Joint attention and symbolic play in young children with autism: a randomized controlled intervention study

Joint attention and symbolic play in young children with autism: a randomized controlled intervention study . Kasari C. , Freeman S. & Paparella T. ( 2006 ) Journal of Child Psychology and Psychiatry (formerly Journal of Child Psychology and Psychiatry and Allied Disciplines) , 47 , 611 – 620 .     

Keratoconus in monozygotic twins in New Zealand

We report on a case of keratoconus in identical twins who were brought up in Christchurch, New Zealand. Videokeratoscopy using an EyeSys^a (EyeSys Laboratories, Houston, Texas, USA) revealed not only marked differences in severity of keratoconus between the sisters, but also non-equivalent cone types. Both twin sisters reported an exacerbation of their keratoconus during pregnancy and during breast feeding. Various factors affecting the development and progression of keratoconus are discussed. (Clin Exp Optom 1995; 78: 4: 125–129)     

Investigation of focal hepatic lesions: Is tomographic red blood cell imaging useful?

Noninvasive diagnosis of cavernous hemangioma of the liver is an important step in the investigation of patients with focal hepatic lesions since biopsy may result in life-threatening hemorrhage. To determine the diagnostic accuracy of 99m-technetium red blood cell (^99mTc-RBC) imaging with tomography, 50 patients with various types of focal liver lesions were studied. Thirty-two patients had 45 hemangiomas and 7 other benign lesions while 18 patients had either primary (n=8) or secondary (n=10) hepatic malignancies. Tomographic imaging identified 12 more hemangiomas than planar imaging, improving sensitivity from 53% to 80%, and was found most useful for detection of smaller lesions (mean size, 2.1 cm). Specificity for hemangiomas was 100% with all lesions greater than 1.9 cm showing the characteristic scintigraphic pattern of blood-pooling on delayed images. There was excellent agreement between 2 independent observers concerning interpretation of tomographic images (89% for the hemangioma group and 100% for other patients). Therefore^99mTc-RBC scintigraphy with tomography is an accurate diagnostic technique in the investigation of cavernous hemangiomas. Its major value resides in its ability to distinguish hemangiomas from other types of hepatic pathology.

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Resumen El diagnóstico no invasivo del hemangioma cavernoso del hígado es un paso de importancia en el proceso de investigación de pacientes con lesiones hepáticas focales, puesto que la biopsia puede resultar en hemorragia de consecuencias potencialmente fatales. Con el objeto de determinar la certeza diagnóstica de la tomografía con glóbulos rojos marcados con tecnecio 99m, se estudiaron 50 pacientes con varios tipos de lesiones hepáticas focales. Treinta y dos pacientes presentaron 45 hemangiomas y 7 lesiones benignas, en tanto que 18 pacientes presentaron neoplasias malignas primarias (n=8) o secundarias (n=10). Las imágenes tomográficas obtenidas por este método lograron identificar 12 hemangiomas más, en comparación con imágenes convencionales, aumentando la sensibilidad de 53% a 80%, y demostró ser de máxima utilidad para la detección de las lesiones más peque¯nas (tamaño promedio, 2.1 cm). La especificidad para los hemangiomas fue 100%, con todas las lesiones mayores de 1.9 cm exhibiendo el patrón centelleográfico característico de estancamiento sanguíneo en las imágenes tardías. Se encontró excelente correlación entre 2 observadores independientes en la interpretación de las imágenes tomográficas (89% para el grupo de pacientes con hemangiomas y 100% para el resto de los pacientes). En consecuencia, la escintigrafía con glóbulos rojos marcados con^99mTc aparece como una técnica certera en el diagnóstico de los hemangiomas cavernosos. Su mayor valor reside en su habilidad para diferenciar los hemangiomas de otra clase de patología.

