Transthyretin amyloid cardiomyopathy in patients with unexplained increased left ventricular wall thickness.

Amyloid cardiomyopathy (CA) was previously considered a rare disease; however, rapid advancements in imaging modalities have led to an increased frequency of its diagnosis. The aim of this prospective study was to assess the prevalence and clinical phenotype of transthyretin amyloidosis (ATTR) cardiomyopathy in patients exhibiting unexplained increased left ventricular (LV) wall thickness. From 2020 to 2022, we enrolled 100 consecutive adults with unexplained increased LV wall thickness in the study. The analysis included clinical data, electrocardiography, transthoracic echocardiography, single-photon emission computed tomography/computed tomography with 3,3-disphono-1,2-propanodicarboxylic acid, genetic testing. Overall, 18% of patients were diagnosed with CA, comprising 5% with light-chain amyloidosis, and 12% with ATTR. To evaluate associations with the ATTR diagnosis, a LOGIT model and multivariate analysis were applied. Notably, age, polyneuropathy, gastropathy, carpal tunnel syndrome, lumbar spine stenosis, low voltage, ventricular arrhythmia, LV mass, LV ejection fraction, global longitudinal strain (GLS), E/A, E/E', right ventricle (RV) thickness, right atrium area, RV VTI, TAPSE, apical sparing, ground glass appearance of myocardium, thickening of interatrial septum, thickening of valves, and the "5-5-5" sign were found to be significantly associated with ATTR (p < 0.05). The best predictive model for ATTR diagnoses exhibited an area under the curve of 0.99, including LV mass, GLS and RV thickness. This study, conducted at a cardiology referral center, revealed that a very considerable proportion of patients with unexplained increased LV wall thickness may suffer from underlying CA. Moreover, the presence of ATTR should be considered in patients with increased LV mass accompanied by reduced GLS and RV thickening.

Anti-Cancer and Anti-Inflammatory Properties of Black Garlic.

Black garlic (BG) is a fermented form of garlic (Allium sativum L.), produced at precisely defined temperatures, humidities, and time periods. Although garlic has been used for thousands of years, black garlic is a relatively new discovery. There are many bioactive compounds in black garlic that give it medicinal properties, including anti-inflammatory and anti-cancer properties. In our review article, we present scientific studies examining the anti-inflammatory and anti-cancer effects of black garlic. According to research, this effect is mainly due to the reduction in the production of pro-inflammatory cytokines, as well as the ability to scavenge free oxygen radicals and induce apoptosis. In addition, the phytochemicals contained in it have antiproliferative and antiangiogenic properties and inhibit the growth of cancer cells. Black garlic is a valuable source of biologically active substances that can support anti-inflammatory and anti-cancer therapy. Compared to Allium sativum, black garlic has fewer side effects and is easier to consume.

Health-Promoting Properties: Anti-Inflammatory and Anticancer Properties of Sambucus nigra L. Flowers and Fruits.

Sambucus nigra L. has been used for centuries in traditional medicine thanks to its valuable healing properties. The healing properties result from its high content of biologically active compounds, mainly antioxidants, which contribute to its anti-inflammatory and anticancer properties. In our review, we have presented scientific studies evaluating the anti-inflammatory and anticancer effects of extracts and their components from S. nigra L. flowers and fruits. The results of the research show that the effect of antioxidant phytochemicals contained in their composition reduces the level of free radicals and pro-inflammatory cytokines, prevents mutations that increase the risk of cancer development, and inhibits cell proliferation, induction of apoptosis, and changes in intracellular signaling, consequently inhibiting the growth of malignant tumors and the formation of metastases. Flowers and fruits of S. nigra L. are a valuable source of nutraceutical and pharmacological substances that can support prevention and anti-inflammatory and oncological therapy without negative side effects for the patient.

Comparison of Regadenoson and Dipyridamole Safety Profiles During Stress Myocardial Perfusion Imaging.

