Case Report: Atypical motor development in a patient with the mosaic form of Down syndrome and spinal muscular atrophy type 2- long-term observation.

A boy is presented in whom Down Syndrome mosaicism and spinal muscular atrophy by overlapping clinical symptoms delayed the diagnosis and caused complicated motor development. The boy from the first pregnancy was delivered vaginally, week 37, Apgar 10, birth weight 3,650 g. The mother, aged 30, had no family history of Down Syndrome or neuromuscular diseases.

Qualitative assessment in the third month of life allows for a better prognosis of the achievement of motor milestones versus assessment of pathological reflexes- prospective studies on Polish children.

Introduction: The characteristic feature of primitive reflexes is that they occur early in development and must expire at a well-defined age. The study was conducted prospectively on a group of 107 children (74 boys). The study population included 83 infants born on time (weight 3,465 ± 395 g) and 24 born prematurely (weight 2,225 ± 793 g).

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.

Examination of Upper Limb Function and the Relationship with Gross Motor Functional and Structural Parameters in Patients with Spinal Muscular Atrophy.

Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by the deletion or/and mutation in the survival motor neuron 1 (SMN1) gene on chromosome 5. Until now, only a few articles investigating the relationship between upper limb function and the gross motor function in untreated SMA patients have been published. However, there is still a lack of publications including the relationship between structural changes such as cervical rotation, trunk rotation and side trunk shortening, and upper limb function.

SERPINA3: Stimulator or Inhibitor of Pathological Changes.

SERPINA3, also called α-1-antichymotrypsin (AACT, ACT), is one of the inhibitors of serine proteases, one of which is cathepsin G. As an acute-phase protein secreted into the plasma by liver cells, it plays an important role in the anti-inflammatory response and antiviral response. Elevated levels of SERPINA3 have been observed in heart failure and neurological diseases such as Alzheimer's disease or Creutzfeldt-Jakob disease.

Prospective Analysis of Functional and Structural Changes in Patients with Spinal Muscular Atrophy-A Pilot Study.

Spinal muscular atrophy (SMA) is a rare, autosomal recessive neuromuscular disease. Recent years have seen a significant development of therapeutic options for SMA patients. With the development of treatment methods, it has become necessary to adapt a physiotherapeutic approach to the evolving clinical picture of SMA patients.

Dynamics of changes in motor development depending on the quality in the 3rd month of life.

The aim of the study was to show that the quantitative and qualitative motor development from the 3rd month of life is key to achieving milestones and that it may be an early warning signal in children at risk of cerebral palsy (CP). The study population included 93 children (69 born at term). Children were born at week 38 ± 4, the mean body weight was 3,102 ± 814 g.

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.

The effect of supplementation on leptin and VEGF-A serum levels, endothelial dysfunction and angiogenesis in obese women - a randomised trial.

Obesity is associated with increased serum leptin level, endothelial dysfunction and angiogenesis. In vitro studies have shown that vascular endothelial growth factor (VEGF) synthesis is increased by leptin. Animal studies revealed the effectiveness of Plantago supplementation treatment of obesity.

Hepcidin and Erythroferrone Correlate with Hepatic Iron Transporters in Rats Supplemented with Multispecies Probiotics.

The influence of probiotic supplementation on iron metabolism remains poorly investigated. However, a range of studies, especially on 299v (Lp229v), have indicated a possible positive impact of probiotics on iron absorption. The aim of the study was to determine the effect of multistrain probiotic supply on iron balance.

The effect of multistrain probiotic supplementation in two doses on iron metabolism in obese postmenopausal women: a randomized trial.

Obesity leads to detrimental abnormalities of iron (Fe) metabolism. So far, studies have shown that single-strain probiotic supplementation ameliorates the gut microbiota quality disrupted in the obese and improves Fe homeostasis. The effect of multistrain probiotic supplementation and its dose-dependence in obese postmenopausal women remain unknown.

The Acute Phase Proteins Reaction in Children Suffering from Pseudocroup.

