Search Results (16)

Background and Objectives: Cognitive impairment is defined as a reduced ability to perform one or more cognitive functions, potentially leading to dementia if the condition worsens. With dementia being a rapidly growing public health issue affecting approximately 50 million people worldwide, understanding modifiable risk factors such as thyroid disease is crucial for prevention and early diagnosis. Thyroid hormones play a vital role in brain development and functioning, impacting processes such as neuron growth, myelination, and neurotransmitter synthesis. Recent decades have seen thyroid disorders emerging as potential independent risk factors for reversible cognitive impairment. Materials and Methods: The review adheres to PRISMA guidelines, utilizing a structured PICO question to explore whether individuals with thyroid diseases have a higher risk of developing dementia and cognitive impairments compared to those without. The literature search was conducted in PubMed, Cochrane, and ScienceDirect databases, including studies published from 1 January 2019 to 31 December 2023. The literature review discusses nine selected articles. Results: The findings highlight a complex association between thyroid dysfunction and cognitive decline, with some studies indicating significant links, particularly with hypothyroidism, and others suggesting the relationship may depend on the specific type of thyroid dysfunction or cognitive domain affected. Six out of nine articles found a link between thyroid disease and cognitive impairment, while three articles refuted this link. Conclusions: The review reveals a complex and ambiguous relationship between thyroid dysfunction and cognitive impairment. Further research is needed to elucidate the mechanisms underlying these associations and to determine whether thyroid dysfunction may be a modifiable risk factor for dementia. Full article

Preterm infants have increased body adiposity at term-equivalent age and risk of adverse metabolic outcomes. The aim of the study was to define how nutrient intake may impact body composition (BC) of very low-birth weight infants fed with early progressive enteral feeding and standard fortification. Eighty-six infants with <1500 g birth weight were included in the BC study and stratified into extremely preterm (EP) and very preterm (VP) groups. Nutrient intake was calculated during the first 28 days and BC assessed by dual X-ray absorptiometry at discharge and by skinfold thickness at 12 months of corrected age (CA). Total nutrient intake did not differ between the groups. EP infants had a higher fat mass percentage at discharge than VP infants (24.8% vs. 19.4%, p < 0.001); lean mass did not differ. None of the nutrients had any impact on BC of EP infants. Protein intake did not result in a higher lean mass in either group; fat intake was a significant predictor of increased fat mass percentage in VP infants at discharge (p = 0.007) and body adiposity at 12 months of CA (p = 0.021). Nutritional needs may depend on gestational age and routine fortification should be used with caution in more mature infants. Full article

Optimal nutrient intake ensuring better neurodevelopment for very low birth weight (VLBW) infants remains unknown. The aim of this study was to assess the relationship between early (first 28 days) nutritional intake, first year growth, and neurodevelopment. In total, 120 VLBW infants were included into the study. A group of 95 infants completed follow-up to 12 months of corrected gestational age (CGA). Nutrient intake was assessed, and weight, length, and head circumference (HC) were measured weekly until discharge and at 3, 6, 9, and 12 months of CGA. Neurodevelopment was assessed at 12 months of CGA. Two groups—extremely preterm (EP) and very/moderately preterm (VP)—were compared. Growth before discharge was slower in the EP group than the VP group. At 12 months, there was no difference in anthropometric characteristics or neurodevelopmental scores between the groups. Higher carbohydrate intake during the first 28 days was the single significant predictor for better cognitive scores only in the EP group (β_s = 0.60, p = 0.017). Other nutrients and growth before discharge were not significant for cognitive and motor scores in either group in multivariable models, whereas post-discharge HC growth was associated with both cognitive and motor scores in the VP group. Monitoring intake of all nutrients and both pre-discharge and post-discharge growth is essential for gaining knowledge about individualized nutrition for optimal neurodevelopment. Full article

Early nutrition is one of the most modifiable factors influencing postnatal growth. Optimal nutrient intakes for very preterm infants remain unknown, and poor postnatal growth is common in this population. The aim of this study was to assess nutrient intake during the first 4 weeks of life with early progressive enteral feeding and its impact on the in-hospital growth of very low-birth-weight (VLBW) infants. In total, 120 infants with birth weights below 1500 g and gestational ages below 35 weeks were included in the study. Nutrient intakes were assessed daily for the first 28 days. Growth was measured weekly until discharge. Median time of parenteral nutrition support was 6 days. Target enteral nutrient and energy intake were reached at day 10 of life, and remained stable until day 28, with slowly declining protein intake. Median z-scores at discharge were −0.73, −0.49, and −0.31 for weight, length, and head circumference, respectively. Extrauterine growth restriction was observed in 30.3% of the whole cohort. Protein, carbohydrates, and energy intakes correlated positively with weight gain and head circumference growth. Early progressive enteral feeding with human milk is well tolerated in VLBW infants. Target enteral nutrient intake may be reached early and improve in-hospital growth. Full article

