[The Cri du Chat syndrome: a study on the quality of care].

Aim: The Cri du Chat syndrome (SCdC / [OMIM #123450]) is a rare disease characterized by the deletion of the short arm of chromosome 5. The typical clinical features are the cat-like cry, microcephaly, a distinct facial phenotype and a severe psychomotor and mental retardation. The aim of this study was to provide an analysis on the data concerning the life quality and families assistance to whom have a child affected by Cri du Chat syndrome such as: the life's change of parents after the child's birth, the frequency of treatments, the collaboration between family and center of reference.

[Evaluation of the varus-valgus knee in a group of calabrian children].

Introduction: In the early years of life, the angular deviation of knee causes anxiety in parents and alert to paediatricians. The problem is often an expression of physiological development of the lower limbs and correction occurs spontaneously. A small number of children has a true pathology, which can lead to functional problems, modification of the knee's axis and muscular-skeletal disorders.

Test of variables of attention (TOVA) as a predictor of early attention complaints, an antecedent to dementia.

The goal of this study was to determine if impairments detected by the test of variables of attention (TOVA) may be used to predict early attention complaints and memory impairments accurately in a clinical setting. We performed a statistical analysis of outcomes in a patient population screened for attention deficit hyperactivity disorder or attention complaints, processing errors as measured by TOVA and the Wechsler Memory Scale (WMS-III) results. Attention deficit disorder (ADD) checklists, constructed using the Diagnostic and Statistical Manual of Mental Disorders 4th Edition criteria, which were completed by patients at PATH Medical, revealed that 72.

Age-related increases in parathyroid hormone may be antecedent to both osteoporosis and dementia.

Background: Numerous studies have reported that age-induced increased parathyroid hormone plasma levels are associated with cognitive decline and dementia. Little is known about the correlation that may exist between neurological processing speed, cognition and bone density in cases of hyperparathyroidism. Thus, we decided to determine if parathyroid hormone levels correlate to processing speed and/or bone density.

Extramedullary haematopoiesis in beta thalassaemia--unusual presentations: case reports.

Extramedullary haematopoiesis (EH) refers to the production of blood cells outside the bone marrow as a compensatory mechanism for bone marrow dysfunction. It occurs in conditions with hyperactive, depleted or infiltrated marrow. The most frequent cause of EH is thalassaemia intermedia, due to increased demand on the hematopoietic system from anemia not reduced by transfusion therapy.

Attention-deficit-hyperactivity disorder and reward deficiency syndrome.

Molecular genetic studies have identified several genes that may mediate susceptibility to attention deficit hyperactivity disorder (ADHD). A consensus of the literature suggests that when there is a dysfunction in the "brain reward cascade," especially in the dopamine system, causing a low or hypo-dopaminergic trait, the brain may require dopamine for individuals to avoid unpleasant feelings. This high-risk genetic trait leads to multiple drug-seeking behaviors, because the drugs activate release of dopamine, which can diminish abnormal cravings.

LG839: anti-obesity effects and polymorphic gene correlates of reward deficiency syndrome.

Introduction: This study systematically assessed the weight management effects of a novel experimental DNA-customized nutraceutical, LG839 (LifeGen, Inc., La Jolla, CA, USA).

Methods: A total of 1058 subjects who participated in the overall D.

The H-Wave device is an effective and safe non-pharmacological analgesic for chronic pain: a meta-analysis.

Introduction: This meta-analysis was conducted to systematically review the efficacy and safety of the H-Wave (Electronic Waveform Lab, Inc, Huntington Beach, CA, USA) device and programme as a non-pharmacological analgesic treatment in chronic soft tissue inflammation and neuropathic pain.

Methods: Five studies related to pain relief, reduction in pain medication and increased functionality obtained with the H-Wave device were included in the analysis. Data were analysed using the random effects model, including adjustment to evaluate variability, size of study and bias in effect size.

Plasma growth hormones, P300 event-related potential and test of variables of attention (TOVA) are important neuroendocrinological predictors of early cognitive decline in a clinical setting: evidence supported by structural equation modeling (SEM) parameter estimates.

A review of the literature in both animals and humans reveals that changes in sex hormone have often been associated with changes in behavioral and mental abilities. Previously published research from our laboratory, and others, provides strong evidence that P300 (latency) event-related potential (ERP), a marker of neuronal processing speed, is an accurate predictor of early memory impairment in both males and females across a wide age range. It is our hypothesis, given the vast literature on the subject, that coupling growth hormones (insulin-like growth factor-I, (IGF-I) and insulin-like growth factor binding protein 3 (IGF-BP3)), P300 event-related potential and test of variables of attention (TOVA) are important neuroendocrinological predictors of early cognitive decline in a clinical setting.

Gene \Narcotic Attenuation Program attenuates substance use disorder, a clinical subtype of reward deficiency syndrome.

This study evaluated the effects of a putative activator of brain reward circuitry on outcomes in a 1-y prospective comprehensive outpatient clinical program. As part of the Gene Narcotic Attenuation Program, Haveos (Synaptamine)(TM) was administered for the treatment of substance use disorder. Seventy-six patients (45 males and 31 females; mean age, 33 y [standard deviation, 7.

Manipulation of catechol-O-methyl-transferase (COMT) activity to influence the attenuation of substance seeking behavior, a subtype of Reward Deficiency Syndrome (RDS), is dependent upon gene polymorphisms: a hypothesis.