The aim of the study was to evaluate the inflammatory reaction in children with pseudocroup and compare it with other laryngological diseases according to the available literature data. The study group included 51 children hospitalized because of pseudocroup. The measurements of the acute phase proteins (APP), such as C-reactive protein (CRP), alpha-1-antitrypsin (AT), alpha-1-antichymotrypsin (ACT), alpha-1-acid glycoprotein (AGP), ceruloplasmin (Cp), transferrin (Tf), alpha-2-macroglobulin (A2M), and haptoglobin (Hp) were obtained at 3 time points.

Multispecies Probiotic Supplementation Favorably Affects Vascular Function and Reduces Arterial Stiffness in Obese Postmenopausal Women-A 12-Week Placebo-Controlled and Randomized Clinical Study.

Obesity in the postmenopausal period is associated with an increased risk of cardiovascular diseases in women. One of the key drivers of cardiovascular risk is endothelial dysfunction; thus, this is also a crucial point for studies on new therapeutic methods of cardioprotective properties. The aim of the current study was to evaluate the effect of two doses of multispecies probiotic Ecologic Barrier supplement on functional (primary endpoint) and biochemical parameters (secondary endpoint) of endothelial dysfunction in obese postmenopausal women in a 12-week randomized, placebo-controlled clinical trial.

Dose-Dependent Effects of Multispecies Probiotic Supplementation on the Lipopolysaccharide (LPS) Level and Cardiometabolic Profile in Obese Postmenopausal Women: A 12-Week Randomized Clinical Trial.

During the postmenopausal period, the risk of cardiovascular diseases is increased in many obese women and is associated with a worse cardiometabolic profile and a sub-chronic low-grade systemic inflammation caused by a gut barrier permeability dysfunction. Here, we tested whether administration of two different dosages of the multispecies probiotic Ecologic Barrier influenced the cardiometabolic biochemical parameters and lipopolysaccharide levels, the latter used as a marker of increased gut permeability in obese postmenopausal women. A total of 81 obese Caucasian postmenopausal women participated in the trial.

An attempt to explain the Vojta therapy mechanism of action using the surface polyelectromyography in healthy subjects: A pilot study.

Background: Rehabilitation according to Vojta is a neurophysiological method used to obtain reflex responses in muscles following stimulation of particular activation zones.

Objectives: This study aims to objectively evaluate the muscular responses following stimulation according to Vojta's method. The possible routes of spinal transmission responsible for the phenomenon of muscle activation in upper and lower extremities are considered.

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.

Running versus cardiorespiratory endurance: not the same issue?

Background: Obesity is considered as one of the main chronic, non-communicable diseases, which has become a global epidemic according to the World Health Organization. The present study was a detailed analysis of the endurance and physical fitness of boys at the age of 10-11-12 years depending on their body weight.

Methods: The study group included the total of 71 boys aged 10-12 years, who were divided according to the BMI value.

Relations between the results of complex clinical and neurophysiological examinations in patients with temporomandibular disorders symptoms.

Objective: Reinvestigation of clinical importance of surface electromyography recordings (sEMG) from the masticatory, neck and shoulder girdle muscles in patients with various clinically detected temporomandibular disorders (TMDs).

Methods: Fifty women with myalgia diagnosis of Axis I DC/TMD and the same number of healthy female volunteers were studied clinically and neurophysiologically by means of sEMG.

Results: Unilateral more than bilateral complex symptoms of TMDs were related to the non-neurogenic masticatory rather than neck and shoulder girdle muscles dysfunctions at rest.

An Evaluation of the Efficacy of Selective Alpha-Blockers in the Treatment of Children with Neurogenic Bladder Dysfunction--Preliminary Findings.

The aim of this study was to assess the usefulness of selective α1-blockers in children with neurogenic urinary tract dysfunctions and increased leak point pressure (LPP). 14 children from age 6 to 16 years with neurogenic urinary tract dysfunctions (neurogenic bladder) and LPP > 40 cm H₂O were enrolled in the study. All patients received a selective α1-blocker (doxazosin) for 6-8 weeks with an initial dosage of 0.

Qualitative elements of early motor development that influence reaching of the erect posture. A prospective cohort study.

The proposed assessment sheet aims to show in detail, which qualitative elements of motor performance are performed correctly in the 2nd month of life by children who in the 9th month reached the erect posture. Similar analysis was performed for the qualitative assessment in the 6th month. The prospective investigation of motor development involved a group of 109 children (40 girls and 69 boys).