Background and Objectives: The main reason for Newborn screening (NBS) for congenital adrenal hyperplasia (CAH) is to prevent adrenal insufficiency that can lead to life-threatening conditions. On the other hand, screening programs are not always sensitive and effective enough to detect the disease. We aimed to evaluate impact of the national NBS on the clinical presentation of patients with CAH in Lithuania. Materials and Methods: A retrospective study was performed on data of 88 patients with CAH from 1989 to 2020. Patients with confirmed CAH were divided into two groups: (1) 75 patients diagnosed before NBS: 52 cases with salt-wasting (SW), 21 with simple virilising (SV) and two with non-classical (NC) form; (2) 13 patients diagnosed with NBS: 12 cases with SW and 1 case with SV form. For the evaluation of NBS effectiveness, data of only male infants with salt-wasting CAH were analysed (n = 36, 25 unscreened and nine screened). Data on gestational age, birth weight, weight, symptoms, and laboratory tests (serum potassium and sodium levels) on the day of diagnosis, were analysed. Results: A total of 158,486 neonates were screened for CAH from 2015 to 2020 in Lithuania and CAH was confirmed in 13 patients (12 SW, one–SV form), no false negative cases were found. The sensitivity and specificity of NBS program for classical CAH forms were 100%; however, positive predictive value was only 4%. There were no significant differences between unscreened and screened male infant groups in terms of age at diagnosis, serum potassium, and serum sodium levels. Significant differences were found in weight at diagnosis between the groups (−1.67 ± 1.12 SDS versus 0.046 ± 1.01 SDS of unscreened and screened patients respectively, p = 0.001). Conclusions: The sensitivity and specificity of NBS for CAH program were 100%, but positive predictive value—only 4%. Weight loss was significantly lower and the weight SDS at diagnosis was significantly higher in the group of screened patients. Full article

We analyzed miR-146b, miR-21, miR-221, miR-21, and miR-181b in formalin fixed paraffin-embedded papillary thyroid carcinoma (PTC) tissue samples of 312 individuals and evaluated their expression relationship with clinicopathological parameters. A higher expression of miR-21 was related to unifocal lesions (p < 0.011) and autoimmune thyroiditis (0.007). miR-221, miR-222 expression was higher in the PTC tissue samples with extrathyroidal extension (p = 0.049, 0.003, respectively). In a group of PTC patients with pT1a and pT1b sized tumors, the expression of miR-146b, miR-21, miR-221, and miR-222 in PTC tissue samples was lower than in patients with pT2, pT3, and pT4 (p = 0.032; 0.0044; 0.003; 0.001; 0.001, respectively). Patients with lymph node metastases had higher expression of miR-21, -221, -222, and -181b (p < 0.05). A high expression of miR-146b, miR-21, miR-221 panel was associated with decreased overall survival (OS) (Log rank p = 0.019). Univariate analysis revealed that presence of metastatic lymph nodes and high expression of miR-146b, miR-21, and miR-221 panels were associated with increased hazard of shorter OS. After multivariate analysis, only sex (male) and age (≥55 years) emerged as independent prognostic factors associated with shorter OS (HR 0.28 (95% CI 0.09–0.86) and HR 0.05 (95% CI 0.01–0.22), respectively). In conclusion, 5 analyzed miRs expression have significant relations to clinicopathologic parameters so further investigations of these molecules are expedient while searching for prognostic PTC biomarkers. Full article

