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Biomedical subjects

David Cohen

Publications and source records attributed to David Cohen.

At least 37 records · Page 2Linked to original sources

Clinical relevance of chronic catatonic schizophrenia in children and adolescents: evidence from a prospective naturalistic study.

The paper examines the phenomenology, diagnosis, and course of catatonia in children and adolescents. From 1993 to 2003, 21 boys and 9 girls, aged 12 to 18 years, were admitted for a catatonic syndrome (0.6% of the total inpatient population). Phenomenology and associated diagnoses were similar to those reported in the adult literature but relative frequency differed, with schizophrenia being the most frequent diagnosis. Comparison of patients with schizophrenia (n=17) to those with other diagnoses (n=13) showed that the two groups differed in terms of sex ratio, type of onset and phenomenology of catatonic symptoms, duration of hospitalization, and severity at discharge. Using discriminant function analysis, the combination of three clinical variables--male gender, duration of catatonic episode, and severity at discharge--correctly classified 100% of cases in the schizophrenia group. Catatonia is an infrequent but severe condition in young people, and is usually associated with schizophrenia. There is a need for research in the field of catatonic schizophrenia in adolescents as it appears to be a clinically relevant but understudied subgroup.

Adolescent↗

Specific genetic disorders and autism: clinical contribution towards their identification.

Autism is a heterogeneous disorder that can reveal a specific genetic disease. This paper describes several genetic diseases consistently associated with autism (fragile X, tuberous sclerosis, Angelman syndrome, duplication of 15q11-q13, Down syndrome, San Filippo syndrome, MECP2 related disorders, phenylketonuria, Smith-Magenis syndrome, 22q13 deletion, adenylosuccinate lyase deficiency, Cohen syndrome, and Smith-Lemli-Opitz syndrome) and proposes a consensual and economic diagnostic strategy to help practitioners to identify them. A rigorous initial clinical screening is presented to avoid unnecessary laboratory and imaging studies. Regarding psychiatric nosography, the concept of "syndromal autism"--autism associated with other clinical signs should be promoted because it may help to distinguish patients who warrant a multidisciplinary approach and further investigation.

Autistic Disorder↗

Molecular genetics of familial renal cell carcinoma syndromes.

RCC represents a group of clinically and genetically diverse diseases. Familial RCC syndromes, although rare, provide an invaluable model to study the molecular mechanisms of renal carcinogenesis. Many causative oncogenes and tumor suppressor genes have been identified and it is now possible to identify the affected individuals and carriers by genetic testing. Understanding of the molecular pathways of these genes will have a significant impact on the diagnosis and treatment of familial and sporadic RCC.

Carcinoma, Papillary↗

Cognitive control in childhood-onset obsessive-compulsive disorder: a functional MRI study.

BACKGROUND: Failure to resist chronic obsessive-compulsive symptoms may denote an altered state of cognitive control. We searched for the cerebral regions engaged in this dysfunction. METHOD: Differences in brain regional activity were examined by event-related functional magnetic regional imaging (fMRI) in a group of adolescents or young adults (n = 12) with childhood-onset obsessive-compulsive disorder (OCD), relative to healthy subjects. Subjects performed a conflict task involving the presentation of two consecutive and possibly conflicting prime and target numbers. Patients' image dataset was further analysed according to resistance or non-resistance to symptoms during the scans. RESULTS: Using volume correction based on a priori hypotheses, an exploratory analysis revealed that, within the prime-target repetition condition, the OCD subjects activated more than healthy subjects a subregion of the anterior cingulate gyrus and the left parietal lobe. Furthermore, compared with 'resistant' patients, the 'non-resistant' OCD subjects activated a bilateral network including the precuneus, pulvinar and paracentral lobules. CONCLUSIONS: Higher regional activations suggest an abnormal amplification process in OCD subjects during the discrimination of repetitive visual stimuli. The regional distribution of functional changes may vary with the patients' ability to resist obsessions.

Adult↗

Can electronic routine data act as a surrogate for patient-assessed outcome measures?

OBJECTIVES: There has been a rapid growth in the use of patient-assessed outcomes (PAOs) that are measured in the assessment of health technologies. The process of collection of such measures can be costly, and there may be problems associated with the ability of the patient to complete them. The use of electronically stored routine data may reduce costs and overcome the problems associated with patient completion. The feasibility of using routine data surrogates for the UK Inflammatory Bowel Disease Questionnaire (UKIBDQ) and the Short Form 36 (SF-36) was examined. METHODS: Clinical terms and codes for the UKIBDQ and SF-36 questions were identified, and data from electronic routine sources were sought on patients participating in a randomized controlled trial. The presence or absence of relevant symptoms was used to generate surrogate scores, which were compared with the original scores. RESULTS: Most questions in the UKIBDQ and SF-36 were codable but only one third of the terms were recorded routinely in electronic form. The surrogate total IBDQ score had reasonable reliability (Kuder-Richardson coefficient = 0.51), but this reliability could not be determined for the SF-36. Intraclass correlations between routine and designed data were poor to weak. CONCLUSIONS: Although electronic routine data sources had the capacity to develop surrogate measures for patient assessed outcomes, there was evidence of wide underutilization of coding systems leading to an underreporting of symptoms. This finding is consistent with previous literature where only poor correlations were illustrated between patient assessed outcomes and surrogate scoring of symptoms.

