Prenatal sonographic diagnosis of Treacher Collins syndrome: a case and review of the literature

We report the prenatal ultrasonographic diagnosis of a fetus with mandibulofacial dysostosis (Treacher Collins syndrome). Sonographic findings included: polyhydramnios, microcephaly, abnormal fetal facial features (slanting forehead, microphthalmos, micrognathia), and abnormal fetal swallowing. A review of the current literature pertaining to prenatal diagnosis of this condition is presented.     

Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. The TCS gene ( TCOF1 ), which is localized to chromosome 5q32-q33.1, recently has been identified by positional cloning. Analysis of TCOF1 revealed that the majority of TCS mutations result in the creation of a premature termination codon. The function of the predicted protein, treacle, is unknown, although indirect evidence from database analyses suggests that it may function as a shuttling nucleolar phosphoprotein. In the current study, we provide the first direct evidence that treacle is a nucleolar protein. An antibody generated against treacle shows that it localizes to the nucleolus. Fusion proteins tagged to a green fluorescent protein reporter were shown to localize to different compartments of the cell when putative nuclear localization signals were deleted. Parallel experiments using conserved regions of the murine homologue of TCOF1 confirmed these results. Site-directed mutagenesis has been used to recreate mutations observed in individuals with TCS. The resulting truncated proteins are mislocalized within the cell, which further supports the hypothesis that an integral part of treacle's function involves shuttling between the nucleolus and the cytoplasm. TCS is, therefore, the first Mendelian disorder resulting from mutations which lead to aberrant expression of a nucleolar protein.     

TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region

Treacher Collins Syndrome (TCS) is the most common of the human mandibulofacial dysostosis disorders. Recently, a partial TCOF1 cDNA was identified and shown to contain mutations in TCS families. Here we present the entire exon/intron genomic structure and the complete coding sequence of TCOF1. TCOF1 encodes a low complexity protein of 1,411 amino acids, whose predicted protein structure reveals repeated motifs that mirror the organization of its exons. These motifs are shared with nucleolar trafficking proteins in other species and are predicted to be highly phosphorylated by casein kinase. Consistent with this, the full-length TCOF1 protein sequence also contains putative nuclear and nucleolar localization signals. Throughout the open reading frame, we detected an additional eight mutations in TCS families and several polymorphisms. We postulate that TCS results from defects in a nucleolar trafficking protein that is critically required during human craniofacial development.     

Transplantation of the islands of Langerhans: evaluation and perspectives

Islets of Langerhans transplantation was studied in four groups of dogs (autotransplantation after immediate or delayed total pancreatectomy; allotransplantation with immediate total pancreatectomy or 4 days after total pancreatectomy). It is concluded: 1. that it is unnecessary to separate endocrine from exocrine pancreatic elements; 2. that a moderate hyperglycemia for a few days after transplantation is required for ultimate survival and function of transplanted material; 3. that further experimental work has to be done before allotransplantation can be safely performed in man.     

Incisal edge reattachment: literature review and treatment perspectives

Anterior crown fractures in children and adolescents are a common form of injury, affecting approximately 25% of that population. Common restorative treatments such as composite bonding, laminate veneers, or full-coverage restorations tend to sacrifice healthy tooth structure and challenge dentists to match the adjacent unrestored dentition. Incisal edge fragment reattachment, including the use of current bonding techniques, is a restorative treatment option that offers the advantages of simplicity, immediate esthetics, and conservatism in cases of dental trauma. This article presents a comprehensive literature review on this restorative technique. It also provides diagnostic and treatment algorithms to simplify and clarify the recommended diagnostic and clinical regimens.     

The Capgras syndrome: Neurological/neuropsychological perspectives.

