[COMMUNITY-BASED REHABILITATION: IMPORTANCE, PRINCIPLES AND ADVANCEMENT IN ISRAEL].

Medical rehabilitation is developing rapidly in Israel and around the world due to the aging of the population, improvement of results of medical care, and growing awareness of the importance of rehabilitation medicine. An option of comprehensive community rehabilitation treatment is also developing quickly, both in the model of replacing hospitalization and as a professional treatment after early discharge from an inpatient program. Rehabilitation in the community has many benefits, including financial, high patient satisfaction, and in some cases even more successful results of rehabilitation.

[REHABILITATION MEDICINE IN DEPTH AND WIDTH].

Modern rehabilitation medicine focuses on evaluating and treating patients whose quality of life has been compromised by medical conditions. This field endeavors to enhance well-being and independence levels by adopting a comprehensive approach that addresses physical, mental, psychological, and social aspects, while incorporating advancements in medical research. Grounded in the International Classification of Functioning, Disability, and Health (ICF) model by the World Health Organization, rehabilitation targets diverse levels of functional impairment.

Exertional rhabdomyolysis in carbonic anhydrase 12 deficiency.

Background: Carbonic anhydrase 12 (CA12) deficiency, a newly recognized rare disorder, has been described among Israeli Bedouin kindred as an autosomal recessive form of isolated salt wasting in sweat, which leads to severe infantile hyponatremic dehydration, visible salt precipitation after sweating, poor feeding and slow weight gain in infancy.

Case Presentation: We present two adolescents diagnosed with CA12 deficiency who developed severe rhabdomyolysis as a result of physical activity in a hot climate.

Conclusions: This presentation highlights a previously unreported but significant clinical complication of this disorder and emphasizes the persistent risk of excessive salt loss via sweat and a need for certain precautions, such as increased salt intake and avoidance of prolonged and/or strenuous exercise.

Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency.

Phosphoglucomutase 1 (PGM1, EC 5.4.2.

Neutrophil functions in morbidly obese subjects.

The present study aimed to determine different peripheral blood neutrophil functions in 18 morbidly obese subjects with body mass index (BMI) ranging between 35 and 69 kg/m(2) in parallel with age- and gender-matched lean controls. Peripheral blood neutrophil functions of obese subjects and matched lean controls were determined. Neutrophils of obese subjects showed significant elevation of the release of basal superoxides (P < 0.

Pharmacological preconditioning with adenosine A(1) receptor agonist suppresses cellular immune response by an A(2A) receptor dependent mechanism.

Under stressful conditions such as ischemia, sepsis, and severe trauma, adenosine levels are elevated and protect the tissue by interaction with G coupled receptors. In a model of peritonitis, we previously found that pharmacological preconditioning (PPC) of mice with a selective adenosine A1 receptor (A1R) agonist, 2-chloro-N(6)-cyclopentyladenosine (CCPA), induced the A2AR which reduces cytokine secretion and leukocyte recruitment. In our present study we determined whether mice PPC will moderate cellular immune response by the same mechanism.

HT-29 human colon cancer cell proliferation is regulated by cytosolic phospholipase A(2)α dependent PGE(2)via both PKA and PKB pathways.

Cytosolic phospholipase A(2)α (cPLA(2)α) up-regulation has been reported in human colorectal cancer cells, thus we aimed to elucidate its role in the proliferation of the human colorectal cancer cell line, HT-29. EGF caused a rapid activation of cPLA(2)α which coincided with a significant increase in cell proliferation. The inhibition of cPLA(2)α activity by pyrrophenone or by antisense oligonucleotide against cPLA(2)α (AS) or inhibition of prostaglandin E(2) (PGE(2)) production by indomethacin resulted with inhibition of cell proliferation, that was restored by addition of PGE(2).

Regulation of adenosine system at the onset of peritonitis.