Data Collection↗

Cotard's syndrome in adolescents and young adults: a possible onset of bipolar disorder requiring a mood stabilizer?

This paper reviews all reports of Cotard's syndrome (délire de négation) in adolescents and young adults and summarizes four consecutive cases seen at our institution during the past 10 years. Cotard's syndrome occurs infrequently in young people (19 cases have been reported so far, including a 15-year-old boy who died at hospital) but appears to be a severe syndrome in adolescents of both genders. Ten patients received electroconvulsive therapy (ECT) despite their young age. Among the 14 cases reported with at least a 2-year follow-up, 13 patients (93%; 11 female) exhibited a bipolar outcome. The use of mood stabilizers should be considered in this rare, but potentially severe, condition.

Adolescent↗

Rethinking models of psychotropic drug action.

Theoretical assumptions about how psychotropic drugs 'work' are rarely discussed explicitly. In a 'disease-centred model,' drugs are believed to work by acting on a disease process. In contrast, in a 'drug-centred model,' the characteristic physiological, behavioural and subjective effects of drugs are used to define drug action. The therapeutic value of a drug stems from the usefulness of these effects in clinical situations. The disease-centred model appears dominant but has weaknesses: (1) it cannot logically justify the use of drugs since major pathophysiological hypotheses were derived from selectively observed actions of drugs; (2) comparisons between drugs believed to have specific effects in certain conditions and drugs thought to have non-specific effects fail to support it; (3) outcome measures for various disorders include items responsive to non-specific drug effects; (4) studies with healthy volunteers describe characteristic drug-induced states independently of a psychiatric diagnosis; (5) animal tests show effects with agents not usually thought of as specific treatments for the conditions modelled by tests. This article offers suggestions to develop a drug-centred model and discusses its potential impact on clinical practice.

Humans↗

Treatment of a suicide attempt through psychodynamic therapy in a 17-year-old boy with depression: a case study.

We report the case of a 17-year-old boy hospitalized after a violent and dramatic suicide attempt and the interpretative therapy that helped him overcome his depression. His course appeared to be typical of the difficulties encountered by clinicians when in charge of a severely depressed teenager, and of the liability of therapeutic treatment as the patient failed to improve with two consecutive antidepressant trials, and with a first attempted treatment by psychodynamic therapy. The present report stresses that: (i) in some cases, prolonged hospitalization might be helpful in managing treatment of acute phases; (ii) every effort should be made to help a depressed adolescent who attempts suicide to verbalize his experiences and give them meaning, whatever the psychotherapeutic technique. In the case of a suicide attempt with a staged component, the psychodynamic approach appears to be an interesting option as it may help the patient understand his pathological behavior as if it were a dream.

Adolescent↗

Standardized computed tomographic imaging and dimensions of the round-window niche.

Both the increasing usage of intratympanic medication to the inner ear through the round window and the popularity of cochlear implantation have raised interest in the anatomy of the round-window niche (RWN). The objectives of this study were to measure the RWN and to standardize a computed tomographic projection for measuring it. We included patients of all ages who underwent computed tomography for various reasons. We measured computed tomographic images acquired from 214 patients aged 4-85 years and included 414 ears and excluded 14 inflamed "wet" ears. We measured depth, width, and shape of the RWN and skull width. The RWN dimensions did not change with age, whereas the skull width increased with age in both genders throughout the patients' entire life. Folds and soft tissue could not be demonstrated in computed tomographic imaging. In conclusion, a special oblique projection that clearly demonstrates the RWN was reconstructed, and this reconstruction allows for standardized measuring.

Adolescent↗

[Psychological distress and psychotropic drugs as perceived by elderly women and their aides during loss of autonomy: qualitative and quantitative perspective].