Objectives: The pharmacological stress test with vasodilator agents is an alternative cardiological diagnostic tool for patients with contraindications to the classical stress test provided by physical activity during single-photon emission computed tomography (SPECT) myocardial perfusion imaging (MPI). The study compared the frequency of the side effects of regadenoson and dipyridamole during a SPECT MPI. Methods: This retrospective study included data of 283 consecutive patients who underwent pharmacological stress tests in years 2015-2020. The study group consisted of 240 patients who had received dipyridamole and 43 patients who had received regadenoson. The collected data included the patients' characteristics, the occurrence of side effects (divided into mild: headache, vertigo, nausea, vomiting, dyspnea, chest discomfort, hot flushes, general weakness and severe: bradycardia, hypotension, loss of consciousness), and blood pressure values/measurements. Results: Overall, complications occurred relatively often (regadenoson: 23.2%, dipirydamol: 26.7%, p=0.639). Procedure discontinuation was necessary in 0.7% of examinations, whereas pharmacological support was necessary in 4.7%. There was no difference in the prevalence of mild (regadenoson: 16.2%, dipirydamol: 18.3%, p=0.747) and severe complications (regadenoson: 11.6%, dipyridamole: 15.0%, p=0.563). However, regadenoson has been found to cause a significantly smaller mean decrease of systolic blood pressure (SBP) (regadenoson: -2.6±10.0 mmHg, dipyridamole: -8.7±9.6 mmHg, p=0.002), diastolic blood pressure (DBP) (regadenoson: -0.9±5.4 mmHg, dipyridamole: -3.6±6.2 mmHg, p=0.032), as well as mean arterial pressure (MAP) (regadenoson: -1.5±5.6 mmHg, dipyridamole: -5.4±6.5 mmHg, p=0.001). Conclusion: Regadenoson and dipyridamole presented a similar safety profile during SPECT MPI. However, regadenoson has been found to cause significantly smaller decreases in SBP, DBP, and MAP.

Low Self-Esteem and Life Satisfaction as a Significant Risk Factor for Eating Disorders among Adolescents.

BACKGROUND: Eating disorders are a problem that is becoming more and more common among younger and younger age groups. Many studies examine the risk factors for EDs, however, the treatment of these diseases is very complicated and requires dietary, psychological and medical intervention. METHODS: 233 primary and secondary school students aged 12 to 19 were surveyed using the EAT-26 (Eating Attitudes Test-26) questionnaire, the self-esteem Scale SES and the Cantril scale for life satisfaction. RESULTS: Women, when compared to men, showed lower self-esteem, satisfaction with their appearance, body weight and their lives and at the same time a higher risk of eating disorders in all three areas. Low life satisfaction is often correlated with weight loss greater than 10 kg. Low self-esteem correlated positively with significant weight loss (>10 kg) and more frequent uncontrollable binge eating and exercising (more than 60 min a day) to influence appearance. People with low self-esteem were more likely to be treated for EDs. Subjects dissatisfied with their lives binged, feeling that they could not stop. CONCLUSION: The younger the person, the more likely they are to develop eating disorders. This is closely correlated with low self-esteem and negative life satisfaction. Men were more likely to be satisfied with their weight, appearance, and life, and were less likely to show ED symptoms.

Nutritional Issues Faced by Patients with Intestinal Stoma: A Narrative Review.

The incidences of colorectal cancer and inflammatory bowel diseases are increasing in the developed countries of Western Europe and North America, and consequently, the prevalence rate of temporary or permanent stomas has increased in recent years. Nevertheless, the amount of research in the nutrition field in the case of patients with stoma is rather limited. This review article aims to assess the impact of nutrition on an intestinal stoma and possible sequelae resolved with nutritional therapy. The research analyses conducted thus far indicate a significantly increased risk of developing malnutrition, vitamin deficiency (especially group B), and an increased number of discharges from the stoma and its relevance with abnormalities found in electrolyte concentrations.

Pandemic decrease of in-person physiotherapy as a factor in parent perceived decline in function in children with neuromuscular disorders.

