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1.
Front Neurol ; 14: 1256392, 2023.
Article in English | MEDLINE | ID: mdl-37799279

ABSTRACT

Background: Hereditary spastic paraplegias (HSPs) are a group of inheritance diseases resulting in gait abnormalities, which may be detected using instrumented gait analysis. The aim of this systematic review was 2-fold: to identify specific gait analysis patterns and interventions improving gait in HSP subjects. Methods: A systematic review was conducted in PubMed, Cochrane Library, REHABDATA, and PEDro databases, in accordance with reporting guidelines of PRISMA statement and Cochrane's recommendation. The review protocol was recorded on the PROSPERO register. Patients with pure and complicated HSP of any age were included. All types of studies were included. Risk of bias, quality assessment, and meta-analysis were performed. Results: Forty-two studies were included: 19 were related to gait analysis patterns, and 24 were intervention studies. The latter ones were limited to adults. HSP gait patterns were similar to cerebral palsy in younger subjects and stroke in adults. Knee hyperextension, reduced range of motion at knee, ankle, and hip, reduced foot lift, and increased rapid trunk and arm movements were reported. Botulinum injections reduced spasticity but uncovered weakness and improved gait velocity at follow-up. Weak evidence supported intrathecal baclofen, active intensive physical therapy (i.e., robot-assisted gait training, functional exercises, and hydrotherapy), and functional electrical stimulation. Some improvements but adverse events were reported after transcranial magnetic stimulation, transcutaneous spinal direct current stimulation, and spinal cord stimulation implant. Conclusion: Knee hyperextension, non-sagittal pelvic movements, and reduced ROM at the knee, ankle, and hip represent the most peculiar patterns in HSP, compared to diplegic cerebral palsy and stroke. Botulinum improved comfortable gait velocity after 2 months. Nonetheless, interventions reducing spasticity might result in ineffective functional outcomes unveiling weakness. Intensive active physical therapy and FES might improve gait velocity in the very short term.

2.
Eur J Phys Rehabil Med ; 59(6): 714-723, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37796120

ABSTRACT

BACKGROUND: Hip displacement (HD) and dislocation in severe Cerebral Palsy (CP) (GMFCS III, IV, V) are important causes of worsening disability and quality of life. Prevention must be started from the first months of life through screening programs and early treatments, both conservative and surgical. Evidence from Clinical Practice Guidelines also suggests the development of Care Pathways for good clinical practice. At the beginning of 2020 an interdisciplinary, multi-professional working group, composed of 26 members (including Physiatrists, Physiotherapist, Neuro-psychomotor Therapists and Orthopedists representing the respective Italian Scientific Societies) with the involvement of the FightTheStroke Foundation families' association, was set up. AIM: The aim of the multi-professional panel was the production of evidence-based recommendations for the Care Pathway "Prevention of Hip Displacement in children and adolescents with severe CP" for best clinical practice implementation in our national context. DESIGN: Clinical Care Pathway (Clinical Practice Guideline). SETTING: Inpatient and outpatient. POPULATION: Children with severe CP (GMFCS III-IV-V). METHODS: The recommendations of this Care Pathway were developed using the American Academy for Cerebral Palsy and Developmental Medicine (AACPDM) guidelines for Care Pathways development and the Grading of Recommendations Assessment Development and Evaluation (GRADE ADOLOPMENT) working group for adoption or adaption or de novo development of recommendations from high-quality guidelines. In 2020 a multidisciplinary working group (WG) developed four research questions on the prevention of HD on the following topics: screening, botulinum toxin treatment, postural management and preventive soft tissue surgery. A comprehensive review of the biomedical literature was performed on each question. Guidelines, Systematic Reviews and Primary studies were retrieved through a top-down approach. References were screened according to inclusion criteria and quality was assessed by means of specific tools. A list of recommendations was then produced divided by intervention (screening programs, postural management, botulinum toxin, preventive surgery). In a series of meetings, the panel graduated recommendations using the GRADE evidence to decision frameworks. RESULTS: Fifteen recommendations were developed: seven on screening programs, four on postural management strategies, one on botulinum toxin, and three on preventive surgery. Evidence quality was variable (from very low to moderate) and only a few strong recommendations were made. CONCLUSIONS: In severe CP at high risk of hip dislocation, it is strongly recommended to start early hip surveillance programs. In our national context, there is a need to implement Screening programs and dedicated Network teams. We also strongly recommend a comprehensive approach shared with the families and goal-oriented by integrating the different therapeutic interventions, both conservative and not, within Screening programs. CLINICAL REHABILITATION IMPACT: Implementing a comprehensive multi-professional approach for the prevention of hip dislocation in severe CP.


