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Biomedical subjects

A Joseph

Publications and source records attributed to A Joseph.

At least 37 records · Page 2Linked to original sources

Stem cell differentiation and the effects of deficiency.

Stem cells have several unique attributes, the key features being their potency and plasticity. They have the ability to give rise to multiple cell lineages and to transdifferentiate into totally different cell type(s) when relocated to a novel stem cell niche. Most self-renewing tissues are served by stem cells. At the ocular surface, the corneo-scleral limbus is believed to provide the niche for corneal epithelial stem cells. A large body of circumstantial evidence, both clinical and basic, supports this view. However, specific identification of limbal stem cells has proved elusive. Cytokeratin markers, vimentin, epidermal growth factor receptors, p63, and others have been used to identify epithelial cell populations at the limbus, which could harbour putative stem cells. In contrast, none of the known haematopoietic stem cell markers namely, CD34 and CD133, stain any specific subset of corneal or limbal epithelial cells. Singly or collectively, none of these markers point to any unique cell(s) that could be regarded as stem cells, supporting the notion that the corneal epithelium is served by 'committed progenitors' rather than by stem cells. Disease or destruction of the corneo-scleral limbus is associated with consequential events that eventually lead to visual impairment or blindness. Conjunctivalisation and vascularisation of the corneal surface and persistent or recurring epithelial defects are hallmarks of limbal deficiency.

Cell Differentiation↗

Common mental disorders among primary care attenders in Vellore, South India: nature, prevalence and risk factors.

OBJECTIVE: The study examined the nature and prevalence of and the factors associated with common mental disorders in primary care in Vellore, South India. METHOD: Consecutive attenders (N = 327) to a primary health care facility were recruited. RESULTS: One hundred and eleven (33.9%) subjects satisfied criteria for common mental disorders. Depression was the common presentation (83.8%). Indicators of low socio-economic status (being in debt, inability to buy food, having less than three square meals per day) and illiteracy were significantly associated with caseness. CONCLUSIONS: Subjects with common mental disorders are commonly seen in primary health care settings. Illiteracy and poverty are associated with caseness. Primary health care research and policy needs to focus on common mental disorders.

Adult↗

Training teachers of day care centres for primary ear care.

The feasibility of training teachers of day care centres for children (balwadi teachers) to recognize and manage common ear problems was studied so that they could provide primary care for ear related morbidity in the community. A training module was designed, piloted on grass root level workers and used to train 19 balwadi teachers. Their knowledge, skills and technique of examination was assessed following training. Pathways for referral were established between the balwadis, secondary and tertiary hospitals. The knowledge score of the balwadi teachers increased from a mean of 28.4% to 86%; they scored an average of 75% in an assessment of their examination technique. Their sensitivity in identifying overall ear related morbidity was 75%, and 96% in identifying children with ear discharge, specifically. Age, education and experience did not affect the outcome of their training. While it may be premature to comment on the impact of the training, periodic supervision, close monitoring and review sessions would sharpen the skills of the balwadi teachers and improve their efficiency.

Adult↗

MRI and MRS of Coffin-Lowry syndrome: a case report.

MRI and MRS were used to examine the brain and the spine of a Coffin-Lowry syndrome (CLS) patient. There were moderately enlarged lateral and third ventricles and subarachnoid space with prominent Virchow-Robin spaces. MRS of basal ganglia and periventricular white matter was normal.

Brain↗

Immunity of patients surviving 20 to 30 years after allogeneic or syngeneic bone marrow transplantation.

The duration of immunodeficiency following marrow transplantation is not known. Questionnaires were used to study the infection rates in 72 patients surviving 20 to 30 years after marrow grafting. Furthermore, in 33 of the 72 patients and in 16 donors (siblings who originally donated the marrow) leukocyte subsets were assessed by flow cytometry. T-cell receptor excision circles (TRECs), markers of T cells generated de novo, were quantitated by real-time polymerase chain reaction. Immunoglobulin G(2) (IgG(2)) and antigen-specific IgG levels were determined by enzyme-linked immunosorbent assay. Infections diagnosed more than [corrected] 15 years after transplantation occurred rarely. The average rate was 0.07 infections per patient-year (one infection every 14 years), excluding respiratory tract infections, gastroenteritis, lip sores, and hepatitis C. The counts of circulating monocytes, natural killer cells, B cells, CD4 T cells, and CD8 T cells in the patients were not lower than in the donors. The counts of TREC(+) CD4 T cells in transplant recipients younger than age 18 years (at the time of transplantation) were not different from the counts in their donors. In contrast, the counts of TREC(+) CD4 T cells were lower in transplant recipients age 18 years or older, even in those with no history of clinical extensive chronic graft-versus-host disease, compared with their donors. The levels of total IgG(2) and specific IgG against Haemophilus influenzae and Streptococcus pneumoniae were similar in patients and donors. Overall, the immunity of patients surviving 20 to 30 years after transplantation is normal or near normal. Patients who received transplants in adulthood have a clinically insignificant deficiency of de novo-generated CD4 T cells, suggesting that in these patients the posttransplantation thymic insufficiency may not be fully reversible.