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Résumé Le diagnostic non invasif d'hémangiome caverneux du foie est une étape importante dans l'investigation des patients ayant des lésions hépatiques focales, puisque la biopsie risque de se résoudre par une hémorrhagie menaçant le pronostic vital. Pour définir la précision diagnostique de la tomoscintigraphie après marquage des hématies au technetium 99m (^99mTc), on a étudié 50 patients ayant des types différents de lésions focales du foie. Trente-deux patients avaient 45 hémangiomes et 7 lésions bénignes tandis que 18 patients avaient des tumeurs hépatiques malignes soit primaires (n=8) soit secondaires (n=10). L'imagerie tomographique a identifié 12 hémangiomes de plus que l'imagerie planaire, améliorant la sensibilité de 53% à 80% et s'est avérée très utile pour détecter les lésions plus petites (taille moyenne, 2.1 cm). La spécificité pour les hémangiomes était de 100% pour toutes les lésions dépassant 1.9 cm montrant les caractères scintigraphiques typiques d'accumulation de sang sur les images retardées. Il y a eu concordance totale entre 2 observateurs indépendents sur l'interprétation des images tomographiques (89% pour le groupe des hémangiomes et 100% pour les autres patients). Voilà pourquoi la scintigraphie^99mTc avec tomographie est une technique de diagnostic précis dans l'investigation des hémangiomes caverneux. Sa valeur essentielle est sa capacité de distinguer les hémangiomes des autres types de pathologie hépatique.

     

Fluorescence in situ hybridization analysis of chromosome 12p in paraffin-embedded tissue is useful for establishing germ cell origin of metastatic tumors.

The over-representation of chromosome 12p sequences is crucial for the development of invasive testicular germ cell tumors. Testicular cancer patients may have metastatic tumors of diverse histologic types, including adenocarcinoma, undifferentiated carcinoma, sarcoma, or other malignancies that lack features of germ cell tumors. We sought to investigate the possible germ cell origin of such tumors using interphase fluorescence in situ hybridization. In all, 10 metastatic malignant somatic-type tumors from patients with histories of testicular cancer, as well as one malignant somatic-type tumor from a patient with primary mediastinal germ cell tumor were studied and included: adenocarcinoma (five cases), poorly differentiated carcinoma (one), sarcoma (four), and neuroendocrine carcinoma (one). The tumors were analyzed using fluorescence in situ hybridization using 12p spectrum green and 12 centromeric spectrum orange probes in paraffin sections. The patients ranged in age from 27 to 55 years (mean, 43). Colon and lung cancers from patients without germ cell tumors were used as controls. Adequate signals were observed in all tumors. Gain of chromosome 12p was seen in six tumors. None of the control tumors showed 12p amplification. Fluorescence in situ hybridization for 12p amplification in routinely processed surgical specimens is a useful adjuvant diagnostic tool in confirming the germ cell origin of metastatic tumors having the histologic appearance of somatic-type neoplasms.     

Neurological complications in AIDS patients: the 1-year retrospective study in Chiang Mai University, Thailand

The first case of AIDS patient in the northern part of Thailand was reported in 1987 (Vithayasai et al., 1996), marking the outbreak of an epidemic. In our experience, the neurological involvement in AIDS patients seems to have changed in pattern and incidence during the last 8 years. We have conducted a retrospective study to review the incidence of AIDS-defining diseases in the patients admitted to Chiang Mai University Hospital, Thailand during the period September 2001 to August 2002. There were 155 AIDS patients admitted during this specified period, 118 of which were male and 37 female, aged between 16 and 60. The incidence of neurological complications was 50.3 per 100 person-years, in which central nervous system involvement account for 46.5 per 100 person-years and peripheral nervous system involvement account for 3.8 per 100 person-years. The incidence of cryptococcal meningitis appeared to be decreasing since 1994 whereas the incidence of cerebral toxoplasmosis appeared to be increasing. The incidence of cryptococcal meningitis, cerebral toxoplasmosis and cytomegalovirus (CMV) infection was 18.0, 14.8 and 7.0 per 100 person-years, respectively. Other common non-neurological AIDS-defining illnesses in northern Thailand include pulmonary tuberculosis (15.4 per 100 person-years), extra-pulmonary tuberculosis (9.6 per 100 person-years), and disseminated penicilliosis (12.2 per 100 person-years). In this way and summarizing, in northern Thailand, the three most common neurological involvements before the era of highly active anti-retroviral therapy are cryptococcal meningitis, cerebral toxoplasmosis and CMV infection. The incidence of cryptococcal meningitis appeared to be decreasing whereas the incidence of cerebral toxoplasmosis seemed to be increasing.     

Crystal deposits in the human intervertebral disc: implications for disc degeneration.

