Time filter

Source Type

Ymittos Athens, Greece

Malliori M.-M.,National and Kapodistrian University of Athens | Chioti V.,Agia Sofia Childrens Hospital | Konstantopoulou K.,National and Kapodistrian University of Athens
Current Opinion in Psychiatry

Purpose of review: Caregivers play a fundamental role in the lives of mental patients with whom they have an interdependent relationship. The current review provides evidence supporting the association between providing care for a mentally ill person and an often unrecognized burden on the life of the caregiver. Recent findings: Caregivers often sustain a significant physical, emotional, social, and financial stress related to providing care for a loved one with a mental disease. Caregiver-oriented psychoeducational programs and caregiver participation in mutual support groups are among interventions that could assist in relief from this burden. Summary: Further work needs to be done regarding the burden experienced by caregivers who are responsible for mental patients with somatic symptoms. Participation of the caregiver in programs that target this burden should be encouraged. Physicians should take into consideration caregivers' needs and worries and incorporate them in the healing process. © 2010 Wolters Kluwer Health | Lippincott Williams & Wilkins. Source

Alexiou G.A.,Agia Sofia Childrens Hospital
The Journal of craniofacial surgery

Cephaloceles are rare neural tube defects. In this study, we retrospectively reviewed the charts of all patients with cephaloceles who underwent surgical treatment in our institute for a 14-year period, between January 1995 and January 2009. There were 27 children (11 boys and 16 girls; mean age, 7.5 mo; range, 1 d to 7 y). Seventeen encephaloceles were occipital; 5, parietal; 2, ethmoidal; 1, frontoethmoidal; 1, nasoethmoidal; and 1, sphenoethmoidal. The mean size of sac was 3 cm, although 2 cases of giant occipital encephaloceles were observed. In 19 cases (70%), the sac contained gliotic brain (encephaloceles) that was excised. All patients were operated on in 1 surgical procedure. Hydrocephalus was found in 16 patients and treated with a ventriculoperitoneal shunt insertion. Postoperatively, there was no neurologic deficit or death. After a mean follow-up period of 7.2 years (range, 6 mo to 11.5 y), all patients were in good condition. In conclusion, occipital cephaloceles are more frequently encountered and are usually associated with hydrocephalus. Surgery should be performed as early as possible and only after careful preoperative planning especially for the anterior cephaloceles. Source

Loupatatzi A.,Agia Sofia Childrens Hospital | Stavrianos S.D.,Greek Anticancer Institute | Karantonis F.F.,Athens Naval Hospital | Machairas A.,National and Kapodistrian University of Athens | And 3 more authors.
Journal of Oral and Maxillofacial Surgery

Purpose: To investigate gender and other possible factors affecting the frequency and severity of postoperative complications in head and neck cancer free flap reconstruction. Materials and Methods: A prospective longitudinal cohort study was conducted at the Greek Anticancer Institute, St. Savvas Hospital in head and neck cancer free flap reconstruction concerning postoperative complications. We documented the patients' demographic characteristics, social habits, and perioperative factors (ie, duration of general anesthesia), reconstructive techniques, neoadjuvant radiotherapy, and physical status. Initially, univariate statistical analysis was performed to confirm which predictor variables might influence the presence and severity of complications. Next, multivariate statistical analysis was performed using logistical regression and including the factors that were statistically significant on univariate analysis. Results: From 1999 to 2009, we assessed 95 patients who had undergone surgery for head and neck cancer. Of the 95 patients, 24 were women and 71 were men. The patient age range was 20 to 87 years (mean 52, median 55). A total of 55 complications occurred in 49 patients (51.57%). Of the 55 complications, 12 (12.63%) were of major severity, 21 (22.10%) of median severity, and 22 (23.15%) of low severity. The statistical analysis revealed that the factors associated with complications were preoperative radiotherapy, female gender, and operation time. The factors associated with severe complications were female gender and alcohol use. Conclusions: Multivariate analysis of the data revealed that the factor associated with an increased incidence of postoperative complications was preoperative radiotherapy. Moreover, the variable that remained statistically significant and correlated with an increased incidence and severity of free flap reconstruction complications was female gender. Identifying the etiology of these findings is an intriguing field for additional research. © 2014 Published by Elsevier Inc on behalf of the American Association of Oral and Maxillofacial Surgeons. All rights reserved. Source

Schumann H.,Albert Ludwigs University of Freiburg | Schumann H.,Catholic University of Applied Sciences at Freiburg | Kiritsi D.,Albert Ludwigs University of Freiburg | Pigors M.,Albert Ludwigs University of Freiburg | And 10 more authors.
British Journal of Dermatology