Subject(s)
Botulinum Toxins , Cerebral Palsy , Hip Dislocation , Child , Adolescent , Humans , Hip Dislocation/etiology , Hip Dislocation/prevention & control , Critical Pathways , Cerebral Palsy/complications , Quality of Life
3.
Children (Basel) ; 10(9)2023 Sep 09.
Article in English | MEDLINE | ID: mdl-37761490

ABSTRACT

(1) Aims: to evaluate the effect on gait performance and standing stability of ankle-foot orthoses (AFO) in pediatric patients with hereditary motor-sensory neuropathy (HMSN). (2) Methods: a retrospective case-series study including three adolescents (S1, S2, S3, mean age 14 years) with HMSN. The subjects were evaluated barefoot, with carbon AFO (Botter) and with solid AFO (SAFO) by means of: gait analysis, stabilometry and gait functional tests (10 Meter Walk Test, 2 Minute Walk Test). Finally, the CSD-OPUS questionnaire was administered to the assess satisfaction and impact of the orthoses on life quality. (3) Results: orthoses improved gait and stability performance. Botter allowed greater ankle movement than SAFO and provided greater push-off power. This, combined with the carbon elastic energy return, might explain better performances in the 2MWT, with a larger distance traveled compared to SAFO for both S1 (110 m vs. 72 m) and S2 (170 m vs. 155 m) and, compared to barefoot walking, also for S3 (211 m vs. 160 m), for which SAFO analysis was not available. Both orthoses improved performance at the stabilometric analysis. The CSD-OPUS questionnaire showed a significantly higher level of satisfaction with Botter for the subjects (S1, S2) who completed the comparison. (4) Conclusions: Both orthoses improved gait and standing, though Botter proved to be better tolerated and more effective in improving gait endurance.

4.
Front Neurol ; 14: 1171224, 2023.
Article in English | MEDLINE | ID: mdl-37305763

ABSTRACT

Background: Evidence regarding the management of several aspects of cerebral palsy improved in recent years. Still, discrepancies are reported in clinical practice. Italian professionals and stakeholders expressed the need of setting up updated, evidenced-based, shared statements, to address clinical practice in cerebral palsy rehabilitation. The objective of the present study was to provide an updated overview of the state of knowledge, regarding the management and motor rehabilitation of children and young people with cerebral palsy, as the framework to develop evidence-based recommendations on this topic. Methods: Guidelines and systematic reviews were searched, relative to evidence-based management and motor treatment, aimed at improving gross motor and manual function and activities, in subjects with cerebral palsy, aged 2-18 years. A systematic search according to the Patients Intervention Control Outcome framework was executed on multiple sites. Independent evaluators provided selection and quality assessment of the studies and extraction of data. Results: Four guidelines, 43 systematic reviews, and three primary studies were included. Agreement among guidelines was reported relative to the general requirements of management and motor treatment. Considering the subject's multidimensional profile, age and developmentally appropriate activities were recommended to set individual goals and interventions. Only a few approaches were supported by high-level evidence (i.e., bimanual therapy and constraint-induced movement therapy to enhance manual performance). Several task-specific active approaches, to improve gross motor function and gait, were reported (mobility and gait training, cycling, backward gait, and treadmill), based on low-level evidence. Increasing daily physical activity and countering sedentary behavior were advised. Based on the available evidence, non-invasive brain stimulation, virtual reality, action-observation therapy, hydrotherapy, and hippotherapy might be complementary to task or goal-oriented physical therapy programs. Conclusion: A multiple-disciplinary family-centered evidence-based management is recommended. All motor rehabilitation approaches to minors affected by cerebral palsy must share the following fundamental characteristics: engaging active involvement of the subject, individualized, age and developmentally appropriate, goal-directed, skill-based, and preferably intensive and time-limited, but suitable for the needs and preferences of the child or young person and their family, and feasible considering the implications for themselves and possible contextual limitations.