PURPOSE: Restrictions related to the COVID-19 pandemic can negatively affect patients who require physiotherapy. This study aimed to analyze the consequences of limited physiotherapy on the functional state of children with neuromuscular diseases (NMD). In addition, the caregivers' well-being and caregiver opinions on physiotherapy were analyzed. METHODS: A questionnaire was shared with parents of children with NMD immediately after the COVID-19 lockdown. The survey included questions regarding the physical and mental condition of children and parents before the pandemic and during lockdown as well as their views on physiotherapy and telephysiotherapy. Statistical analysis was performed using the Wilcoxon Matched-Pairs Signed Ranks test, Spearman's Rank Correlation test, McNemar test, and Chi-square test. RESULTS: Parents of 235 children participated in the study. Results indicated that children devoted more time to physiotherapy before the pandemic than during the lockdown period, which was true for those living in cities and the countryside. The functional state of 50.2% of the children deteriorated during the lockdown, in the opinion of their parents. Significant correlations were found between limited physiotherapy time and the deterioration of children's functional condition, ability to maintain a standing position, and increased anxiety. The majority of parents reported increased levels of fear and anxiety (72.8%), fatigue (67.7%), and pain (53.2%). In-person physiotherapy was rated significantly higher than telephysiotherapy by parents. CONCLUSIONS: Limited access to physiotherapy and shorter therapy times may lead to functional deterioration in children with NMD, but this assumption needs to be objectively confirmed. According to the parents' opinions, telephysiotherapy is less beneficial than direct physiotherapy but may support therapy conducted directly by a physiotherapist. Results based on subjective parental opinions may be helpful in planning future projects.

Differential effects of stress-related and stress-unrelated humor in remitted depression.

Enhancing emotion regulation among previously depressed people is crucial for improving their resilience and reducing relapse. Therefore, emphasis is placed on determining effective regulation strategies, particularly those that, besides down-regulating negative emotions, also up-regulate positive emotions. One promising strategy, with great potential in both these respects, is humor. It is unclear, however, what type of humor is most adaptive in remitted depression. This study compared two distinct humor-based strategies: stress-related humor and stress-unrelated humor. Outpatients with remitted depression (N = 94) participated in a randomized experiment evoking personal stress and the subsequent application of stress-related humor, stress-unrelated humor, or a non-humorous regulation. They repeatedly reported positive and negative emotions (at four time points) and experienced distress (at three time points). There were also assessments of selective attention, subsequent performance, effort, and intrusive thoughts. Unlike non-humorous regulation, humor-based strategies had adaptive consequences, both immediately and after a delay; however, stress-unrelated humor was most beneficial and was the only effective strategy when attention deficits were present. Humor, especially if unrelated to stressors, might broaden the repertoire of powerful emotion regulation strategies in remitted depression. Humorous focusing on distress can be detrimental for patients with attention impairment.Clinical trial registration: The study was registered under the number ISRCTN86314628 (20/09/2021).

Using the TUG Test for the Functional Assessment of Patients with Selected Disorders.

One of the tests used for quantitative diagnostics is Timed Up-and-Go (TUG), however, no reports were found regarding the percentage share of individual test components, which seems to have a greater diagnostic value in differentiating the functional status of the patients. The aim of the study was to analyze the percentage of the individual components of the TUG test in functional assessment in a population of healthy children and in clinical trials patients with various diseases. MATERIAL AND METHODOLOGY: The material consisted of patients with orthopedic (n = 165), metabolic (n = 116) and neurological dysfunctions (n = 96). RESULTS: The components of the TUG test that differentiated the studied groups of patients to the greatest extent were in the order: relapse tug3%, initial transition tug2%, sitting tug5% and standing up tug1%, while during the final transition tug4% statistically significant differences were found only between healthy children and the studied groups of patients. CONCLUSIONS: The TUG test turned out to be a good diagnostic tool, differentiating the studied groups of patients. The analysis of the percentage of the components of the TUG test can help in assessing the mobility of children and adolescents, monitor the effects of physiotherapy or the effects of surgical procedures.

Neurodynamic Functions and Their Correlations with Postural Parameters in Adolescents with Idiopathic Scoliosis.

