Wilson Disease and the COVID-19 pandemic: exploring patients' mental health and vaccination attitudes in a longitudinal study.

Introduction: The COVID-19 pandemic significantly impacted the mental health of individuals with chronic conditions such as Wilson's Disease (WD). This study investigates stress, anxiety, depression, quality of life, cognitive function, vaccination rates, infection rates, and perceptions related to the pandemic and vaccines among WD patients. Methods: The study analyzed COVID-19 perceptions and vaccine attitudes of 62 adult WD patients enrolled in the international multisite WD Registry. A subgroup of 33 participants completed a series of mental health scales. The effect of working essentially, income loss, wellness activity initiation, and infection of COVID-19 during the pandemic was observed. Results: Results indicate that, overall, the pandemic did not exacerbate anxiety or cognitive function in WD patients but did lead to increased depression among essential workers. Patients experiencing income loss exhibited higher levels of stress and anxiety. Despite these challenges, WD patients showed high vaccination rates and positive attitudes towards vaccines. Discussion: The findings underscore the significant impact of the pandemic on the mental health of WD patients.

Waning of Humoral Immunity to Vaccine-Preventable Diseases in Children Treated for Acute Lymphoblastic Leukemia: A Single-Center Retrospective Cross-Sectional Analysis.

Objective: The survival rates of children with acute lymphoblastic leukemia (ALL) have improved over the years, but infections remain a significant cause of morbidity and mortality. Chemotherapy has a range of harmful side effects including the loss of protective antibodies against vaccine-preventable diseases. The objective of this study was to evaluate the serological status of pediatric ALL cases before and after the intensive chemotherapy. Materials and Methods: Children treated and followed up for ALL at Dokuz Eylül University were included in this retrospective cross-sectional study. Antibody levels against hepatitis A, hepatitis B, and rubella were routinely assessed both at the time of diagnosis and six months after completion of chemotherapy. However, measles, mumps, and varicella antibody levels were evaluated just six months after the treatment. Results: Seventy-eight children who completed chemotherapy for ALL were recruited. All participants had nonprotective antibody levels for at least one of the diseases. The highest seropositivity rate was found for hepatitis A (55.1%) and the lowest for measles (17.9%) after chemotherapy. Overall, 50.7%, 30.6%, and 45.7% of the patients significantly lost their humoral immunity against hepatitis B, hepatitis A, and rubella, respectively. Patients in the higher-risk group for ALL had a lower seropositivity rate than the other risk group patients. There were statistically significant relations between the protective antibody rates of hepatitis A and varicella and the age of the patients. Except for the hepatitis A vaccination, pre-chemotherapy vaccination did not affect post-chemotherapy serology. On the other hand, all children with a history of varicella before the diagnosis showed immunity after chemotherapy. Conclusion: All patients, including those previously fully vaccinated, are at great risk of infection due to the decrease in protective antibody levels after chemotherapy. There is a need for routine post-chemotherapy serologic testing and re-vaccination based on the results obtained.

Taste and smell function in Wilson's disease.

OBJECTIVE: Wilson's disease (WD) is a metabolic disorder associated with abnormal copper metabolism that results in hepatic, psychiatric, and neurologic symptoms. No investigation of taste function has been made in patients with WD, although olfactory dysfunction has been evaluated. METHODS: Quantitative taste and smell test scores of 29 WD patients were compared to those of 790 healthy controls. Taste was measured using the 53-item Waterless Empirical Taste Test (WETT®) and smell using the 40-item revised University of Pennsylvania Smell Identification Test (R-UPSIT®). Multiple linear regression analysis controlled for age and sex. RESULTS: Average WETT® scores did not differ meaningfully between WD and control subjects (respective medians & IQRs = 32 [28-42] & 34 [27-41]); linear regression coefficient = 1.19, 95% CI [-0.81, 3.19], p = 0.242). In contrast, WD was associated with significantly reduced olfactory function [respective median (IQR) R-UPSIT® scores = 35 (33-37) vs. 37 (35-38); adjusted linear regression coefficient = -1.59, 95% CI [-2.34, -0.833]; p < 0.001)]. Neither olfaction nor taste were influenced by WD symptom subtype [23 (79.3%) were hepatic-predominant; 6 (20.7%) neurologic predominant]; R-UPSIT®, p = 0.774; WETT®, p = 0.912). No effects of primary medication or years since diagnosis (R-UPSIT®, p = 0.147; WETT®, p = 0.935) were found. Weak correlations were present between R-UPSIT® and WETT® scores for both control (r=0.187, p < 0.0001) and WD (r=0.237) subjects, although the latter correlation did not reach the 0.05 α level (p = 0.084). CONCLUSION: Although WD negatively impacts smell function, taste is spared. Research is needed to understand the pathophysiologic mechanisms responsible for this divergence.

