Thyroid Function and Morphology in Gaucher Disease: Exploring the Endocrine Implications.

Gaucher disease (GD), the most common ultra-rare metabolic disorder, results from lipid accumulation. Systemic inflammation, cellular stress, and metabolic dysfunction may influence endocrine function, including the thyroid. This study evaluated thyroid function and morphology in 60 GD patients, alongside carbohydrate and lipid metabolism.

Magnetic Resonance Imaging does not distinguish Kallmann syndrome from normosmic isolated hypogonadotropic hypogonadism.

Introduction And Objectives: Isolated hypogonadotropic hypogonadism (IHH) may be associated with pituitary gland and olfactory system disorders. We aimed to correlate findings of Magnetic Resonance Imaging (MRI) of the pituitary gland and olfactory system in IHH patients with the patients' olfactory phenotype.

Patients And Methods: The present research was a single-center retrospective case-control study.

Caregiver burden after stroke: a 10-year follow-up study of Polish caregivers for stroke patients.

Background: A long-term assessment of stroke outcomes from the perspectives of patients and their caregivers is important for optimising long-term post-stroke care. The extended effects of stroke caregiving, particularly caregiver burden beyond 5 years since stroke, remain to be determined. Hence, this study aimed to determine caregiver burden at 10 years after stroke, compare the burden severity at 10 years with its levels at 5 years and 6 months after stroke, and identify predictors of the burden severity at 10 years post-stroke.

Impact of selected risk factors on motor performance in the third month of life and motor development in the ninth month.

Background: Proper motor development can be influenced by a range of risk factors. The resulting motor performance can be assessed through quantitative and qualitative analysis of posture and movement patterns.

Methods: This study was designed as the cohort follow-up of the motor assessment and aimed to demonstrate, in a mathematical way, the impact of particular risk factors on elements of motor performance in the 3 month and the final motor performance in the 9 month of life.

Superficial high-dose-rate brachytherapy for primary tumors and relapses after surgery in patients with basal cell carcinoma of the head and neck region: results of a retrospective comparative cohort study.

Purpose: The recommended treatments for basal cell carcinoma (BCC) in the head and neck (H&N) region are Mohs surgery, standard surgical excision (SSE), and radiotherapy. According to the literature, local recurrence after surgical treatment in this area is associated with a worse prognosis in case of re-treatment. To our knowledge, there are no reports on high-dose-rate brachytherapy (HDR-BT) for BCC of the H&N region, both in primary lesions and relapses after SSE.

The clinical significance of electronic fetal heart rate monitoring in twins.

Objectives: Fully effective intrapartum cardiotocographic (CTG) fetal heart monitoring is still missing. Visual analysis is far from credibility. Additional, computerized analysis techniques were proposed however they did not substantially decrease possible risks of fetal asphyxia.

Are patients with polycystic ovary syndrome more prone to irritable bowel syndrome?

Background: Polycystic ovary syndrome (PCOS) encompasses endocrine, reproductive and metabolic disturbances. Abdominal pain and bowel movement disturbances are common complaints of PCOS patients. It remains uncertain whether the characteristic features of PCOS are associated with an increased incidence of irritable bowel syndrome (IBS).

Lipid ratios and obesity indices are effective predictors of metabolic syndrome in women with polycystic ovary syndrome.

Background: Insulin resistance (IR) is common in women with polycystic ovary syndrome (PCOS). Metabolic syndrome (MS) involves IR, arterial hypertension, dyslipidemia, and visceral fat accumulation. Therefore, fatness indices and blood lipid ratios can be considered as screening markers for MS.

Crawl Position Depends on Specific Earlier Motor Skills.

Early assessment of motor performance should allow not only the detection of disturbances but also create a starting point for the therapy. Unfortunately, a commonly recognised method that should combine these two aspects is still missing. The aim of the study is to analyse the relationship between the qualitative assessment of motor development at the age of 3 months and the acquisition of the crawl position in the 7th month of life.

How motor elements at 3 months influence motor performance at the age of 6 months.

One of the most important achievements of infancy is mobility, through which the child gradually becomes independent and can discover new places and objects. One form of mobility that occurs in a child's development is rolling over from supine-to-prone.The assumption of the work was to check whether all particular motor elements from the 3rd month had a comparable effect on development in the 6th month of life.

Indirect Predictors of Visceral Adipose Tissue in Women with Polycystic Ovary Syndrome: A Comparison of Methods.

Visceral adipose tissue (VAT) accumulation, is a part of a polycystic ovary syndrome (PCOS) phenotype. Dual-energy x-ray absorptiometry (DXA) provides a gold standard measurement of VAT. This study aimed to compare ten different indirect methods of VAT estimation in PCOS women.

Reduced Quality of Life and Sexual Satisfaction in Isolated Hypogonadotropic Hypogonadism.

(1) Background: Isolated hypogonadotropic hypogonadism (IHH) is a genetic condition characterized by impaired puberty and fertility. IHH can significantly impact patient health-related quality of life (HRQoL), sexual satisfaction (SS) and mood. (2) Methods: Participants included 132 IHH subjects (89 men and 43 women) and 132 sex- and age-matched controls.

Fetal growth trajectory in type 1 pregestational diabetes (PGDM) - an ultrasound study.

Objectives: Growth disorders are frequent in diabetic pregnancies. However, they are difficult to predict and capture early during pregnancy. These newborns are at risk of obesity, diabetes, and cardiovascular disease.

Effect of Central Obesity and Hyperandrogenism on Selected Inflammatory Markers in Patients with PCOS: A WHtR-Matched Case-Control Study.