Knowledge about neurodynamic functions of the nervous system (NS) in patients with idiopathic scoliosis (IS) is limited. This study aimed to assess the mechanosensitivity of the NS structures (MNS) in adolescents with IS. The study included 69 adolescents with IS and 57 healthy peers aged 10-15 years. The Upper Limb Neurodynamic Test 1 (ULNT1), straight leg raise (SLR) test, and slump test (SLUMP) were used to assess MNS. The spinal curvatures in the sagittal plane and selected ranges of motion were measured. The data were analysed using the Mann-Whitney U test and Spearman's rank correlation. Increased MNS assessed by ULNT1 and SLUMP tests was observed in participants with IS. Values of the neurodynamic tests correlated significantly with the sagittal profile of the spine and the mobility of the spine and lower limbs in both groups. In conclusion, increased MNS occurs in adolescents with IS. Therefore, the examination of adolescents with IS should include an assessment of MNS with the neurodynamic tests. Future studies should investigate this issue to better understand the mechanisms that coexist with IS.

Hashimoto Thyroiditis, but Not Hypothyroidism Due to Other Causes, Is Associated with Lower Phase Angle Score in Adult Women: A Pilot Cross-Sectional Study.

PURPOSE: In recent years, Hashimoto's thyroiditis (HT) has become one of the commonest autoimmune diseases. Its clinical symptoms include systemic manifestations related mainly, but not solely, to thyroid hormone deficiency. The bioimpedance phase angle (PhA) is a reliable indicator of nutritional as well as cellular health status. PhA is decreased not only in malnutrition, but also in many inflammatory diseases. The aim of this study was to assess the relationship between HT and PhA score. METHODS: In this cross-sectional study, we compared the anthropometric, laboratory and body composition parameters of 49 women with HT and 98 propensity-score-matched women without thyroid disease. RESULTS: Females with HT had significantly lower PhA scores (5.78 ± 0.43) compared to women without a thyroid disorder (5.98 ± 0.49, p = 0.017). Regarding TSH levels, although they were within the normal range in all study participants, in women with HT, they were slightly but significantly higher. Women with HT treated with L-thyroxin had significantly higher PhA compared to their non-treated counterparts. No differences between women with non-HT hypothyroidism and the control group were found. CONCLUSIONS: Decreased PhA scores in patients with HT may indicate that the inflammatory process in this autoimmune disease has an influence on cellular health and on the function of the entire body. Such an association was not found in women with non-HT hypothyroidism.

Neuropathological Changes in the Brains of Suicide Killers.

BACKGROUND: Homicide combined with subsequent suicide of the perpetrator is a particular form of interpersonal violence and, at the same time, a manifestation of extreme aggression directed against oneself. Despite the relatively well-described individual acts of homicide and suicide, both in terms of psychopathology and law, acts of homicide and subsequent suicide committed by the same person are not well-studied phenomena. The importance of emotional factors, including the influence of mental state deviations (psychopathology), on this phenomenon, is discussed in the literature, but still there is relatively little data with which to attempt neuropathological assessments of the brains of suicide killers. This paper is dedicated to the issue based on the neuropathological studies performed. METHODS: We analyzed a group of murder-suicides using histochemical and immunohistochemical methods. RESULTS: The results of our research indicate the presence of neurodegenerative changes including multiple deposits of ß-amyloid in the form of senile/amyloid plaques and perivascular diffuse plaques. CONCLUSIONS: Neurodegenerative changes found in the analyzed brains of suicide killers may provide an interesting starting point for a number of analyses. The presence of neurodegenerative changes at such a young age in some murderers may suggest preclinical lesions that affect cognitive functions and are associated with depressed moods.

The Diagnostic Value of 99mTc-HMPAO-Labelled White Blood Cell Scintigraphy and 18F-FDG PET/CT in Cardiac Device-Related Infective Endocarditis-A Systematic Review.