Salivary Sex Steroid Levels in Infants and Their Relation with Infantile Colic.

Background: Hypothalamic-pituitary-gonadal axis is active during minipuberty, timing of which coincides with infantile colic. To the best of our knowledge, the relationship between these entities has not been investigated yet. Methods: Saliva samples were collected from 15- to 60-day-old term infants (n=139) between 9 am and 5 pm. Group 1 included infants with infantile colic (n=68, 54.4% female). Remaining healthy infants constituted Group 2 (n=71, 47.9% female). The salivary levels of estradiol (Esal) in females and testosterone (Tsal) in males were studied in duplicate by using the ELISA method. Results: The median (25th-75th centile) age and birth week for all infants were 33 (29-43) days and 39 (38.1-40) weeks, respectively. Levels of Tsal in males [Group 1, 73.35 (59.94-117.82) pg/mL vs Group 2, 77.66 (56.49-110.08) pg/mL, p=0.956] and Esal in females [Group 1, 3.91 (2.76-5.31) pg/mL vs Group 2, 4.03 (1.63-12.1) pg/mL, p=0.683] were similar among the groups. However, only in subjects with infantile colic (Group 1), Esal and body mass index (BMI) standard deviation scores of females were slightly correlated (Group 1, rs= 0.393, p=0.016 vs. Group 2, rs= 0.308, p=0.076) and there was a significant correlation between the sampling time and Tsal in males (Group 1, rs= 0.469, p=0.009 vs. Group 2, rs= -0.005, p=0.976). Conclusions: Random salivary sex steroid levels were similar among groups. However, only in subjects with infantile colic, salivary estradiol levels in females were positively correlated with BMI and salivary testosterone levels were higher later in the day among males. Thus, sex steroid production might be altered during minipuberty in subjects with infantile colic.

Quantification of overnight urinary gonadotropin excretion predicts imminent puberty in girls: a semi-longitudinal study.

PURPOSE: We explored the alternative of using overnight fold change in gonadotropin levels by comparing the last-night-voided (LNV) and first-morning-voided (FMV) urine concentrations of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) as a conceptual analogy to the invasive gonadotropin-releasing hormone (GnRH) stimulation test setting. METHODS: We investigated the nocturnal changes in the immunoreactivity levels of urinary gonadotropins between early and late prepubertal stages as well as between early and late pubertal stages in FMV and LNV urine samples from 30 girls, of whom those who were prepubertal were further investigated through follow-up visits within the 1-year period from the start of the study. RESULTS: ROC analysis revealed that the FMV total U-LH and FMV U-FSH concentrations at or above 0.3 IU/L and 2.5 IU/L, respectively, were excellent predictors of forthcoming onset of puberty within 1 year (100% sensitivity, 100% specificity, AUC: 1.00, and n = 10, for both). FMV total U-LH concentration at or above 0.8 IU/L represented the cut-off for clinical signs of puberty. FMV/LNV total U-LH and FMV/LNV U-FSH ratios at or below 4.11 and 1.38, respectively, were also good predictors of the onset of clinical puberty within 1 year. An overnight increase (FMV/LNV ratio) in total U-LH concentrations and in the U-LH/U-FSH ratio at or below 1.2-fold in pubertal girls was associated with the postmenarcheal pubertal stage. CONCLUSION: FMV total U-LH and U-FSH above 0.3 IU/L and 2.5 IU/L, respectively, can be used as cut-off values to predict the manifestation of the clinical signs of puberty within 1 year. FMV total U-LH concentrations 0.3-0.8 IU/L and 0.6 IU/L may represent the range and the threshold, respectively, that reflect the loosening of the central brake on the GnRH pulse generator. An overnight increase of 20% or less in total U-LH concentrations and in the U-LH/U-FSH ratio in an early pubertal girl may serve as an indicator of imminent menarche, a presumed timing of which can be unraveled by future longitudinal studies.

