th, and 12th months for cognition, depression, and sleep quality. Cognitive function is assessed by the Montreal Cognitive Assessment (MoCA), sleep quality by the Pittsburgh Sleep Quality Index, and depression by the Yesavage Geriatric Depression Scale. COVID-19 survivors secured lower scores in certain domains of the MoCA in comparison with the controls at the first and sixth months. However, at the 12th month, no difference was observed in total MoCA ( p = 0.100), Yesavage Geriatric Depression Scale ( p = 0.503), and Pittsburgh Sleep Quality Index ( p = 0.907) between survivors and controls. Older patients who recovered from COVID-19 have lower cognitive function compared with controls up to 12 months. However, cognitive function scores were similar at the end of the first year except for memory scores.

The Relationship Between Nomophobia and Anxiety Levels in Healthy Young Individuals.

The current study was performed to determine whether there is a relationship between nomophobia (i.e., fear of being without a mobile phone or disconnected from mobile phone communication) levels and anxiety among healthy young individuals and whether nomophobia affects work or academic life. Three hundred sixty young individuals with no health problems were included in the study. The Nomophobia Questionnaire (NMP-Q) and Beck Anxiety Inventory (BAI) were used to measure participants' nomophobia levels. There was a statistically significant relationship between NMP-Q and BAI scores in the male group. As NMP-Q scores increased, BAI scores also increased. However, we could not find such a relationship in the female group. We have shown that individuals who do not have their mobile phones with them experience anxiety that affects their work and/or academic life. Efforts should be made to raise awareness of nomophobia, which concerns not only individuals but society as a whole. [Journal of Psychosocial Nursing and Mental Health Services, 59(8), 23-30.].

The effect of diet and regular exercise on psychological resilience in obese or overweight women.

AIM: This study aimed to investigate the effects of diet and regular exercise on resilience in obese or overweight women. METHODS: The study was conducted with the 109 patients who applied to the obesity polyclinics. The patients were divided into three groups by their current disease conditions and willingness; those who were willing to both diet and exercise (diet + exercise group) (n: 35), those who were willing to only diet (diet group) (n: 37) and those who were not willing to recommended diet or exercise (control group) (n: 37). The "Connor-Davidson Resilience Scale" (CD-RISC) was applied to all the participants through face-to-face interviews. The CD-RISC scale was repeated 8 weeks after the first evaluation. RESULTS: There was a significant difference between the total score and subscores of the scale in the intra-group comparison before and after the intervention (P < .05). When the groups were compared after the intervention, a significant difference was found between the diet group and the control group as well as the exercise +diet group and the control group (P < .05). CONCLUSION: We found that diet and exercise practices increased psychological endurance in obese or overweight women. In addition, positive improvements were also detected in psychological resilience subgroups such as perseverance and personal competence, tolerance to negative events and spiritual disposition.

Mortality rate trends in patients diagnosed with schizophrenia or bipolar disorder: a nationwide study with 20 years of follow-up.

BACKGROUND: Patients with severe mental illness (SMI) have a reduced life expectancy of one to two decades as compared to the general population, with most years of life lost due to somatic diseases. Most previous studies on disorders constituting SMI, e.g. schizophrenia and bipolar disorder, have investigated the disorders separately and hence not compared the disorders in terms of mortality rates relative to the background population. METHODS: A register-based cohort study including the entire Danish population comparing mortality rates relative to the background population, controlling for age and sex, i.e. standardized mortality ratios (SMRs) in patients diagnosed with schizophrenia with those in patients diagnosed with bipolar disorder, during the study period from 1995 to 2014. RESULTS: The SMR of patients with SMI was significantly higher than one for each calendar year in the study period with an overall SMR of 4.58, 95% CI (4.48-4.69) in patients diagnosed with schizophrenia (n = 38,500) and of 2.57 (95% CI 2.49-2.65) in patients diagnosed with bipolar disorder (n = 23,092). When investigating time trends in SMR for schizophrenia and for bipolar disorder, respectively, an increase in SMR over time was shown with a mean increase of 0.03 per year for schizophrenia and 0.02 for bipolar disorder (p < 0.01 for both disorders). The ratio between SMR for schizophrenia and SMR for bipolar disorder for each calendar year over the study period was constant (p = 0.756). CONCLUSIONS: Increasing SMRs over the last 20 years were found for both patients diagnosed with bipolar disorder and patients diagnosed with schizophrenia. Despite clear differences between the two disorders regarding SMRs, the increases in SMR over time were similar, which could suggest similar underlying factors influencing mortality rates in both disorders.