Background Integrin α6β4 is a transmembrane receptor and a key component of the hemidesmosome anchoring complex. It is involved in cell-matrix adhesion and signalling in various tissues. Mutations in the ITGA6 and ITGB4 genes coding for α6β4 integrin compromise dermal-epidermal adhesion and are associated with skin blistering and pyloric atresia (PA), a disorder known as epidermolysis bullosa with PA (EB-PA). Objectives To elucidate the molecular pathology of skin fragility in eight cases, disclose the underlying ITGA6 and ITGB4 mutations and study genotype-phenotype correlations. Methods DNA was isolated from ethylenediaminetetraacetic acid-blood samples, and the coding exons and exon-intron boundaries of ITGA6 and ITGB4 were amplified by polymerase chain reaction (PCR), and directly sequenced. Skin samples were submitted to immunofluorescence mapping with antibodies to adhesion proteins of the dermal-epidermal junction. Primary keratinocytes were isolated, and used for RNA and protein extraction, reverse transcription PCR and immunoblotting. Ultrastructural analysis of the skin was performed in one patient. Results We disclose 10 novel mutations, one in ITGA6 and nine in ITGB4. Skin cleavage was either intraepidermal or junctional. Lethal outcome and PA correlated with loss-of-function mutations in two cases. Solely mild skin involvement was associated with deletion of the C-terminus of β4 integrin. Combinations of missense, nonsense or frameshift mutations caused severe urinary tract involvement in addition to skin fragility in five cases. Conclusions The present study reveals novel ITGA6 and ITGB4 gene mutations and supports previous reports showing that the phenotype may lack PA and be limited to skin and nail involvement. In four out of six cases of EB-PA, life expectancy was not impaired. A high frequency of urinary tract involvement was found in this study, and represented the main cause of morbidity. Low levels of β4 integrin expression were compatible with hemidesmosomal integrity and a mild skin phenotype. What's already known about this topic? Epidermolysis bullosa (EB) with pyloric atresia (PA) is a rare EB type caused by mutations in the genes coding for α6β4 integrin or plectin, disrupting the hemidesmosome adhesion complex. A reduced life expectancy is predicted in most cases of EB with PA. α6β4 integrin gene mutations are not always associated with PA. What does this study add? This study identifies 10 novel ITGB4 and ITGA6 mutations causing a spectrum of phenotypes, ranging from mild skin blistering to a lethal multisystem disorder with skin, urinary and gastrointestinal involvement. Urinary tract involvement is relatively common (five out of eight cases in this study). Low levels of α6β4 integrin are sufficient for hemidesmosomal integrity and are associated with a mild skin phenotype. © 2013 The Authors BJD © 2013 British Association of Dermatologists. Source

Kiritsi D.,Albert Ludwigs University of Freiburg | Schauer F.,Albert Ludwigs University of Freiburg | Wolfle U.,Albert Ludwigs University of Freiburg | Valari M.,Agia Sofia Childrens Hospital | And 3 more authors.
Orphanet Journal of Rare Diseases

Background: Inherited ichthyoses or Mendelian disorders of cornification (MeDOC) are clinically heterogeneous disorders with high unmet therapeutic needs, which are characterized by skin hyperkeratosis and scaling. Some MeDOC types are associated with defects of the epidermal lipid metabolism, resulting in perturbed barrier permeability and subsequent epidermal hyperplasia, hyperkeratosis and inflammation. An example is the CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects) syndrome, an X-linked dominant multisystem MeDOC caused by mutations in the NSDHL (NAD(P)H steroid dehydrogenase-like protein) gene, which is involved in the distal cholesterol biosynthetic pathway. The skin manifestations of the CHILD syndrome have been attributed to two major mechanisms: deficiency of cholesterol, probably influencing the proper corneocyte membrane formation, and toxic accumulation of aberrant steroid precursors. Methods. Here we addressed the efficacy of an ointment containing cholesterol and simvastatin, an agent inhibiting endogenous cholesterol synthesis in a compassionate-use treatment of three patients with CHILD syndrome. To test the specificity of this therapeutic approach, we applied the same topical treatment to two patients with other types of MeDOC with disturbed skin lipid metabolism. Results: The therapy with simvastatin and cholesterol was highly effective and well-tolerated by the CHILD syndrome patients; only lesions in the body folds represented a therapeutic challenge. No improvement was noted in the patients with other types of MeDOC. Conclusions: This therapy is inexpensive and accessible to every patient with CHILD syndrome, because both simvastatin and cholesterol are available worldwide. Our data provide initial evidence of the specificity of the therapeutic effect of the simvastatin-cholesterol ointment in CHILD syndrome in comparison to other types of MeDOC. © 2014Kiritsi et al.; licensee BioMed Central Ltd. Source

Discover hidden collaborations