Adolescent↗

Hearing loss in children with Down syndrome.

OBJECTIVE: Previous studies report a 38-78% incidence of hearing loss in children with Down syndrome (DS). The purpose of this study was to establish more up to date information about hearing loss in children with DS. METHODS: A 5-year longitudinal study following the otolaryngologic problems seen in children with DS was initiated in February, 1999 at the Children's Hospital Medical Center in Cincinnati, OH. Aggressive, 'state of the art' treatment, both medical and surgical, was provided to a group of children, (n=48), all of whom were entered into the study at an age under 2 years. Specific interventions and treatments were reviewed in regards to following and treating the children's chronic ear disease. Hearing level results at the end of the first year of the study were evaluated in this publication. This includes both pre-treatment and post-treatment audiologic results. RESULTS: After treatment of easily reversible hearing loss from chronic otitis media, either with medical or surgical treatment with PET's, 98% of the children had normal hearing levels. Only two children had residual mild hearing losses after treatment interventions. CONCLUSION: Aggressive, meticulous and compulsive diagnosis and treatment of chronic ear disease in children with DS, started soon after birth, provides significantly improved hearing levels than reported previously.

Anti-Bacterial Agents↗

Immediate and six-month results of the profile of the Amplatzer septal occluder as assessed by transesophageal echocardiography.

Catheter closure of secundum atrial septal defect (ASD) using the Amplatzer septal occluder (ASO) is a potential alternative for open surgical repair. However, the large profile of the device obtained immediately after closure continues to raise some concerns regarding its long-term safety. To evaluate the changes in the profile of the device after being deployed, transesophageal echocardiography was performed in 70 patients (17 men and 53 women) who underwent catheter closure of ASDs immediately after and at 6-month follow-up. The median age at closure was 16 years (range 1.9 to 75) and the median size of the ASD as assessed by transesophageal echocardiography was 14 mm (range 3 to 25). The thickness (profile) of the device was assessed in the 4-chamber, short- and long-axis views of the interatrial septum, and measured at its middle and at the junction of the waist with the disc at its 2 ends. Seventy-three devices were deployed in the 70 patients. The median size of the device was 19 mm (range 8 to 34). Complete closure was achieved in 81.4% and 91.4% immediately after and at 6-months follow-up, respectively. The thickness of the device at its middle decreased from 12.2 +/- 4.3, 12.2 +/- 3.7, and 12.5 +/- 4.3 mm in the 4-chamber, short- and long-axis views to 6.5 +/- 2.0, 6.3 +/- 1.9, and 6.5 +/- 2.2 mm, respectively. The thickness of the device at its superior, inferior, anterior, and posterior edges also decreased by 41.8% +/- 14.0% to 43.7% +/- 9.8%. The changes in the thickness were related to device size. Larger devices were thicker after being deployed. We conclude that the thickness of the ASO decreases by 42% to 48% within 6 months after deployment, resulting in a lower profile.

Adolescent↗

Mutation analysis of the MCM gene in Israeli patients with mut(0) disease.

Three novel mutations (IVS8+3a --> g, N219Y, and E414X) were identified in 6 unrelated patients with mut(0) methylmalonic aciduria. The presence of a wild-type along with rearranged fragments in homozygotes for the IVS8+3a --> g mutation may contribute to their later age of onset (3-11 months of age). Nonetheless, delayed onset was not associated with better neurological outcome and prolonged survival. The large number of undiagnosed dead sibs in most families suggests that the disease is largely underdiagnosed in this region.

Amino Acid Metabolism, Inborn Errors↗

Imaging transgene expression in live animals.