Urine Sampling Protocol Recommendations for Reliable Determination of Total Urinary Luteinizing Hormone Immunoreactivity in the Pediatric Population.

This study investigates day-to-day variations in urinary luteinizing hormone (U-LH) concentrations in children, focusing on potential minimization or correction methods. 95 children and adolescents (51 boys, 44 girls, ages 5-17) provided daytime and evening urine samples for U-LH determinations over three consecutive days. No consistent day-to-day differences in U-LH levels were observed, although random variations, particularly in adolescents aged 13 or older, were noted. The net inter-assay CV% for U-LH changes over three days showed high variability, averaging 24.6% to 28.0% for boys and 21.6% to 27.3% for girls, independent of sex, collection time, or U-LH level. To reliably determine total urinary luteinizing hormone immunoreactivity in the pediatric population, it is advisable to collect multiple first-morning voided samples for at least three consecutive days as an interim solution, pending the development of a standardized protocol or correction method for varying urine composition. Strict adherence, especially for adolescents aged 13 or older, is vital.

Parent-reported complementary and alternative medicine use among pediatric patients with epilepsy at two tertiary centers in Turkey - Prevalence and predictors.

BACKGROUND: Complementary and alternative medicine (CAM) consists of various medical practices and products not recognized as a part of conventional medicine. There are few studies on CAMs used for childhood epilepsy. We aimed to determine the prevalence and socio-demographic factors affecting CAM use in children with epilepsy. METHODS: This is a cross-sectional prospective descriptive study. The study included all parents who agreed to participate and had children with epilepsy. The data was collected using a questionnaire developed from a literature review of CAM use in pediatric epilepsy patients. RESULTS: A total of 219 parent-child pairs were included in the study. Seventy-five participants had one or more comorbid disorders. 55.3% of participating children with epilepsy were taking more than one antiseizure medication (ASM). 30.1% of parents reported using some form of CAM for their children in the previous year. Only 60.6% of parents discussed their CAM decision with their child's doctor before using it. Univariate analysis showed that the patient's age, presence of comorbid disorders, duration of ASM, and family history of epilepsy were statistically significant predictors for CAM use. However, the presence of comorbidities was the only significant predictor of CAM use in logistic regression. CONCLUSION: Even though most parents believe CAMs have no effect on their children with epilepsy, they frequently use them. We propose that the predictors identified in this study can help to identify potential CAM users. Since most parents do not report the use of CAM, physicians should routinely inquire about CAM use.

The negative impact of levothyroxine treatment on urinary luteinizing hormone measurements in pediatric patients with thyroid disease.