Background: Adenosine, a potent regulator of inflammation, is produced under stressful conditions due to degradation of ATP/ADP by the ectoenzymes CD39 and CD73. Adenosine is rapidly degraded by adenosine deaminase (ADA) or phosphorylated in the cell by adenosine kinase (AK). From four known receptors to adenosine, A(1) (A(1)R) promotes inflammation by a G(i)-coupled receptor.

Total oxidant-scavenging capacities of plasma from glycogen storage disease type Ia patients as measured by cyclic voltammetry, FRAP and luminescence techniques.

It has been suggested that the very low incidence of atherosclerosis in glycogen storage disease type Ia (GSD Ia) subjects might be attributed to elevated levels of uric acid, one of the potent low molecular- weight antioxidants found in plasma. The present communication describes a use of two analytical methods-cyclic voltammetry and ferric reducing ability of plasma-and also two chemiluminescence methods to evaluate the total oxidant-scavenging capacities (TOSC) of plasma from GSD Ia patients. Our results verified the elevation of TOSC in GSD Ia patients and we propose the inclusion of luminescence and cyclic voltammetry assays as reliable methods for estimating TOSC in a variety of clinical disorders.

Erythropoietin prevents dialysis fluid-induced apoptosis of mesothelial cells.

Background: In peritoneal dialysis (PD)-treated patients, denudation of the mesothelium correlates with peritoneal fibrosis and vascular changes. Since recombinant human erythropoietin (rHuEPO) induces a range of cytoprotective cellular responses, rHuEPO treatment may reduce PD fluid (PDF)-induced damage.

Methods: To investigate the antiapoptotic effect and mechanism of rHuEPO in peritoneal mesothelial cells (PMCs), isolated mice PMCs were used for in vitro characterization of rHuEPO effects.

Anti-inflammatory preconditioning by agonists of adenosine A1 receptor.

Background: Adenosine levels rise during inflammation and modulate inflammatory responses by engaging with four different G protein-coupled receptors. It is suggested that adenosine exhibits pro-inflammatory effects through its A(1) receptor (A(1)R), and anti-inflammatory effects through A(2A) receptor (A(2A)R). Therefore, understanding of the mechanisms that govern adenosine receptor regulation may advance treatment of various inflammatory disorders.

Testicular expressed genes are missing in familial X-Linked Kallmann syndrome due to two large different deletions in daughter's X chromosomes.

Background: X-linked Kallmann syndrome (KS) is caused mainly by point mutations, in the KAL1 gene. Large deletions >1 Mb are rare events in the human population and commonly result in contiguous gene syndromes.

Methods: A search for the mutation causing KS carried out on two pairs of first-degree cousins of 2 sisters.

Hypoparathyroidism, retardation, and dysmorphism syndrome: impaired early growth and increased susceptibility to severe infections due to hyposplenism and impaired polymorphonuclear cell functions.

Hypoparathyroidism, retardation, and dysmorphism (HRD) syndrome is the first reported disease caused by a defect in the tubulin folding and assembly pathway. We aimed to summarize our experience with a cohort of patients with HRD, analyze their growth, and evaluate patients' polymorphonuclear cell (PMN) functions. The records of 22 HRD patients in a single medical center were reviewed.

Continuous glucose monitoring in children with glycogen storage disease type I.

Glycogen storage disease type I (GSD I) is characterized by impaired production of glucose from glycogenolysis and gluconeogenesis resulting in severe fasting hypoglycaemia. The aim of the present study was to examine the efficacy of a continuous subcutaneous glucose monitoring system (CGMS MiniMed), to determine the magnitude and significance of hypoglycaemia in GSD I and to evaluate the efficacy of its dietary treatment. Four children with GSD I were studied over a 72-h period.

Short-term growth hormone therapy increases serum lipoprotein (a) levels in normal short children without growth hormone deficiency.

We investigated the short-term effect of GH (0.1 IU/kg/day) on serum lipoprotein (a) [Lp(a)] in 8 normal short children aged 6-12 years. GH increased serum Lp(a) concentrations in all the children studied.