(1) Background: Treatment of cardiac arrhythmias and conduction disorders with the implantation of a cardiac implantable electronic device (CIED) may lead to complications. Cardiac device-related infective endocarditis (CDRIE) stands out as being one of the most challenging in terms of its diagnosis and management. Developing molecular imaging modalities may provide additional insights into CDRIE diagnosis. (2) Methods: We performed a systematic literature review to critically appraise the evidence for the diagnostic performance of the following hybrid techniques: single photon emission tomography with technetium99m-hexamethylpropyleneamine oxime-labeled autologous leukocytes (99mTc-HMPAO-SPECT/CT) and positron emission tomography with fluorodeoxyglucose (18F-FDG PET/CT). An analysis was performed in accordance with PRISMA and GRADE criteria and included articles from PubMed, Embase and Cochrane databases. (3) Results: Initially, there were 2131 records identified which had been published between 1971-2021. Finally, 18 studies were included presenting original data on the diagnostic value of 99mTc-HMPAO-SPECT/CT or 18F-FDG PET/CT in CDRIE. Analysis showed that these molecular imaging modalities provide high diagnostic accuracy and their inclusion in diagnostic criteria improves CDRIE work-up. (4) Conclusions: 99mTc-HMPAO-SPECT/CT and 18F-FDG PET/CT provide high diagnostic value in the identification of patients at risk of CDRIE and should be considered for inclusion in the CDRIE diagnostic process.

The Role of Bioactive Compounds of Nigella sativa in Rheumatoid Arthritis Therapy-Current Reports.

Black cumin (Nigella sativa, NS) is included in the Ranunculaceae family and is classified as a medicinal plant due to very high levels of various bioactive compounds. They determine its therapeutic effects, including anti-inflammatory, anti-allergic, anti-cancer, hypoglycemic, antioxidant, hypotensive, hypolipidemic, and immunomodulating properties. The results of scientific studies indicate a supporting role of black cumin in the treatment of autoimmune diseases, including rheumatoid arthritis, due to the health-promoting properties of its bioactive ingredients. The aim of the current article is to analyze the results of scientific publications on the role of bioactive ingredients contained in black cumin in the treatment of rheumatoid arthritis.

Motor Function of Children with SMA1 and SMA2 Depends on the Neck and Trunk Muscle Strength, Deformation of the Spine, and the Range of Motion in the Limb Joints.

The purpose of this study was to investigate the functional relationships between selected ranges of motion of the neck, upper and lower limbs, the strength of the neck and trunk muscles, postural parameters, and the motor function of children with SMA1 and SMA2-27 children, aged 6 months-15 years, with genetically confirmed spinal muscular atrophy type 1 (19 children) and 2 (8 children) undergoing pharmacological treatment. All children were examined, according to the methodology, including the motor function evaluation, measurement of selected ranges of motion, assessment of postural parameters, and measurement of neck and trunk muscle strength. The functional status of 15 children was assessed with the CHOP INTEND (CHOP group) scale and of 12 children with the HFMSE (HFMSE group). The results obtained showed that, in children examined with the CHOP scale, greater limitation of flexion in the shoulder joints was observed. As the deformation of the chest increased, the functional abilities of children deteriorated. In participants examined with the CHOP group, the ranges of neck rotation decreased with the increase of the chest deformity. In the HFMSE group, the ranges of head rotation showed a strong relationship with some parameters of muscle strength and the sum of the R coefficients. Participants showed many significant relationships between the range of motion in the neck and joints of the limbs, with more significant relationships in the CHOP group. The following conclusions were made: motor skills of children with SMA depend on muscle strength, range of motion, and deformities of the spine and chest; the development of scoliosis adversely affects the motor function, ranges of motion, and muscle strength; and movement ranges are related to motor skills and strength values.

Neck and Trunk Muscle Strength in Children With Spinal Muscular Atrophy Is Lower Than in Healthy Controls and Depends on Disease Type.