5.
J Pers Med ; 13(4)2023 Apr 06.
Article in English | MEDLINE | ID: mdl-37109023

ABSTRACT

(1) Background: Atidarsagene autotemcel is a hematopoietic stem and progenitor cell gene therapy (HSPC-GT) approved to treat early-onset metachromatic leukodystrophy (MLD). The purpose of this case report is to describe the long-term management of residual gait impairment of a child with late infantile MLD treated with HSPC-GT. (2) Methods: Assessment included Gross Motor Function Measure-88, nerve conduction study, body mass index (BMI), Modified Tardieu Scale, passive range of motion, modified Medical Research Council scale, and gait analysis. Interventions included orthoses, a walker, orthopedic surgery, physiotherapy, and botulinum. (3) Results: Orthoses and a walker were fundamental to maintaining ambulation. Orthopedic surgery positively influenced gait by reducing equinovarus. Nonetheless, unilateral recurrence of varo-supination was observed, attributable to spasticity and muscle imbalance. Botulinum improved foot alignment but induced transient overall weakness. A significant increase in BMI occurred. Finally, a shift to bilateral valgopronation was observed, more easily managed with orthoses. (4) Conclusions: HSPC-GT preserved survival and locomotor abilities. Rehabilitation was then considered fundamental as a complementary treatment. Muscle imbalance and increased BMI contributed to gait deterioration in the growing phase. Caution is recommended when considering botulinum in similar subjects, as the risk of inducing overall weakness can outweigh the benefits of spasticity reduction.

6.
J Rehabil Med ; 55: jrm00370, 2023 Feb 20.
Article in English | MEDLINE | ID: mdl-36807992

ABSTRACT

OBJECTIVE: To define the anatomical landmarks of tibial motor nerve branches for selective motor nerve blocks of the gastrocnemii,  soleus and tibialis posterior muscles in the management of spastic equinovarus foot. DESIGN: Observational study. PATIENTS: Twenty-four children with cerebral palsy with spastic equinovarus foot. METHODS: Considering the affected leg length, motor nerve branches to the gastrocnemii, soleus and tibialis posterior muscles were tracked using ultrasonography, and located in the space (vertical, horizontal, deep) according to the position of fibular head (proximal/distal) and a virtual line from the middle of popliteal fossa to the Achilles tendon insertion (medial/lateral). RESULTS: Location of motor branches was defined as percentage of the affected leg length. Mean coordinates were: for the gastrocnemius medialis 2.5 ± 1.2% vertical (proximal), 1.0 ± 0.7% horizontal (medial), 1.5 ± 0.4% deep; for the gastrocnemius lateralis 2.3 ± 1.4% vertical (proximal), 1.1 ± 0.9% horizontal (lateral), 1.6 ± 0.4% deep; for the soleus 2.1 ± 0.9% vertical (distal), 0.9 ± 0.7% horizontal (lateral), 2.2 ± 0.6% deep; for the tibialis posterior 2.6 ± 1.2% vertical (distal), 1.3 ± 1.1% horizontal (lateral), 3.0 ± 0.7% deep. CONCLUSION: These findings may help the identification of tibial motor nerve branches to perform selective nerve blocks in patients with cerebral palsy with spastic equinovarus foot.