Discusses the Capgras syndrome, a disorder in which the patient believes that a close friend, relative, or other person is not the real person but an exact look-alike or impostor. References in the literature are reviewed regarding a neurological/neuropsychological cause of the disorder. The focus is shifted from a psychodynamic approach to a wider perspective, conceptualizing the syndrome as a disorder of the central nervous system (CNS). The importance of considering neurology and neuropsychology in proper diagnosis and treatment is highlighted. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Obesity: evaluation and treatment

Obesity as a chronic condition among large numbers of people is a disease of recent origin, often but by no means always associated with dietary habits and sedentary lifestyle. Many obese people want to lose weight, and may have tried to do so numerous times with self-help or proprietary weight-loss programs. When they seek a physician for help in losing weight-or when a physician advises an obese patient to lose weight as part of a clinical strategy-care must be taken to "match" the patient to an appropriate therapeutic program with appropriate therapeutic goals. History and physical examination and psychologic evaluation are essential elements of patient screening. Complications of obesity must be taken into account in any treatment plan. The multidisciplinary management strategy is most likely to succeed in helping the patient lose weight. It also avoids untoward events associated with complications or concomitant disease. The multidisciplinary approach is especially important when the patient does not lose weight, and alternative strategies must be considered, such as surgical approaches.     

Pharmacological treatment of Alzheimer's disease: present situation and perspectives

Alzheimer's disease (AD) is the commonest cause of dementia. Although its ethology is unknown, there is increasing evidence in support of the view that an abnormal degradation of the amyloid precursor protein (APP), perhaps influenced by a number of genetic, tisular or environmental factors, may be the primary cause of the many biochemical and morphological disorders that exist in the associative areas of the brain of these patients. Histopathologically it can be shown by the presence of extracellular senile plaques, intraneuronal fibrilar tangles and neuronal loss. There is no specific pharmacological treatment at present to prevent the disease or its development, in spite of the numerous and diverse drugs studied. Many of these studies are methodologically inadequate. The attempt of activating the cholinergic system has deserved special attention. A reversible inhibitor of acetylcholinesterase, tacrine, has been approved in the United States and other countries for the symptomatic treatment of mild to moderate AD, but its use still arises many questions. Different drug and non drug related interventions may be of great value in the care of these patients, and may influence the specific pharmacological treatments. The complexity and heterogeneity of AD and the multiple factors which may take part in its evolution make it necessary to place special attention on the methodological aspects of the clinical trials with new drugs for the treatment of this disease.     

Nutritional supplements in the treatment of pressure ulcers: practical perspectives

A case of Hodgkin's disease with local involvement of the submandibular area is described. Profound examinations found that the tumor did not originate from the salivary gland. Anatomic examination of the resected tumor revealed Hodgkin's diseases. The authors emphasize the necessity of differential diagnosis between Hodgkin's disease and chronic sialadenitis.     

Pain syndrome in gastroenterological practice: potentialities of evaluation

Qualitative and quantitative characteristics of chronic pain syndrome and their possible use in assessing analgetic effects of treatment were studied in 16, 49, 26 and 17 patients with gastric ulcer, duodenal ulcer, chronic pancreatitis, chronic colitis, respectively. Pain was measured with the use of McHill's questionnaire modification and visual-verbal-analog scale. In addition to routine analysis of the data from the respondents, graphic mean profiles of pain for each group have been devised. There were differences in quantitative parameters of pain syndrome depending on nosological unity and profiles of patients. The questionnaire proved rather informative in evaluation and gradation of analgetic effects of therapeutic factors in ulcer patients.     

Reye's syndrome: clinical progression and evaluation of therapy

The hospital course and therapy of 369 patients with Reye's syndrome were evaluated. Eighty-three percent of patients had deepening coma during hospitalization. Stage of coma on admission, evidence of increased intracranial pressure, and blood ammonia levels greater than 300 microgram/100 ml were all significantly associated with increasing mortality. Among survivors of Reye's syndrome, 30% of those who developed either decerebrate posturing or seizures during hospitalization had serious neurologic sequelae upon discharge. When analyzed by (1) stage of coma during admission (2) progression of coma during hospitalization, (3) degree of blood ammonia level elevation, and (4) presence of increased intracranial pressuring, no significant differences were noted between patients receiving intensive supportive care and those receiving exchange transfusions and/or peritoneal dialysis.     