BACKGROUND CONTEXT: Although crystal deposition in cartilage and synovial fluid has received much attention, crystal formation and the role that crystal deposits play are virtually unexplored in the intervertebral disc. In articular cartilage matrix, crystal deposits are associated with altered extracellular matrix (ECM) and cell phenotypic features, but crystal deposition in the human intervertebral disc has received much less attention. PURPOSE: To determine the incidence of crystal deposits in the annulus and to evaluate associated disc cell and ECM features. STUDY DESIGN/SETTING: Human intervertebral disc annulus tissue was obtained in a prospective study of the presence of crystals in the disc ECM. Human Subjects Institutional Review Board approved experimental studies. PATIENT SAMPLE: Two hundred eight sequential disc specimens were submitted from surgical disc procedures performed on individuals with herniated discs, degenerative disc disease, or recurrent disc herniation. During this same time period, three disc specimens were received from nonsurgical donors and added to the study population. OUTCOME MEASURES: Histologic features with special attention to crystal deposition. METHODS: Specimens were processed undecalcified and examined for the histologic presence of crystal deposits and ECM features around the crystals. RESULTS: The proportion of specimens containing crystals was determined to be 14.7%; crystals displayed varying sizes, morphology, and polarized light birefringence features. Pyrophosphate crystals were most common, but oxalate-like crystals were also present. ECM in crystal regions showed previously recognized alterations. CONCLUSIONS: This study shows that the incidence of crystal deposits in discs is approximately 15% and is thus a relatively common occurrence. These data are important because masses of crystals not only disrupt disc ECM but may also accelerate preexisting degenerative changes via an elevation in matrix metalloproteinases (as previously recognized in cartilage). Because failure of the structural integrity of the disc can result in annular tears and subsequent disc herniation, the mechanisms of crystal formation and the relationship between crystals and disc degeneration merit further investigations.     

Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene.

Parkin mutations account for the majority of familial and sporadic early onset Parkinson's disease (EOPD) cases with a known genetic association. More than 100 mutations have been described in the Parkin gene that includes homozygous, compound heterozygous, and single heterozygous mutations. We have designed a Parkin mutation genotyping array (gene chip) that includes published Parkin sequence variants and allows their simultaneous detection. The chip was validated by screening 85 PD cases and 47 controls previously tested for Parkin mutations. Similar genotyping microarrays have been developed for other genetically heterogeneous diseases including age-related macular degeneration. Here, we show the utility of a genotyping array for Parkinson's disease by analysis of 60 subjects from the Genetic Epidemiology of Parkinson Disease (GEPD) study that includes 15 early-onset PD case probands and 45 relatives.     

The psychological and social characteristics of patients referred for NHS cosmetic surgery: quantifying clinical need.

PURPOSE: Elective cosmetic surgery is expanding in the UK in both the public and private sectors. Because resources are constrained, many cosmetic procedures are being excluded within the National Health Service. If guidelines on who can receive such surgery are to be evidence-based, information is needed about the level of dysfunction in patients referred for elective surgery and whether this is related to their degree of physical abnormality. METHOD: Consecutive patients referred to a regional plastic surgery and burns unit for assessment for elective cosmetic surgery completed standardised measures of physical and psychosocial dysfunction, and indicated their perception of the degree of their abnormality and their preoccupation with it. We distinguished between patients referred for physical reasons or appearance reasons only, and compared levels of physical and psychosocial dysfunction in each with published values for community and clinical samples. Surgeons indicated patients' degree of objective abnormality, and we identified the relationship of dysfunction with perceived and objective abnormality and preoccupation. RESULTS: Whether patients sought surgery for physical or appearance reasons, physical function was normal. Those seeking surgery for appearance reasons only had moderate psychosocial dysfunction, but were not as impaired as clinical groups with psychological problems. Patients seeking the correction of minor skin lesions for purely appearance reasons reported excellent physical and psychosocial function. Level of function was related (negatively) to patients' preoccupation with abnormality rather than to their perceived or objective abnormality. CONCLUSIONS: In general, patients referred for elective cosmetic surgery did not present with significant levels of dysfunction. Moreover, levels of functioning were related to preoccupation rather than to objective abnormality. Therefore, for most patients, whether surgical treatment is generally appropriate is questionable. Future guidelines must seek to identify the small minority who do have a clinical need for surgery.