Subject(s)
Cerebral Palsy , Clubfoot , Nerve Block , Humans , Child , Leg , Muscle Spasticity , Muscle, Skeletal/innervation , Tibial Nerve
7.
Eur J Phys Rehabil Med ; 59(1): 32-41, 2023 Feb.
Article in English | MEDLINE | ID: mdl-36507793

ABSTRACT

BACKGROUND: Hip pain is common in cerebral palsy children, particularly at Gross-Motor Function Classification System level IV-V. It is associated to hip displacement and relates to the migration percentage. Recent literature suggested early reconstructive bone surgery, as the best approach to prevent hip luxation, then hip pain. Still, high rates of hip pain are reported. AIM: To investigate prevalence and determinants of hip pain in an Italian cerebral palsy sample. DESIGN: Single-center retrospective cohort study. SETTING: Inpatient and outpatient. POPULATION: Patients with spastic or dyskinetic cerebral palsy, Gross-Motor Function Classification System level IV or V, age 0-18. METHODS: A chart review was implemented to report hip pain, as a dichotomous variable (pain/no pain), age, sex, cerebral palsy subtype, Gross-Motor Function level, lumbar scoliosis, migration percentage, previous orthopedic surgery, or botulinum injections, oral or intrathecal baclofen, drug-resistant epilepsy, assistive devices for standing or walking. Descriptive statistics and a multivariate logistic stepwise regression were performed. RESULTS: A total of 504 subjects were included: 302 level V, 209 females, 432 spastics. The mean length of follow-up was 6 years. The overall prevalence of hip pain was 8.9% (6.3% were at level V) and of hip dislocation was 19% (15.9% were at level V). Just 39% of dislocated hips were painful. Children at spastic subtype and level V were predominantly affected. Botulinum and soft tissue surgery related to lower rates of hip pain, without statistical significance. Age (OR 1.19, 95%CI 1.14-1.25, P value 0.000), sex (OR 1.72, 95%CI 1.18-2.52, P value 0.005), migration percentage (OR 1.02, 95%CI 1.02-1.03, P value 0.000) and lumbar scoliosis (OR 1.32, 95%CI 0.86-2.01, P value 0.200) resulted significant independent determinants of hip pain. CONCLUSIONS: Hip pain relates with the migration percentage, but not all dislocated hips become painful. Hip pain may be transient and requires a targeted and individualized approach. Children at spastic subtype and level V were predominantly affected. Age and sex are confirmed as determinants. Specific validated measures are to be implemented to assess hip pain. CLINICAL REHABILITATION IMPACT: Considering severe non-ambulatory cerebral palsy patients, pain and quality of life should be considered as outcomes, in the management of hip luxation.


Subject(s)
Cerebral Palsy , Hip Dislocation , Scoliosis , Female , Humans , Child , Infant, Newborn , Infant , Child, Preschool , Adolescent , Retrospective Studies , Muscle Spasticity/epidemiology , Quality of Life , Cerebral Palsy/complications , Cerebral Palsy/epidemiology , Prevalence , Arthralgia , Hip Dislocation/epidemiology , Hip Dislocation/surgery
8.
Children (Basel) ; 9(12)2022 Dec 16.
Article in English | MEDLINE | ID: mdl-36553423

ABSTRACT

Progressive pseudorheumatoid dysplasia (PPRD) is an autosomal recessive inherited skeletal dysplasia characterized by progressive non-inflammatory arthropathy affecting primarily the articular cartilage. Currently, little is known about the functional musculoskeletal aspects of these patients. In particular, an abnormal gait pattern has been described, without a clear hypothesis of the underlying causes in terms of muscular activity. This study presents the case of two siblings, 4 and 9 years old, a boy and a girl, respectively, suffering from PPRD at different stages of the disease. In addition to the clinical assessment, an instrumental gait analysis was performed. Swelling of the interphalangeal finger joints and fatigue were present in both cases. Gait abnormalities consisted of a relevant reduction in the ankle plantarflexion in the terminal phase of the gait cycle, associated with reduced gastrocnemius EMG activity and increased activity of the tibialis anterior, resulting in overloading at the initial peak of ground reaction forces. Gait anomalies observed were similar in both siblings with PPRD, although at different ages, and confirm walking patterns previously described in the literature. The calf muscle strength deficit and reduced activity during the stance phase of gait present in these two siblings indicate the typical absence of the propulsive phase. A stomping gait pattern, with the foot striking the ground hard on each step, was originally described. Further neurophysiological investigations are required to determine the origin of muscle weakness.