White blood cell counts (WBC), lymphocyte-to-monocyte ratio (LMR), and monocyte-to-high-density lipoprotein cholesterol ratio (MHR) are used as chronic inflammation markers. Polycystic ovary syndrome (PCOS) is a constellation of systemic inflammation linked to central obesity (CO), hyperandrogenism, insulin resistance, and metabolic syndrome. The waist-to-height ratio (WHtR) constitutes a highest-concordance anthropometric CO measure.

Cerebral oxygenation and bioelectrical activity in preterm infants during surfactant replacement therapy with porcine and bovine preparations.

Introduction: Surfactant replacement therapy (SRT) might cause acute changes in cerebral oxygenation and alteration of brain bioelectrical activity. Varying physiologic responses and clinical outcomes were observed when different surfactant preparations were instilled to treat neonatal respiratory distress syndrome (RDS).

Material And Methods: Neonates born at 26-30 weeks of gestation with RDS requiring intubation and mechanical ventilation were randomized to SRT either with poractant alfa (A) or beractant (B).

Overweight in classical phenylketonuria children: A retrospective cohort study.

Purpose: This cohort study aimed to determine the frequency of overweight and obesity in classical phenylketonuria children and to identify the possible influence of metabolic control on the BMI of the studied patients.

Patients And Methods: The study group included 63 classical phenylketonuria patients (40 girls and 23 boys; aged 5-16 years). Their z-score BMI, metabolic control, educational level of parents and socioeconomic status were determined.

Fecal Fat Concentration and Excretion in the First 2 Years of Life: a Cross-Sectional Study.

Objectives: Data on pancreatic exocrine secretion in the youngest children are scarce. The aim of the study was to determine the range of normal values for fecal fat concentration (FFC) and fecal fat excretion (FFE) in infants and toddlers up to 2 years of age.

Methods: A total of 160 subjects aged 1 to 24 months (8 groups of 20: aged 1-3, 4-6 months, etc) were included in the study.

Type of cardioplegic solution as a factor influencing the clinical outcome of open-heart congenital procedures.

Introduction: Cardioplegia is one of the most important modalities of myocardial protection during heart surgery.

Aim: To assess the impact of blood cardioplegia on postoperative variables, in comparison with two types of crystalloid cardioplegic solutions during pediatric heart surgery.

Material And Methods: One thousand one hundred and twenty-nine patients underwent surgical correction of congenital heart disease with cardioplegia administration between 2006 and 2012.

Fecal elastase-1 in healthy children up to 2 years of age: a cross-sectional study.

Background: Fecal elastase-1 (E-1) levels in infants and young children may be expected to differ from those in adults and older children because of the immaturity of the gastrointestinal tract and the specificity of their diet. Despite the availability of data describing E-1 levels in the stools of preterm infants, older children, adults and subjects with malabsorption, there is still a lack of data regarding E-1 in healthy infants and toddlers. The aim of this cross-sectional study was to evaluate fecal E-1 concentrations in infants and children from 1 up to 24 months of age.

Position of pelvis in the 3rd month of life predicts further motor development.

The aim of the study is to select elements of motor skills assessed at 3 months that provide the best predictive properties for motor development at 9 months. In all children a physiotherapeutic assessment of the quantitative and qualitative development at the age of 3 months was performed in the prone and supine positions, which was presented in previous papers as the quantitative and qualitative assessment sheet of motor development. The neurological examination at the age of 9 months was based on the Denver Development Screening Test II and the evaluation of reflexes, muscle tone (hypotony and hypertony), and symmetry.

Is Venlafaxine More Effective than Escitalopram and Nortriptyline in the Management of Painful Symptoms in Patients with Major Depression?

Background: Conflicting data regarding the efficacy of antidepressants of different mechanism of action on unexplained painful physical symptoms (UPPS) in depression have been published so far.

Objective: The aim of this study was to compare the impact of escitalopram (ESC), nortriptyline (NOR), and venlafaxine (VEN) on UPPS in patients with major depression.

Materials And Methods: Sixty patients, participants in the GENDEP study, with a diagnosis of depression according to the ICD-10 criteria were randomly assigned to treatment with ESC (10-30 mg, mean dose 15.

Vitamin K status in cystic fibrosis patients with liver cirrhosis.

The available data on the influence of liver cirrhosis on vitamin K status in CF patients is scarce. Therefore, the aims of the present study were to assess the prevalence of vitamin K deficiency in cirrhotic CF subjects and to determine whether it correlates with liver cirrhosis. The study group comprised of 27 CF patients with and 63 without liver cirrhosis.

Determinants of Serum Glycerophospholipid Fatty Acids in Cystic Fibrosis.

The etiology of altered blood fatty acid (FA) composition in cystic fibrosis (CF) is understood only partially. We aimed to investigate the determinants of serum glycerophospholipids' FAs in CF with regard to the highest number of FAs and in the largest cohort to date. The study comprised 172 CF patients and 30 healthy subjects (HS).

Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.

Background: Lowe syndrome (LS) and Dent-2 disease (DD2) are disorders associated with mutations in the OCRL gene and characterized by progressive chronic kidney disease (CKD). Here, we aimed to investigate the long-term renal outcome and identify potential determinants of CKD and its progression in children with these tubulopathies.

Methods: Retrospective analyses were conducted of clinical and genetic data in a cohort of 106 boys (LS: 88 and DD2: 18).

Morphological assessment of thin basement membrane disease.

Thin basement membrane disease is more common than IgA nephropathy or Alport syndrome, which are also associated with the presence of erythrocyturia. Very few reports on the disorder are available in the Polish literature. The objective of this work was to analyze the results from 83 patients with thin basement membrane syndrome as well as to formulate a proposal of strict morphological assessment criteria for the disorder.