Using qualitative data and quantitative measures of psychological distress, this research examines attitudes towards psychotropic drug use among 14 home care recipients and their caregivers. It relates these attitudes to the type of family support provided and the women's level of mental health (both self-reported and attributed to the aged drug user by the caregiver). Four categorical themes--"it's a habit", "it's useful and under control", "it keeps her under control", and "what drug use?"--describe the types of attitudes of caregivers towards psychotropic drug use by the elderly women they care for. These themes are associated with the level of congruence between self-reported and caregiver-ascribed scores of mental health. The results, although exploratory, indicate that a large divergence between self-reported and caregiver-ascribed scores of psychological distress was associated with caregivers' attitudes of indifference or resignation towards drug use. The drug is perceived as necessary not only by the user but also by the overworked caregiver, who sees it as a way of lightening her burden. From a clinical perspective, our findings indicate that the influence of caregivers needs to be taken into account in any effort to reduce or stop chronic psychotropic drug use by elderly users.

Adult↗

Cowden's syndrome.

A 59-year-old woman initially presented with facial papules, which were consistent with trichilemmomas on histopathologic examination. Her course was complicated by breast, endometrial, and renal-cell carcinomas, as well as a multinodular goiter that necessitated a thyroidectomy. Cowden's syndrome is a rare autosomal dominant syndrome that is characterized by hamartomas of ectodermal, mesodermal, and endodermal origin as well as an increased risk of breast, thyroid, and endometrial neoplasias. Medical management includes screening for breast cancer and thyroid abnormalities, and performing other age-specific examinations. Treatment of facial papules includes topical 5-fluorouracil, isotretinoin, curettage, laser ablation, or surgical excision.

Female↗

Axillary granular parakeratosis.

A 71-year-old man developed a pruritic axillary eruption. Histopathologic examination showed laminated orthokeratosis, parakeratosis, and hypergranulosis. There changes were consistent with a diagnosis of axillary granular parakeratosis. Axillary granular parakeratosis is an intertriginous eruption that is usually found in the axillae of middle-aged women and is characterized clinically by pruritic, erythematous, hyperkeratotic plaques and histologically by parakeratosis with retention of keratohyaline granules. Pathophysiology is thought to involve a defective profilaggrin-filaggrin pathway. Evidence-based treatment of this disorder is not available.

Aged↗

Elderly people's services. Home truths.

--A study assessed whether more older people would avoid institutional care if current home care technologies were utilised fully. --A number of people were found to benefit from different technology bundles and at a lower cost than institutional care. --For this approach to succeed, high application of comprehensive geriatric assessment would be needed.

Aged↗

Par-1 promotes a hepatic mode of apical protein trafficking in MDCK cells.

Simple (i.e., nonstratified) epithelial cells use two different routes to target their newly synthesized luminal plasma membrane proteins to the cell surface: a direct route from the Golgi complex, as in the kidney-derived MDCK cell line, or an indirect route that involves a intermediate stop at the ab-luminal (basolateral) membrane, as in hepatocytes. The mechanisms or proteins responsible for these different protein targeting strategies are not known. Here, we show that increased expression of EMK1, a mammalian ortholog of Caenorhabditis elegans Par-1, in MDCK cells promotes a switch from a direct to a transcytotic mode of apical protein delivery and other trafficking changes typical of hepatocytes. These results, together with our recent demonstration that PAR-1 promotes morphological features of hepatocytes in MDCK cells, indicate that Par-1 modulates the developmental decision to build a columnar versus a hepatic epithelial cell. To our knowledge, Par-1 is the first gene assigned to this task in epithelial morphogenesis.

Animals↗

Acute cardiovascular effects of fetal surgery in the human.

BACKGROUND: Prenatal surgery for congenital anomalies can prevent fetal demise or alter the course of organ development, resulting in a more favorable condition at birth. The indications for fetal surgery continue to expand, yet little is known about the acute sequelae of fetal surgery on the human cardiovascular system. METHODS AND RESULTS: Echocardiography was used to evaluate the heart before, during, and early after fetal surgery for congenital anomalies, including repair of myelomeningocele (MMC, n=51), resection of intrathoracic masses (ITM, n=15), tracheal occlusion for congenital diaphragmatic hernia (CDH, n=13), and resection of sacrococcygeal teratoma (SCT, n=4). Fetuses with MMC all had normal cardiovascular systems entering into fetal surgery, whereas those with ITM, CDH, and SCT all exhibited secondary cardiovascular sequelae of the anomaly present. At fetal surgery, heart rate increased acutely, and combined cardiac output diminished at the time of fetal incision for all groups including those with MMC, which suggests diminished stroke volume. Ventricular dysfunction and valvular dysfunction were identified in all groups, as was acute constriction of the ductus arteriosus. Fetuses with ITM and SCT had the most significant changes at surgery. CONCLUSIONS: Acute cardiovascular changes take place during fetal surgery that are likely a consequence of the physiology of the anomaly and the general effects of surgical stress, tocolytic agents, and anesthesia. Echocardiographic monitoring during fetal surgery is an important adjunct in the management of these patients.

Adult↗