9.
Int J Rehabil Res ; 45(4): 319-328, 2022 Dec 01.
Article in English | MEDLINE | ID: mdl-36059222

ABSTRACT

The study's aim was two-fold: to describe the trend of hip subluxation in the largest sample of Italian nonambulatory cerebral palsy (CP) children ever published; to investigate its determinants. This single-centre retrospective cohort study included patients with spastic or dyskinetic CP, Gross Motor Function Classification System (GMFCS) level IV or V, age 0-18 years, having been referred to our unit before March 2020. The hip subluxation was measured by means of the migration percentage (MP). Other data were gathered such as sex, CP subtype, GMFCS level, presence of drug-resistant epilepsy, age, use of walkers with weight relief or standing devices, previous botulinum injection or hip surgery, oral or intrathecal baclofen and hip pain. Multiple linear stepwise regression was performed and descriptive statistics are provided. Spastic CP had MP maximum increase in early ages, with GMFCS level V values persistently higher than level IV. The dyskinetic subtype showed a slower increase of the MP, with GMFCS level IV presenting similar or higher values, compared to level V. Age, CP severity and spastic subtype are the main determinants. The stepwise multiple regression analysis demonstrated that weight relief walking and standing assistive devices, combined with botulinum contributed to reduce the MP progression. Dyskinetic CP showed overall lower MP values and a more variable behaviour relative to age and GMFCS level, compared to the spastic subtype. Standing and walking assistive devices, with partial or total weight relief, combined with individually targeted botulinum injections, should be considered in the management of bilateral nonambulatory CP patients, to prevent hip subluxation or its recurrence after surgery.


Subject(s)
Cerebral Palsy , Hip Dislocation , Child , Humans , Infant, Newborn , Infant , Child, Preschool , Adolescent , Hip Dislocation/prevention & control , Hip Dislocation/surgery , Retrospective Studies , Muscle Spasticity
10.
J Child Orthop ; 16(3): 227-232, 2022 Jun.
Article in English | MEDLINE | ID: mdl-35800654

ABSTRACT

Purpose: The migration percentage is a widely used criterion for surgery in displaced hips. Literature suggests that no hip can spontaneously improve if the migration percentage exceeds 45%, in a mixed population of cerebral palsy children. The aim of the present article was to identify the point of no return of the migration percentage in a selected sample of non-ambulatory cerebral palsy children, being the most exposed to hip luxation. Methods: This single-center retrospective cohort study included patients with spastic or dyskinetic cerebral palsy, Gross Motor Function Classification System level IV or V, age 0-18, having at least three pelvic radiographies, excluding radiographies relative to hips having previously undergone surgery. The following information was collected: sex, cerebral palsy subtype, Gross Motor Function Classification System level, presence of drug-resistant epilepsy, migration percentage, age at assessment, use of walking or standing assistive devices, previous botulinum injection, oral or intrathecal baclofen, and hip pain. Data were analyzed at the level of the individual hips. Descriptive statistics were presented. Receiver operating characteristic curve analysis was conducted to investigate which value of the migration percentage could be adopted as the "point of no return": that is, the cutoff value beyond which no migration percentage reduction, by more than 5%, could be expected. Results: The optimal cutoff value was identified as migration percentage ≥50%, with a sensitivity of 84.5% and a specificity of 100% (p-value <0.001). Conclusion: Based on the present study, migration percentage ≥50% is the "point of no return" for Gross Motor Function Classification System IV-V cerebral palsy patients, representing the cutoff value beyond which no spontaneous cerebral palsy reduction may be expected, unless addressing surgery. Level of evidence: level II-retrospective study.