Premenstrual syndrome: diagnosis and treatment experiences

We sought to examine the diagnosis and treatment experiences of women in the United States who reported having been diagnosed with premenstrual syndrome (PMS) by a physician. A survey of 220 women, randomly selected, ages 26-56, who subscribed to a woman's health newsletter and reported being given a diagnosis of PMS by a physician was conducted. Subjects reported (1) they sought medical help for 5.33 +/- 6.23 years before receiving a diagnosis, (2) they sought help from 3.75 +/- 3.22 physicians for PMS symptoms, (3) they thought the majority (71%) of physicians they used were not adequately informed to diagnose and treat them, (4) only a minority (23%) of physicians used a symptom chart, currently the only way to confirm a PMS diagnosis, when determining their diagnosis, and (5) only approximately 1 in 4 (26%) physicians provided them with a helpful treatment. Seventy-six percent of subjects reported that a PMS diagnosis resulted from their own suggestion, with an agreement by the physician. Eighty-one percent reported that the initial suggestion of PMS came from a non-medical source. The most commonly recommended and used treatments were vitamins, exercise, and diet modification. Current treatment satisfaction was 15.6% not very satisfied, 48.8% somewhat satisfied, and 35% very satisfied. Satisfaction was higher if natural progesterone or hysterectomy with oophorectomy was included as a treatment, although a high percentage of satisfaction was seen with several treatments. Data indicate that physicians from whom most of the women sought care between 1974 and 1994 failed to recognize, diagnose, or treat their PMS using the standards and protocols published in the medical literature.     

Electroencephalographic evaluation in Sturge-Weber syndrome

The most consistent electroencephalographic finding in 16 cases of Sturge-Weber syndrome was a unilateral reduction of background amplitude in the waking record. Comparable asymmetries were noted in those patients in whom sleep recording also was done. Physiologic responses (to hyperventilation and photic driving) usually were decreased on the involved side. These hemispheric electroencephalographic abnormalities are detectable in infancy even before the characteristic intracranial calification develops. Epileptiform activity, when focal, was limited to the involved hemisphere.     

The treatment of conduct disorder: perspectives from across Canada

OBJECTIVE: To provide a synopsis of treatment programs for conduct-disordered children in Canada. METHOD: Five groups of authors from British Columbia, Ontario, Quebec, and New Brunswick describe their approaches to the treatment of children with conduct disorder. RESULTS: All programs emphasize the needs to use multimodal treatment schemes, including day and short-term residential care, and to base programs on identified factors associated with the development of conduct disorder. CONCLUSION: Specific forms of treatment of conduct disorder are promising but are often hampered by social and political agendas.     

An evaluation of consumer perspectives of childbirth and parenting education

As part of a study of childbirth and parenting education in the Australian Capital Territory (O'Meara, 1993a; 1993b) an evaluation of clients' views of the service was undertaken. The evaluation sought to identify indicators of effectiveness and needs. Two independent groups (current and past users, n = 207) were surveyed using an original questionnaire based on predisposing, reinforcing and enabling factors for human behaviour (Green's PRECEDE model). The data were compared and analysed using the related t-test for indicative differences in perceptions of the two groups. Indicative differences that were statistically significant were compared on variables representing users' age, parity and preferred mode of childbirth education (public or private). No evidence was found of significant differences in attitudes, beliefs and values before and after birth attributable to childbirth education. However, the health skills, confidence and emotional preparation for the birth, and the extent of participation in the learning process did not fully measure up to users' expectations. Consumers expect professionalism in the provision of services, with course content specifically tailored to their learning needs, taking into account age and previous experience of childbirth. A comprehensive curriculum is suggested covering all stages of the childbirth process from prepregnancy to parenting.     

Experimenter demands in the balanced-placebo design: Reply to Collins and Searles.

Collins and Searles (1988) criticize our article (Knight, Barbaree, & Boland, 1986) examining the role of experimenter demands in the expectancy effect in the balanced-placebo design both on conceptual and methodological grounds. Our findings indicated that when our subjects were relieved of the demand to report an estimate of the amount drunk consistent with the experimenter's instructions, subjects' estimates were more in line with their actual drink content. On the basis of our findings, and the similarity of our study to earlier studies using the balanced-placebo design, we wonder whether subjects in earlier studies did not suspect a deception in their experimenter's instructions but reported estimate consistent with instruction so that they would not "ruin" the experiment. The comments of Collins and Searles are thought provoking and caution against overgeneralizing our results. Nevertheless, our findings at least raise the possibility of a demand confound in balanced-placebo studies, and this deserves further empirical exploration and consideration. (PsycINFO Database Record (c) 2010 APA, all rights reserved)