Background: Neck and trunk muscle strength and relationship with motor function in individuals with spinal muscular atrophy (SMA) is not investigated well. Information on maximum muscle strength that children with SMA may develop considerably expands the possibilities of assessing the effectiveness of pharmacological treatment methods and therapeutic procedures. This study sought to assess neck and trunk muscle strength in patients with SMA and to compare it with values noted in healthy children. Methods: The study involved 56 individuals with SMA aged 5-16 not treated pharmacologically, including 9 patients with SMA type 1 (SMA1), 27 with SMA type 2 (SMA2), and 20 with SMA type 3 (SMA3). The control group included 111 healthy individuals aged 5-16. Neck and trunk muscle strength was assessed by means of a maximum voluntary isometric contraction method with the use of a handheld digital muscle tester MICROFET2. Moreover, relative strength was also calculated by standardising the maximum voluntary isometric contraction according to body mass. The Kruskal-Wallis test, Mann-Whitney U-test, and Spearman's rank correlation were used for statistical analysis. Results: The reliability of the neck and trunk muscle strength measurements with the handheld digital muscle tester was excellent with ICC > 0.9. The values of muscle strength in SMA groups were significantly lower than in the control group. The values of relative torque of the neck muscles expressed in percentage values calculated with regard to the control group were at the level of 47.6-51.6% in SMA1 group, 54.8-58.1% in SMA2 group and 80.6-90.3% in SMA3 group. The percentage values for upper and lower trunk muscle strength were at the level of 42.6-68.4% in SMA1 group, 56.9-75.4% in SMA2 group and 76.7-94.8% in SMA3 group. Conclusion: Handheld dynamometry provides reliable measures of neck and trunk muscle strength in SMA children. Neck and trunk muscle strength in children with SMA is lower than in healthy controls and depends on disease type, which confirms the theory based on clinical observations. Further, study is needed to investigate the effect of pharmacological treatment on the strength of the neck/trunk muscles, and relationship between neck and trunk muscle strength and motor capabilities.

Floppy infant syndrome as a first manifestation of LMNA-related congenital muscular dystrophy.

LMNA-related congenital muscular dystrophy (L-CMD) is the most severe phenotypic form of skeletal muscle laminopathies. This paper reports clinical presentation of the disease in 15 Polish patients from 13 families with genetically confirmed skeletal muscle laminopathy. In all these patients floppy infant syndrome was the first manifestation of the disease. The genetic diagnosis was established by next generation sequencing (targeted panel or exome; 11 patients) or classic Sanger sequencing (4 patients). In addition to known pathogenic LMNA variants: c.116A > G (p.Asn39Ser), c.745C > T (p.Arg249Trp), c.746G > A (p.Arg249Gln), c.1072G > A (p.Glu358Lys), c.1147G > A (p.Glu383Lys), c.1163G > C (p.Arg388Pro), c.1357C > T (p.Arg453Trp), c.1583C > G (p.Thr528Arg), we have identified three novel ones: c.121C > G (p.Arg41Gly), c.1127A > G (p.Tyr376Cys) and c.1160T > C (p.Leu387Pro). Eleven patients had de novo mutations, 4 - familial. In one family we observed intrafamilial variability of clinical course: severe L-CMD in the male proband, intermediate form in his sister and asymptomatic in their mother. One asymptomatic father had somatic mosaicism. L-CMD should be suspected in children with hypotonia in infancy and delayed motor development, who have poor head control, severe hyperlordosis and unstable and awkward gait. Serum creatine kinase may be high (~1000IU/l). Progression of muscle weakness is fast, leading to early immobilization. In some patients with L-CMD joint contractures can develop with time. MRI shows that the most frequently affected muscles are the serratus anterior, lumbar paraspinal, gluteus, vastus, adductor magnus, hamstrings, medial head of gastrocnemius and soleus. Ultra-rare laminopathies can be a relatively common cause of generalized hypotonia in children. Introduction of wide genome sequencing methods was a breakthrough in diagnostics of diseases with great clinical and genetic variability and allowed approach "from genotype do phenotype". However target sequencing of LMNA gene could be considered in selected patients with clinical picture suggestive for laminopathy.