11.
Article in English | MEDLINE | ID: mdl-33578678

ABSTRACT

The COVID-19 emergency has imposed distanced education and has interrupted most rehabilitation services. Adolescents with disabilities have been isolated, and the burden on their families has been exacerbated. A cross-sectional survey was administered to adolescents with disability and to parents of disabled children to describe their experience during lockdown and their concerns or expectations about rehabilitation. A sample of 53 adolescents and 239 parents completed the survey. Adolescents were ages 13-18 years old (45.3% female). Most parents were between 35 and 55 years old (84.9% female). While 53.6% of the parents reported no positive effects of the lockdown, 92.5% of the adolescents expressed favorable consequences. The increased time spent with family members was judged positively by 27.2% of parents and by 64.2% of adolescents. Concern for their child's disability was expressed by 47.3% of parents, while 73.6% of adolescents expressed concerns regarding the ban on meeting friends. In both groups, anxiety symptoms were correlated with the fear of contracting COVID-19 and with financial problems. Parents would have liked even more remote support from school and healthcare professionals, which was available for most participants. Thus, socioeconomic support, assistive technology and telerehabilitation strategies might help families with disabilities during a lockdown.


Subject(s)
COVID-19 , Communicable Disease Control , Disabled Children/rehabilitation , Adolescent , Adult , Cross-Sectional Studies , Family , Female , Humans , Interpersonal Relations , Italy , Male , Middle Aged , Pandemics , Social Behavior , Surveys and Questionnaires
12.
Genes (Basel) ; 13(1)2021 12 23.
Article in English | MEDLINE | ID: mdl-35052370

ABSTRACT

The term "arthrogryposis" is used to indicate multiple congenital contractures affecting two or more areas of the body. Arthrogryposis is the consequence of an impairment of embryofetal neuromuscular function and development. The causes of arthrogryposis are multiple, and in newborns, it is difficult to predict the molecular defect as well as the clinical evolution just based on clinical findings. We studied a consecutive series of 13 participants who had amyoplasia, distal arthrogryposis (DA), or syndromic forms of arthrogryposis with normal intellectual development and other motor abilities. The underlying pathogenic variants were identified in 11 out of 13 participants. Correlating the genotype with the clinical features indicated that prenatal findings were specific for DA; this was helpful to identify familial cases, but features were non-specific for the involved gene. Perinatal clinical findings were similar among the participants, except for amyoplasia. Dilatation of the aortic root led to the diagnosis of Loeys-Dietz syndrome (LDS) in one case. The phenotype of DA type 5D (DA5D) and Escobar syndrome became more characteristic at later ages due to more pronounced pterygia. Follow-up indicated that DA type 1 (DA1)/DA type 2B (DA2B) spectrum and LDS had a more favorable course than the other forms. Hand clenching and talipes equinovarus/rocker bottom foot showed an improvement in all participants, and adducted thumb resolved in all forms except in amyoplasia. The combination of clinical evaluation with Next Generation Sequencing (NGS) analysis in the newborn may allow for an early diagnosis and, particularly in the DAs, suggests a favorable prognosis.


Subject(s)
Arthrogryposis/genetics , Abnormalities, Multiple/genetics , Adolescent , Adult , Child , Child, Preschool , Conjunctiva/abnormalities , Female , Genotype , Humans , Loeys-Dietz Syndrome/genetics , Male , Malignant Hyperthermia/genetics , Middle Aged , Mutation/genetics , Pedigree , Phenotype , Pregnancy , Pterygium/genetics , Skin Abnormalities/genetics
13.
Genes (Basel) ; 10(10)2019 10 12.
Article in English | MEDLINE | ID: mdl-31614862

ABSTRACT

Variations in genes encoding for the enzymes responsible for synthesizing the linker region of proteoglycans may result in recessive conditions known as "linkeropathies". The two phenotypes related to mutations in genes B4GALT7 and B3GALT6 (encoding for galactosyltransferase I and II respectively) are similar, characterized by short stature, hypotonia, joint hypermobility, skeletal features and a suggestive face with prominent forehead, thin soft tissue and prominent eyes. The most outstanding feature of these disorders is the combination of severe connective tissue involvement, often manifesting in newborns and infants, and skeletal dysplasia that becomes apparent during childhood. Here, we intend to more accurately define some of the clinical features of B4GALT7 and B3GALT6-related conditions and underline the extreme hypermobility of distal joints and the soft, doughy skin on the hands and feet as features that may be useful as the first clues for a correct diagnosis.