Objectives: Previous studies suggest urinary luteinizing hormone (LH) and follicle-stimulating hormone (FSH) measurements by immunofluorometric assays (IFMA) as noninvasive alternatives to serum assays for puberty assessment. However, these studies excluded patients with other endocrine disorders and those taking medications. Besides, the recent discontinuation of IFMA manufacturing is a concern. We explored the utility of luminometric assays (LIA) for urinary gonadotropins and thyroid-stimulating hormone (TSH) determinations in euthyroid patients with thyroid pathologies. Methods: We used LIA and IFMA assays to measure serum and first-morning-voided (FMV) urine LH, FSH, and TSH concentrations in euthyroid patients with various thyroid disorders. Of the 47 euthyroid patients with normal serum TSH (S-TSH) levels, 14 were receiving levothyroxine therapy. Results: FMV total urinary LH (U-LH) concentrations correlated significantly with those measured in serum using either LIA (r=0.67, P<.001) or IFMA (r=0.83, P=.003) in patients not receiving levothyroxine treatment; however, no significant correlation could be detected in patients receiving levothyroxine regardless of the assay method (for LIA: r=0.50, P=.08 and IFMA r=0.44, P=.15). Urinary TSH (U-TSH) concentrations correlated poorly with those in serum in both the untreated and the treated groups (r=-0.13, P=.49, and r=-0.45, P=.11, respectively). Conclusion: FMV total U-LH determinations by LIA can be used to assess pubertal development in patients with thyroid pathology, provided the euthyroid patient is not on levothyroxine treatment. U-TSH measurements by LIA cannot replace invasive S-TSH measurements at least in patients with normal S-TSH levels. Further research may reveal the utility of U-TSH determinations in patients with elevated S-TSH levels.

Young children's sleep patterns and problems in paediatric primary healthcare settings: a multicentre cross-sectional study from a nationally representative sample.

Studies describing paediatric sleep patterns are needed by taking culture into consideration. The aim of this study was to identify parent-reported sleep-wake patterns in young children and explore possible factors influencing sleep problems. The mothers of 2,434 young children enrolled from well-child outpatient clinics in Turkey completed an online survey including sociodemographic variables, Brief Infant Sleep Questionnaire, Edinburgh Postnatal Depression Scale and Generalised Anxiety Disorder scales. Overall, young children in Turkey go to bed late (10:00 p.m.), awaken twice per night for 30 min, and obtain 11.5 h of total sleep, showing no sex-specific differences. Distinct night-time sleep patterns emerged after 18 months of age. Importantly, although currently breastfed healthy children were 3.8-times less likely to sleep through the night, total sleep duration and exclusive breastfeeding duration were higher in children who were not sleeping through the night. Overall, bedsharing was identified in 11.5%, and only room sharing was reported in 52.9%. Parental perception of a child's sleep as problematic was 35.8%. Mothers with higher educational attainment were more likely to perceive their children's sleep as a problem. Maternal depressive and anxious symptoms and a history of excessive infant crying were the determinants predicting the likelihood of both parent-perceived sleep problems and poor sleepers. The present analysis of sleep structure in infancy and toddlerhood provides reference data for well-child visits. These findings highlight the importance of considering maternal anxiety, depression and behaviour management techniques to cope with fussy infants in addressing childhood behavioural sleep problems.

Prevalence of probable attention-deficit/hyperactivity disorder in inmates and its relationship with recidivism.

The aim of the current study was to determine the prevalence of probable attention-deficit/hyperactivity disorder (ADHD) in prisoners and to assess the relationship between ADHD and recidivism. We studied 356 inmates, who were evaluated using the Wender Utah Rating Scale and Adult ADHD Self-Report Scale. Type of crime and other crime-related data were compared between inmates with and without ADHD. The group with probable ADHD had a higher average number of convictions compared to the group without ADHD. The probable ADHD group also demonstrated higher incidence of extortion crime, drug trade, disciplinary action at school, and military service than the group without ADHD. Linear regression analysis revealed that the presence of probable ADHD was effective on the number of convictions. The findings of our study support that the presence of probable ADHD carries a potential risk of being prone to certain crimes and demonstrate a correlation between the presence of probable ADHD and early involvement in crime and the number of convictions.

Urinary gonadotropin measurements by enhanced luminometric assays (LIA) for the evaluation of pubertal development.