We analyzed five miRNA molecules (miR-221; miR-222; miR-146b; miR-21; miR-181b) in the plasma of patients with papillary thyroid cancer (PTC), nodular goiter (NG) and healthy controls (HC) and evaluated their diagnostic value for differentiation of PTC from NG and HC. Preoperative PTC plasma miRNA expression (n = 49) was compared with plasma miRNA in the HC group (n = 57) and patients with NG (n = 23). It was demonstrated that miR-221; miR-222; miR-146b; miR-21 and miR-181b were overexpressed in preoperative PTC plasma samples compared to HC (p < 0.0001; p < 0.0001; p < 0.0001; p < 0.0001; p < 0.002; respectively). The upregulation in tumor tissue of these miRNAs was consistent with The Cancer Genome Atlas Thyroid Carcinoma dataset. A significant decrease in miR-21; miR-221; miR-146b and miR-181b expression was observed in the plasma of PTC patients after total thyroidectomy (p = 0.004; p = 0.001; p = 0.03; p = 0.036; respectively). The levels of miR-222 were significantly higher in the preoperative PTC compared to the NG group (p = 0.004). ROC curve (receiver operating characteristic curve) analysis revealed miR-222 as a potential marker in distinguishing PTC from NG (AUC 0.711; p = 0.004). In conclusion; circulating miR-222 profiles might be useful in discriminating PTC from NG. Full article

Background and objectives: Intrauterine growth restriction is thought to be implicated in long-term programming of hypothalamic–pituitary–adrenal axis activity. We investigated adrenal function in adolescents born small for gestational age (SGA) in relation to their postnatal growth and cardiovascular parameters. Materials and Methods: Anthropometric parameters, blood pressure, heart rate, dehydroepiandrosterone sulfate (DHEAS), and cortisol levels were assessed in 102 adolescents aged 11–14 years followed from birth (47 SGA and 55 born appropriate for gestational age (AGA)). Results: Mean DHEAS levels were higher in SGA adolescents with catch-up growth (SGA_CU+), compared with AGA. Second-year height velocity and body mass index (BMI) gain during preschool years were positively related to DHEAS levels. Morning cortisol levels and systolic and diastolic blood pressure were higher in SGA adolescents without catch-up growth (SGA_CU−) compared with AGA. Second-year BMI gain was inversely, and 2–12 years increase in subscapular skinfold thickness was directly associated with cortisol levels. Size at birth and postnatal growth explained 47.8% and 38.2% of variation in DHEAS and cortisol levels, respectively. Conclusion: Adrenal function in adolescence is affected by prenatal and postnatal growth: small size at birth with postnatal catch-up growth is related to higher DHEAS secretion, whereas increased cortisol levels and blood pressure are higher in short SGA adolescents. Full article

Background and objective: Survival after childhood cancer has dramatically improved during last few decades, implying the need for evaluation and correction of late consequences of the disease and its treatment. The aim of this study was to characterize endocrine and metabolic late effects after treatment of brain tumors in children.
Materials and methods: Late complications were analyzed in 51 children treated for brain tumors at the Hospital of Lithuanian University of Health Sciences during 2000–2011. Data on late endocrine and metabolic effects were collected from medical records. Most frequently patients suffered from low-grade glioma (n = 17, 33.3%) and medulloblastoma (n = 13, 25.5%). The majority (n = 42, 82.4%) of the patients underwent surgery; 29 (56.9%) received radiotherapy (RT); 26 (51.0%), chemotherapy; and 17 (33.4%), combined treatment.
Results: The median follow-up was 21 months (range 0.25–10.6 years). Most common endocrine consequence was low serum insulin-like growth factor (IGF-I) levels (58.3%), found on average in 30.7 months after cancer treatment. Short stature was observed in 34.6% (mean time to development, 47.7 months), and hypothyroidism in 40.7% of patients (mean time to development, 63.6 months). Low bone mineral density was found in 50.0% of the cases after 44.5 months and overweight in 30.0% after 49.9 months of follow-up.
Conclusions: Survivors of brain tumors suffer from numerous endocrine and metabolic consequences, majority of them developing within the first 5 years after brain tumor therapy. An active follow-up aiming for early diagnosis and therapy is essential for improvement of quality of life in these patients. Full article

Hyperinsulinism is the most common cause of hypoglycemia in infants. In many cases conservative treatment is not effective and surgical intervention is required. Differentiation between diffuse and focal forms and localization of focal lesions are the most important issues in preoperative management.
We present a case of persistent infancy hyperinsulinism. Clinical presentation, conservative treatment modalities, diagnostic possibilities of focal and diffuse forms, and surgical treatment, which led to total recovery, are discussed. Full article