Subject(s)
Ehlers-Danlos Syndrome/diagnosis , Ehlers-Danlos Syndrome/genetics , Galactosyltransferases/genetics , Cells, Cultured , Child , Child, Preschool , Ehlers-Danlos Syndrome/pathology , Humans , Joint Instability/genetics , Male , Muscle Hypotonia/genetics , Mutation , Osteochondrodysplasias/genetics , Phenotype
14.
J Clin Endocrinol Metab ; 100(9): 3364-71, 2015 Sep.
Article in English | MEDLINE | ID: mdl-26186298

ABSTRACT

CONTEXT: Fat may accumulate around the heart in epicardial adipose tissue or inside the heart as lipid droplets (LDs). OBJECTIVE: To compare myocardial steatosis between subjects with and without coronary artery disease (CAD and non-CAD) and to identify which cells contain LDs. DESIGN: Body mass index, waist circumference, glucose, insulin, homeostasis model assessment index, leptin, adiponectin, and high-sensitivity C-reactive protein were evaluated in CAD and non-CAD subjects. Biopsies were collected from right atrial myocardium. Immunohistochemistry for perilipin (PLIN) 1 and 2 was used to characterize LDs and their localization in adipocytes or myocardial cells, respectively. Cardiomyocytes apoptosis and hypoxia inducible factor 1 alpha were obtained in a subgroup of subjects. SETTING: The study took place in a hospital. PATIENTS: Male subjects consecutively undergoing elective cardiac surgery either for coronary bypass grafting (CAD, n = 23) or for valve replacement (non-CAD, n = 18). MAIN OUTCOMES AND MEASURES: The study was designed to compare myocardial steatosis between subjects with and without coronary artery disease. RESULTS: PLIN1 and PLIN2 resulted significantly higher in CAD than in non-CAD subjects, as did apoptosis. PLIN1 was positively associated with circulating leptin, high-sensitivity C-reactive protein, and apoptosis, and negatively with adiponectin. PLIN2 was positively associated with body mass index, waist circumference, and leptin and negatively with adiponectin. After taking into account the absence/presence of hypertension, diabetes, and CAD/non-CAD, adiponectin was negatively associated with PLIN1 (r(2) = 0.532); waist circumference and adiponectin were associated with PLIN2 (r(2) = 0.399). CONCLUSIONS: Myocardial steatosis is greater in CAD than non-CAD subjects, depending on both metabolically active adipocytes interspersed among cardiomyocytes and higher fat deposition inside cardiomyocytes; serum adiponectin and waist circumference are independent predictors of myocardial steatosis.


Subject(s)
Adipose Tissue/pathology , Coronary Artery Disease/pathology , Myocardium/pathology , Pericardium/pathology , Adiponectin/blood , Adipose Tissue/metabolism , Aged , Body Mass Index , C-Reactive Protein/metabolism , Carrier Proteins/metabolism , Coronary Artery Disease/metabolism , Humans , Insulin Resistance/physiology , Leptin/blood , Male , Membrane Proteins/metabolism , Middle Aged , Myocardium/metabolism , Pericardium/metabolism , Perilipin-1 , Perilipin-2 , Phosphoproteins/metabolism , Waist Circumference
15.
Heart Vessels ; 29(1): 42-8, 2014 Jan.
Article in English | MEDLINE | ID: mdl-23296264