OBJECTIVES: Determination of LH in urine has proved to be a reliable method for evaluation of pubertal development. The human LH assay based on time-resolved immunofluorometric (IFMA) technology (AutoDELFIA, PerkinElmer, Wallac) has been found to be suitable for this purpose thanks to its high sensitivity but other assays have not been evaluated. We have analyzed our data obtained by another potentially sensitive detection technique, enhanced luminometric assay (LIA) with the objective of finding a viable alternative to IFMA since these may not be available in the future. METHODS: LIA was used to measure LH and FSH in serum and urine samples from 100 healthy subjects of each Tanner stage and both genders, whose pubertal development has been determined. RESULTS: Urinary gonodotropin concentrations measured by LIA correlated well with Tanner stage [(r=0.93 for girls, r=0.81 for boys; p<0.01 for LH) and (r=0.81 for girls, r=0.73 for boys; p<0.01 for FSH)]. LIA determinations revealed the increase in U-LH concentrations during the transition from Tanner stage 1-2 in both girls and boys (p<0.001), whereas U-FSH and S-LH were able to detect the increase from Tanner stage 1-2 only in boys or girls, respectively (both p<0.001). CONCLUSIONS: Measurement of urinary gonadotropin concentrations by LIA may be useful for the evaluation of overall pubertal development and also in the detection of transition from prepuberty to puberty.

An Evaluation of Right-Sided Symptom Onset as a Predictor of Poor Parkinson's Disease Prognosis.

Objective The current study aimed to measure and compare neurological disability in Parkinson's disease (PD) patients with right-sided symptom onset with that in PD patients with left-sided symptom onset, using the measurements taken at their first and last visits, to determine if right-sided symptom onset was predictive of a poor PD prognosis. Methods One hundred and forty-three PD patients were included in the study. The Unified Parkinson's Disease Rating Scale (UPDRS) and the Hoehn and Yahr Scale were used to measure neurological disability in patients at the first and last visits. The scores for the neurological disability of patients at the first and last visits were compared retrospectively relative to disease onset. Results Seventy-six PD patients had right-sided symptom onset (53%), and 67 patients had left-sided symptom onset (47%) (p = < 0.001). The differences between the scores at the first and last visits, measured using the UPDRS and the Hoehn and Yahr Scale, were higher for PD patients with right-sided symptom onset than patients with left-sided symptom onset (p = < 0.001, p = < 0.002, respectively). Similarly, the UPDRS Part II and Part III values, used to evaluate motor function, were higher in PD patients with right-sided symptom onset as compared to those with left-sided symptom onset at the first and last visits (p = < 0.001). Conclusion Right-sided symptom onset was predictive of a poor prognosis in PD patients at follow-up.

Rare injury of the foot: Os trigonum fracture: A case report.

Os trigonum fractures are seen rarely. Our patient was a 16-year-old male patient who applied to our emergency service with right ankle pain due to acute hyperplantar flexion while playing football. There was a swelling on the right ankle and he had difficulty in walking. Os trigonum fracture was detected at lateral X-ray of the right ankle. No additional injury was detected with computed tomography and magnetic resonance imaging (MRI). Patient was treated conservatively. A short leg cast was applied. Cast was removed after six weeks and range of motion exercises were started. Union of fracture was seen on X-ray at six weeks from injury. Conservative treatment is thought to be a good option in these fractures. Computed tomography and MRI are important in the differential diagnosis and evaluation of additional injuries in this type of fracture.

Cytogenetic alterations induced by flupyradifurone, a new butenolide insecticide, in human lymphocytes.

Flupyradifurone (FPD), a member of the new class of butenolide insecticides, acts on nicotinic acetylcholine receptors. Studies on genotoxic and carcinogenic effects of FPD are very limited. This is the first study to investigate the cytotoxic and genotoxic effects of FPD and its metabolites on human lymphocyte cultures with or without a metabolic activation system (S9 mix) using chromosomal aberration (CA) and micronucleus (MN) tests. The cultures were treated with 85, 170, and 340 µg/ml of FPD in the presence (3 h treatment) and absence (48 h treatment) of S9 mix. Dimethyl sulfoxide (DMSO) was used as a solvent control. Statistically significant decreases were detected at the medium and highest concentrations for 48 h treatments while decreases in mitotic index (MI) in the presence of the S9 mix were found statistically significant at all FPD concentrations tested when compared with the solvent control. FPD also decreased the nuclear division index (NDI) at the highest concentration (340 µg/ml) in the absence of S9 mix. When compared with the solvent control, increases in CA frequencies were significant at the medium and highest concentrations. Significantly increased MN frequency was only found at the highest FPD concentration in cultures without S9 mix compared with the solvent control while increases in the MN frequencies in the presence of S9 mix were statistically significant at all FPD concentrations. The results of the present study indicate that FPD and its metabolites can show cytotoxic and genotoxic effects in human lymphocytes. More genotoxicity studies are necessary to make a possible risk assessment in humans.