Potential Immunomodulatory Effects from Consumption of Nutrients in Whole Foods and Supplements on the Frequency and Course of Infection: Preliminary Results.

A diet rich in nutrients should be implemented in order to boost the immune system and prevent infections. To investigate which nutrients are commonly consumed, an anonymous survey was given to 120 individuals and their responses were collected. The respondents answered questions relating to their health status, and their consumption of nutrients and supplements that produce immunomodulating effects. The participants were also asked about any prior viral, bacterial or fungal infections experienced, and in particular, infection frequency, course, and duration. The data collected were subjected to a statistical analyses to assess the relationship between the reported frequency of infections and nutrients consumed including vitamins D3, A, C, E, selenium, zinc, iron, ß-carotene, omega-3 fatty acids as well as live active probiotic bacteria. The findings show that vitamin and mineral supplementation did not positively affect the duration, frequency, or course of infections in the surveyed sample. An exception was vitamin D3 supplementation that was correlated to sporadic incidence of viral infections. Conversely, immunity was positively affected by consumption of natural nutrients contained in whole food (vitamin C, iron, selenium, omega-3 fatty acids), evidenced by lower incidences and milder courses of infection.

Cervical rotation, chest deformity and pelvic obliquity in patients with spinal muscular atrophy.

BACKGROUND: Musculoskeletal disorders are often observed in patients with spinal muscular atrophy (SMA). The aim of the study was to assess passive ranges of rotation in the cervical spine, chest deformity and pelvic obliquity in SMA patients, and to compare these results to the norms obtained in the group of healthy individuals. The second aim was to review these measurements and Cobb angle values for correlations in SMA patients. METHODS: The study included 74 patients with SMA and 89 healthy individuals aged 2 to 18 years. Cervical Rotation (CR), Supine Angle of Trunk Rotation (SATR) and Pelvic Obliquity (PO) tests were carried out. RESULTS: Cervical rotation ranges were significantly higher in the control group than in SMA patients (p < 0.05). Differences between cervical rotation ranges to the left and to the right were significantly larger in SMA I and SMA II groups than in healthy individuals (p = 0.000). Chest asymmetry and pelvic obliquity were bigger in SMA groups than in the control (p < 0.05). Significant correlations between cervical rotation measurements, chest deformity, pelvic obliquity and Cobb angle were found in SMA individuals, depending on the type. CONCLUSIONS: The results of the study suggest that CR, SATR and PO tests may assist in the assessment of SMA patients in addition to the radiographic evaluation of the spine. Biomechanical relationships between disorders located in various skeletal structures should be taken into account in the treatment of SMA patients. Special attention should be given to assessing postural parameters in non- sitters and sitters. Treatment of patients with SMA and associated musculoskeletal disorders requires a multi-specialist approach.

Gross Motor Function Disorders in Patients with Alternating Hemiplegia of Childhood.

BACKGROUND: Alternating hemiplegia of Childhood (AHC) is a rare disease manifested by transient episodes of hemiplegia and other neurological disorders. Delayed motor development has been reported in patients with AHC, but detailed features of the motor impairment have not been described so far. AIM: The aim of the study was to evaluate gross motor function between attacks in a group of Polish patients with AHC. MATERIALS AND METHODS: The interictal gross motor function was assessed using the Gross Motor Function AHC scale, which consisted of 41 motor tasks. The study group consisted of 10 patients with AHC older than 2 years of age. The control group consisted of 30 age- and gender-matched subjects. The results achieved in each of the 41 tasks by the study subjects were compared to the results obtained with controls using the non-parametric Mann-Whitney U-test. In tasks 38-41, mean times were compared between the study subjects and controls. RESULTS: The study revealed gross motor function impairment in patients with AHC. The greatest differences compared to controls concerned such skills as standing on toes, walking on toes, walking on heels, as well as running and hopping on one leg and on alternate legs. Significant impairment of the motor function of the upper limbs was also found. CONCLUSIONS: The study confirmed motor function impairment between attacks in patients with AHC. The study findings may indicate the need to introduce individualised physiotherapy management of patients with AHC.