ABSTRACT

In recent years, evidence has emerged indicating that insulin resistance and diabetes mellitus type 2 are associated with inflammation of adipose tissue (AT). Interest has been focused on epicardial AT (EAT) because of its possible involvement with atherosclerosis and cardiovascular diseases. The aim of this study was to characterize adipocyte size and inflammatory profile in subcutaneous (SAT) and EAT among subjects with or without diabetes. Biopsies were collected from SAT and EAT in 34 men undergoing elective cardiac surgery. Weight, height, body mass index, waist circumference, as well as serum levels of glucose, insulin, lipids, adiponectin, and leptin were determined in all subjects. Adiponectin, MCP-1, and CD68 mRNA levels present within cells from AT biopsies were determined by real-time polymerase chain reaction. Adipocyte size was determined by optic microscopy and morphometry. Regarding the experimental group as a whole, gene-expression levels within EAT were significantly lower for adiponectin and higher, albeit not significantly, for MCP-1, when compared with that of SAT. In addition, adipocytes in EAT were significantly smaller than those in SAT. Subjects with diabetes showed lower adiponectin gene-expression levels in both SAT and EAT when compared with subjects without diabetes. By contrast, MCP-1 and CD68 gene-expression levels were higher in both tissue types of diabetic subjects. Adipocyte size in EAT was significantly larger in diabetic subjects than in nondiabetic subjects. Our data revealed a predominantly inflammatory profile in both SAT and EAT in subjects with diabetes in comparison with those without diabetes.


Subject(s)
Adipocytes/immunology , Diabetes Mellitus/immunology , Inflammation Mediators/analysis , Inflammation/immunology , Pericardium/immunology , Subcutaneous Fat/immunology , Adipocytes/pathology , Adiponectin/genetics , Aged , Aged, 80 and over , Antigens, CD/genetics , Antigens, Differentiation, Myelomonocytic/genetics , Biopsy , Cell Size , Chemokine CCL2/genetics , Diabetes Mellitus/genetics , Diabetes Mellitus/pathology , Gene Expression Regulation , Genetic Markers , Humans , Inflammation/genetics , Inflammation/pathology , Male , Middle Aged , Pericardium/pathology , RNA, Messenger/analysis , Risk Factors , Sex Factors , Subcutaneous Fat/pathology
16.
Arch Phys Med Rehabil ; 84(11): 1692-702, 2003 Nov.
Article in English | MEDLINE | ID: mdl-14639572

ABSTRACT

OBJECTIVE: To assess the effectiveness of a rehabilitative training program for deficits in somatic sensation and motor control of the hand in patients with pure sensory stroke. DESIGN: Multiple baseline and before-after follow-up trial with behavioral analysis of single cases. SETTING: Rehabilitation unit of a university hospital in Italy. PARTICIPANTS: Four patients were studied: 2 had a unilateral lesion confined to the parietal lobe (patients 1, 2), and 2 had a unilateral lesion of the thalamus (patients 3, 4) that also lapped the posterior limb of the internal capsule. All 4 patients had chronic deficits in somatic sensation and motor control of the contralesional hand. INTERVENTION: Behavioral training consisting of exercises aimed at improving somatic sensation and motor control of the affected, contralesional hand. Thirty treatment sessions, each lasting 50 minutes, were performed. MAIN OUTCOME MEASURES: Somatic deficit was evaluated with 5 tests, and motor control deficit was assessed with 4 tests. One functional test estimated the influence of somatic deficit on daily activities. A visual analog scale (VAS) was also submitted to the patients' relatives to evaluate the amount of use of the affected arm in daily life activities. A baseline was obtained by recording each measure, except for the VAS, 4 times at the first evaluation session. Evaluation sessions were conducted before, after, and 6 months after the end of the experimental treatment. RESULTS: All patients showed a stable baseline in at least 8 of the outcome measures. Patients 1 and 2 significantly improved in 9 and 7 outcome measures, respectively. Patients 3 and 4 improved in 4 and 7 outcome measures, respectively. With the exception of case 3, all patients considerably increased their use of the affected arm during daily life. The improvement was generally stable over a 6-month period, suggesting that the treatment had a long-term effect. CONCLUSIONS: Results suggest the possible effectiveness of our training program for treating somatic and motor control deficits of the hand in patients with cortical or subcortical pure sensory stroke.


Subject(s)
Movement Disorders/rehabilitation , Somatosensory Disorders/rehabilitation , Stroke Rehabilitation , Adult , Disability Evaluation , Exercise Therapy , Female , Hand , Humans , Italy , Male , Middle Aged , Motor Skills , Movement Disorders/etiology , Recovery of Function , Somatosensory Disorders/etiology , Stroke/physiopathology
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