Monitoring the expression of therapeutic genes in targeted tissues in disease models is important to assessing the effectiveness of systems of gene therapy delivery. We applied a new light-detection cooled charged-coupled device (CCCD) camera for continuous in vivo assessment of commonly used gene therapy delivery systems (such as ex vivo manipulated cells, viral vectors, and naked DNA), without the need to kill animals. We examined a variety of criteria related to real-time monitoring of luciferase (luc) gene expression in tissues including bone, muscle, salivary glands, dermis, liver, peritoneum, testis, teeth, prostate, and bladder in living mice and rats. These criteria included determination of the efficiency of infection/transfection of various viral and nonviral delivery systems, promoter specificity, and visualization of luciferase activity, and of the ability of luciferin to reach various organs. The exposure time for detection of luc activity by the CCCD camera is relatively short (approximately 2 minutes) compared with the intensified CCD camera photon-counting method (approximately 15 minutes). Here we transduce a variety of vectors (such as viruses, transfected cells, and naked DNA) by various delivery methods, including electroporation, systemic injection of viruses, and tail-vein, high-velocity-high-volume administration of DNA plasmids. The location, intensity, and duration of luc expression in different organs were determined. The distribution of luciferin is most probably not a barrier for the detection of in vivo luciferase activity. We showed that the CCCD photon detection system is a simple, reproducible, and applicable method that enables the continuous monitoring of a gene delivery system in living animals.

Adenoviridae↗

Spinal cord injury and sexuality in married or partnered men: activities, function, needs, and predictors of sexual adjustment.

The sexual behaviors, functioning, needs, and sexual satisfaction levels of men with spinal cord injuries (SCI) were studied. A sample of 50 men with SCI (median age = 50; median age at injury = 25.0), either married or in a committed relationship, responded to an anonymous survey of a large southern California regional spinal injury rehabilitation center. Multiple regression analyses indicated that perceived partner satisfaction, relationship quality, and sexual desire were significant predictors of sexual satisfaction and behavior. Erectile function, level of genital sensation, and orgasmic capacity all varied widely in the sample, as well. However, none of these variables were significantly related to sexual satisfaction. A varied sexual repertoire was independently related to sexual satisfaction and behavior, but did not offer additional predictive power. Results suggest that for married or partnered men with SCI, relationship factors including partner satisfaction and relationship quality are significantly and positively related to sexual satisfaction. Married or partnered men with SCI who report low relationship satisfaction, have difficulty satisfying their partner, and/or report low sexual desire may benefit from assessments and interventions that address these issues.

Adaptation, Psychological↗

Characteristics of antenatal care attenders in a rural population in Tamil Nadu, South India: a community-based cross-sectional study.

The objectives of the study were to identify factors associated with utilisation of antenatal care facilities in a rural population in South India. A community-based, cross-sectional questionnaire study of 30 randomly selected areas was used. A total of 1254 women (95%) had at least one antenatal care visit. The median number of visits was four. High utilisation of antenatal care facilities was associated with low parity and adverse obstetrical history, short distance to healthcare facilities and literacy. It was concluded that antenatal care coverage was high. Information about the above few aspects can be used to target women who are at risk of getting inadequate antenatal care.

Adolescent↗

Arithmetic skills in kindergarten children with developmental language disorders.

Although arithmetic is not a language-based skill, a specific learning disability in arithmetic--dyscalculia--is commonly seen in children with developmental language disorders (DLD). The object of this study was to assess whether kindergarten children with DLD have impaired arithmetic skills and, if so, to correlate the pattern of dysfunction with language syndromes. Forty-two children with DLD attending mainstream kindergartens, and their matched controls, underwent an arithmetic battery, neurological examination, intelligence quotient (IQ) test (WPPSI/WISC-R) and language assessment (CELF-R).* Attention deficit hyperactivity disorder (ADHD) was diagnosed by psychological assessment and behaviour questionnaires. Results showed that children with DLD were similar to controls on performance IQ (104.2+/-12.1 and 109.4+/-12.7 respectively, p = NS), but inferior on both the CELF-R expressive (74.8+/-9.3 vs 95.2+/-15.1, p < 0.01) and receptive (77.5+/-10.0 vs 87.8+/-12.3, p < 0.01) language scores. Their performance on the arithmetic battery was also significantly poorer: 61.2+/-17.7 vs 77.4+/-13.7, p < 0.01. Low scores in reasoning principles and arithmetic operations were associated with both receptive and expressive language impairment, while poor performance on counting principles was primarily associated with expressive deficits. Mild motor signs and ADHD were more frequent in children with DLD (p < 0.01 and < 0.05, respectively). We concluded that the arithmetic impairment in children with DLD is pervasive, affecting a broad spectrum of skills. Whereas impairment of most arithmetic skills is associated with global language disturbances, counting correlates primarily with expressive language deficits. Anticipatory guidance by physicians will better prepare parents and educators for the multiple challenges facing children with DLD.

Attention Deficit Disorder with Hyperactivity↗