Multiple endocrine neoplasia type 1 (MEN 1) is a rare syndrome inherited in an autosomal dominant pattern, characterized by combinations of tumors of the parathyroid glands, pituitary gland, and pancreatic islet cells and more rare tumors of endocrine organs and nonendocrine tissues. Germline mutations in the MEN1 gene are responsible for the MEN 1 syndrome, leading to an inactive form of menin protein. Benign lesions of the parathyroid glands are characteristic in patients with the MEN 1 syndrome; however, patients can develop parathyroid carcinomas very rarely. This report presents a clinical case of the MEN 1 syndrome: a 39-year-old woman underwent surgery for carcinoma of two parathyroid glands as well as was treated for pituitary prolactinoma, which caused infertility, and malignant insulinoma; the patient had multiple subcutaneous lipomas as well. Genetic analysis revealed a novel germline mutation in the MEN1 gene – a nucleotide insertion at codon 43 in exon 2 (c.129insA), which caused the occurrence of the MEN1 syndrome. The clinical case of the MEN 1 syndrome presented here is relevant in gathering the data on etiopathogenesis of not only MEN 1 syndrome, but an extremely rare pathology – parathyroid carcinoma – as well. Full article

The most common genetically determined cause of multiple pituitary hormone deficiency is PROP-1 gene mutation. PROP-1 is a transcription factor involved in the development of pituitary gland and affects hormonal synthesis of anterior pituitary.
The aim of our study was to evaluate radiological aspects of the pituitary region in patients with PROP-1 gene mutation. Pituitary imaging studies were performed in 12 patients with a confirmed PROP-1 gene mutation. Pituitary hyperplasia was found in 5 (42%) and pituitary hypoplasia in 4 (33%) patients. Changes in pituitary size were not associated with the type of PROP-1 gene mutation. Full article

Objective. We present our experience in diagnosing, gender assignment, and surgical management of sexual ambiguity in 46,XY mixed gonadal dysgenesis.
Material and methods. A retrospective study of five cases treated from 2003 to 2006 was performed. Clinical picture, operative findings, testosterone levels, and immunohistochemistry of gonads for the expression of FOXL2, SOX9, AMH, AMHr, C-kit, and PLAP were analyzed.
Results. All patients had ambiguous genitalia, urogenital sinus, uterus, testicle on one side, and a streak gonad on the other. Four patients were reared as male and one as female. Stimulation by human chorionic gonadotropin showed good penile size and testosterone response. All patients underwent laparoscopic gonadal biopsy and/or gonadectomy. Histological studies showed the presence of sparse primordial follicles surrounded by embryonic sex cords in the streak portion of gonads. Germ cells were C-kit positive in all and PLAP positive in four patients. FOXL2 expression was detected in four streak gonads and in none of testes. AMH expression was found only in testes. SOX9 expression was found in both investigated testes and in three out of four streak gonads investigated.
Conclusions. 46,XY mixed gonadal dysgenesis should be differentiated from ovotesticular and other types of 46,XY disorders of sexual differentiation by the typical gonadal histology and internal genital structure. High testosterone level after stimulation and good response to testosterone treatment in 46,XY mixed gonadal dysgenesis could orient toward male sex assignment. There are different patterns of gene expression in testicular and streak gonads with a switch to FOXL2 positivity in streak gonads. Early gonadal and genital surgery is recommended. Full article

The aim of the study was to evaluate growth pattern of small- and appropriate-for-gestationalage children and to identify prenatal and postnatal risk factors for short stature and development of components of metabolic syndrome. A total of 109 small- and 239 appropriate-for-gestational-age infants were enrolled in the study. Within 24 hours after birth and at 2, 5, 9, 12, 18, 24 months, and 6 years of age, anthropometric data were recorded for study children. Cord blood samples from study infants were collected, and insulin-like growth factor-1 (IGF), IGF-binding protein-3, and leptin levels were measured. Birth weight and height (P<0.001) and insulin-like growth factor-1, IGF-binding protein-3, and leptin levels (P<0.05) were lower in children born small for gestational age vs. children born appropriate for gestational age. At 2, 5, 12, 18, and 24 months and 6 years of age, children born small for gestational age remained shorter and weighed less (P<0.001). Waist-to-hip ratio, heart rate at 6 years of age and gain in body mass index from birth up to 6 years of age was higher in children born small for gestational age. Height gain during the first year of life was mainly influenced by birth length and target height. Maternal weight before pregnancy and cord leptin levels were the most significant factors influencing postnatal weight gain during the first years of life.
Conclusions. During the first 6 years of life, children born small for gestational age remained shorter and lighter. A greater catch-up in body mass index and tendency towards central pattern of fat distribution during the first years of life might be predisposing factors for the development of long-term metabolic complications in these individuals. Full article