Physiotherapy and rehabilitation applications in lipedema management: A literature review.

Lipedema is a chronic and progressive disease of adipose tissue caused by abnormal fat accumulation in subcutaneous tissue. Although there is no known cure for lipedema, possible complications can be prevented with conservative and surgical treatments. One of the conservative treatment options is physiotherapy and rehabilitation (PR). When the literature is examined, few studies focusing on the efficacy of PR were found for this patient group. The purpose of this review is to provide a better understanding of the effectiveness of PR applications by compiling existing studies. A bibliographic PubMed search was performed for published studies regarding PR in lipedema management in June 2019 including the last 58 years (1951-2019). Articles were chosen by reading the abstracts and subsequently data were analyzed by reading the entire text through full-text resources. A total of 15 studies met inclusion criteria. Results document how lipedema patients are benefited by PR and the effectiveness of different types of PR programs. The current review also showed that complex decongestive physiotherapy, gait training, hydrotherapy, aerobic exercise, and resistance exercise training each have value in the management of lipedema. The effects of PR for the treatment of lipedema are variable among studies, although overall PR seems to be effective in lipedema management. Although physiotherapy applications have a potentially important role in the management of lipedema, they should be used in combination with other treatment modalities. More studies with higher quality are needed to fully demonstrate the effect and efficacy of PR in lipedema patients.

[Fluorescence in situ hybridization in 6 patients with alterations of chromosome 18 and in 7 with marker chromosomes]. / Hibridación in situ con fluorescencia en seis pacientes con alteraciones del cromosoma 18 y en siete con cromosomas marcadores.

The purpose of the present study was to use the FISH method to establish the origin of chromosome aberrations currently unidentifiable by routine banding procedures. It was done in 13 cases with structurally rearranged chromosomes, seven of them with non-satellited marker chromosomes; in two of the latter an isochromosome 18p was identified which was consistent with a clinical picture of a tetrasomy 18p. FISH with chromosome-specific painting probes showed a deletion 18q in a girl with a cytogenetically balanced t(8;18). Two patients with deletions and two with 18 ring chromosomes were studied using a telomeric probe: both deletions had telomeric integrity and telomeric material was not present in the 18 rings. In a patient with an abnormal chromosome 18, the FISH analysis confirmed a pericentric inversion. We conclude from these results that FISH can provide a rapid and unequivocal cytogenetic diagnosis, which may improve genetic counseling.

Tetrasomy 18p in two cases confirmation by in situ hybridization.

Two cases with an extra small metacentric chromosome are described. Classic cytogenetic analysis was insufficient for identification of the marker origin. High resolution banding and fluorescence in situ hybridization (FISH) using a chromosome specific painting probe indicated that both marker chromosomes originated from chromosome 18. The correlation between phenotype, cytogenetics and FISH results allowed us to conclude that the patients are tetrasomic for 18p. A comparison of the clinical features of our two patients with other twelve previously reported patients where tetrasomy 18p was confirmed, is also presented.

Mu opioid receptor gene as a candidate for the study of obsessive compulsive disorder with and without tics.

Obsessive compulsive disorder (OCD) is a complex psychiatric disease characterized by recurring obsessions or compulsions that cause significant distress to the patient. The etiology of this disorder remains largely unknown, although a genetic component has been suggested. Many candidates genes have been evaluated based on a possible serotoninergic and dopaminergic brain dysfunction. We postulate the micro opioid receptor (MOR) gene as a candidate because some observations support a role of the opioid system in OCD. The opioid antagonist, naloxone, rapidly exacerbates OCD symptoms and the opioid agonist, tramadol, was reported to be effective in the treatment of some patients. We studied two single nucleotide polymorphisms (C17T and A118G) in 51 trios with OCD. Genotyping was analyzed with transmission desequilibrium test (TDT). The allelic variant +17T of the C17T polymorphism had a low frequency (1%) in our population that did not allow for statistic analysis. However, for the allelic variant +G of the A118G polymorphism we were able to performed statistical comparisons. Our results showed a trend toward significance (chi(2) McNemar = 3.6, P = 0.065) for TDT in patients with comorbid tics. It is an interesting finding that should be tested in a larger sample of OCD patients with tics.

Cloverleaf skull and multiple congenital anomalies in a girl exposed to cocaine in utero: case report and review of the literature.

The case of a girl with cloverleaf skull (CLS) and multiple congenital anomalies is reported. Both parents have a history of drug use. Maternal cocaine abuse during the first trimester of pregnancy was obvious, and other drugs, such as marihuana and alcohol, were also taken by the mother. Many central nervous system malformations have been reported in association with cocaine abuse, the most severe being midline defects and neural tube defects. To our knowledge this is the first case reported of CLS anomaly associated with drug exposure. We also describe other anomalies not previously reported in association with CLS.