There are common genetic mechanisms responsible for both drug effects and subsequent seeking behavior. In 1996, we coined the term Reward Deficiency Syndrome (RDS). Past and current treatment of substance seeking behavior, a subtype of Reward Deficiency Syndrome (RDS), is considered by most to be inadequate.

Reward deficiency syndrome in obesity: a preliminary cross-sectional trial with a Genotrim variant.

Obesity is the second largest preventable cause of death in the United States. Even though it was classified as a disease in 1985, traditionally, obesity has been treated primarily as a behavioral problem that requires only modifications in diet and exercise. Similar to research on obesity, clinical studies have elucidated the role of biologic and genetic factors in alcoholism and other conditions previously classified as behavioral.

Genotrim, a DNA-customized nutrigenomic product, targets genetic factors of obesity: hypothesizing a dopamine-glucose correlation demonstrating reward deficiency syndrome (RDS).

Obesity is the second largest cause of preventable death in the United States. Historically, obesity was considered a behavioral problem that could be simply addressed with behavioral modifications in diet and exercise. As scientific advancements have demonstrated in other neurological healthcare conditions such as alcoholism, there are important biological and genetic components that limit the efficacy of behavioral adjustments alone.

Delayed P300 latency correlates with abnormal Test of Variables of Attention (TOVA) in adults and predicts early cognitive decline in a clinical setting.

Delayed P300 latency identifies dementia better than the Mini-Mental Status Exam and, in some cases, the Wechsler Memory Scale (WMS-III). The purpose of this study was to determine whether the outcome of an objective Test of Variables of Attention (TOVA) correlates with the findings of an electrophysiologic test-P300 latency-in patients 40 y of age or older. Adult attention deficit disorder may be an important premorbid marker of memory dysfunction or dementia.

A simple new technique to prevent bleeding in transplant nephrectomy.

Renal transplantectomy is still a frequent procedure for a transplant surgeon. Nevertheless, it is constantly marred by complications, first of all bleeding. In fact, the local circumstances after the operation and the general health state of the uremic patients lead to a high incidence of this complication.

Incidence of cancer after kidney transplant: results from the North Italy transplant program.

Background: Patients undergoing kidney transplantation demonstrate a higher risk of developing cancer as the result of immunosuppressive treatment and concurrent infections.

Methods: The incidence of cancer in a cohort of patients who underwent kidney transplantation between 1990 and 2000, and who survived the acute phase (10 days), was analyzed as part of the North Italy Transplant program.

Results: A total of 3,521 patients underwent transplantation during a 10-year period in 10 of 13 participating centers; the length of follow-up after kidney transplant was 67.

Growth and puberty in thalassemia major.

Present transfusional regimen protocols increase the life expectancy of patients with beta-thalassemia major, but cause a progressive iron overload that can be prevented or limited only by appropriate iron chelation. Siderosis is responsible for the clinical complications of the disease. Short stature and hypogonadism are extremely frequent in patients with thalassemia.

[Chest pain in adolescents].

In children and in adolescents, chest pain is relatively common and self-limiting. The close association between chest pain, cardiopathies and sudden death is the cause of intense anxiety in boys and their parents and even doctors. The most frequent causes of chest pain, the diagnosis and the eventual treatment are examined.

[Thoracic imaging in adolescence: news and perspectives].

Technological advances modified actual trends in pediatric imaging. Up 25 years ago thoracic X-ray was the only resource in pediatric radiology. The introduction of CT, digital radiography, sonography and magnetic resonance and then of psitron emission tomography, led to a new dimension in thoracic pediatric imaging.

Vesico-ureteral reflux in pediatric kidney transplants: clinical relevance to graft and patient outcome.

From June 1985 to December 1998, 173 pediatric renal transplants were carried out in 170 patients at our center. From this pool, 73 patients (34 males and 39 females) with a follow-up of 48 months were examined. In all patients, ureteroneocystostomy was performed according to the Lich-Grégoire procedure.

[Retrorectal hamartomatous cysts or "tail gut syndrome": a case report and review of the literature].

Retrorectal cyst hamartomas or so called tail gut syndrome are dystopic lesions, rarely reported in Literature, characterized by the presence of cysts lined by mucous-producing ciliated epithelium. The Authors report a case, recently observed and surgically treated, in a 55 year old male, hospitalized because of an abscess and fistula in the right buttock diagnosed to be a cyst hamartoma. The Literature is reviewed as well.

[Abdominal tuberculous lymphadenitis simulating pancreatis cancer].

The Authors report the case of a patient symptomatic for fever, weight loss and abdominal pain submitted to abdominal sonography and CT which identified a mass of the pancreatic head. The patient underwent laparotomy plus biopsy; the istologic and bacteriological diagnosis demonstrated a tuberculous lymphoadenitis in spite of a normal cutaneous tuberculin test. Abdominal localization of TBC infection therefore is increasing in epidemiological studies, and thus it must be included in the differential diagnosis of subdiaphragmatic disease.

[Vascular bench surgery in renal transplant].

The development in the number of patients for renal transplants has not been matched to the kidneys supplied. On this subject the authors think that this chronic deficit could be improved by making use of all the organs by using a series of technical means during bench surgery; which enable optimisation of use of kidneys with vascular abnormalities or those injured upon removal. The authors report their experience of 450 renal transplants operated between January 1981 and December 1985 and of the evolution vascular bench surgical techniques which enable use of a considerable number of kidneys which would otherwise have been discarded.