Sociodemographic risk factors for febrile seizures: A school-based study from Izmir, Turkey.

PURPOSE: Despite the fact that socioeconomic and environmental factors of a population are changing over time, there are few studies focusing on the effects of sociodemographic factors on the prevalence of febrile seizures (FS). This study was designed to find out the prevalence of FS and to investigate the effect of socio-cultural and economic factors on this prevalence among the Turkish school children. METHODS: A school-based, cross-sectional study was conducted in first and second-class children. Data were collected through a questionnaire from the parents who agreed to be involved in the study. The survey had questions about some socioeconomic and demographic features of the children and febrile seizure episodes. RESULTS: 3806 children and parent pairs accepted to participate in the survey. Febrile seizure prevalence was 4.8%. It was found that the prevalence of FS was significantly associated with the chronic illnesses of a child that requires continuous medication, developmental delay of a child, NICU history, gestational hypertension history of a mother, and lower educational level of a mother. Recurrence of FS was observed in 32.9% of children. Children whose first FS was seen below the 39 °C had 1.9 times more recurrence risk. CONCLUSION: FS prevalence rate has declined from 9.7% to 4.3% in our study population within ten years. It was thought that advancing healthcare systems in our country might be decreased the prevalence. Our study enabled us to find out sociodemographic risk factors of FS, but further studies are needed in order to confirm the effect of sociodemographic factors on FS prevalence.

The role of melatonin and cortisol circadian rhythms in the pathogenesis of infantile colic.

BACKGROUND: Despite the high prevalence of infantile colic, the pathogenesis remains incompletely understood. Cortisol and melatonin hormones affect gastrointestinal system development in several ways, and interestingly, both cortisol and melatonin's circadian rhythms begin around the 3rd month in which infantile colic symptoms start to decrease. We hypothesized that infantile colic might associate with desynchronization of normal circadian rhythms of these hormones. In this study, we aimed to investigate the role of melatonin and cortisol in the pathogenesis of infantile colic. METHODS: Patients who were diagnosed as infantile colic according to Wessel's "rule of three" were enrolled in the colic group. We measured the saliva melatonin and cortisol levels of colic group and control group infants. In both groups, the saliva samples were taken in mornings and at evenings, at the time of diagnosis and 6th month. RESULTS: Fifty-five infants finished the study. Melatonin circadian rhythm developed earlier in the control group than the infantile colic group in our study. We found no significant difference between the daily mean cortisol levels. However, infants with colic had flatter daily cortisol slope than controls which pointed out the probability that they had a less clearly defined cortisol rhythm than infants without colic. CONCLUSIONS: We found an association between melatonin levels and infantile colic. However, more research is needed to fully understand the role of hypothalamic-pituitary-adrenal axis and hormone's role on infantile colic physiopathology.

Late onset of primary pulmonary primitive neuroectodermal tumor: a case report.

Lungs are one of most metastatic areas for primitive neuroectodermal tumor (PNET), however primary pulmonary PNET is extremely rare. Here we present a case of a 58-year-old male patient with a tumor in the right lung that originated from the lung but not from chest wall. Patient was diagnosed with PNET following histological and immunohistochemical examination of CT-guided percutaneous tru-cut needle biopsy and no distant metastasis were detected in PET-CT scan. As advised recently in published literature, surgical resection following neoadjuvant chemotherapy protocol is preferred in the treatment of our patient as it has better success of complete resection leading to higher 5-year survival rates. Although primary pulmonary PNET is uncommon, it should be taken into account and complete surgical resection should be aimed as treatment to achieve higher survival rates.