Optimal Timing of Pulmonary Banding for Newborns with Single Ventricle Physiology and Unrestricted Pulmonary Blood Flow.

The aim of this study was to determine the optimal timing of pulmonary artery band (PAB) placement in neonates with single ventricle physiology, unrestricted pulmonary blood flow, and no systemic outflow tract obstruction. Retrospective chart review of all patients who underwent isolated PAB for single ventricle physiology between January 2005 and December 2014 was carried out. The influence of age at the time of PAB on operative mortality, the need for reoperation to adjust the PAB, the preparedness of the pulmonary vascular bed prior to the second-stage bidirectional cavopulmonary shunt (BCPS), and the outcomes following BCPS were studied. The study cohort included 54 subjects (34 males). The median age at the time of PAB was 18 days. The overall mortality following PAB was 4 % (2/54). Reoperation for PAB adjustment was 7 % (4/54). Younger age at the time of PAB was not associated with mortality or increased risk of reoperation. There was a mild positive correlation between the age at PAB and the mean pulmonary artery pressure prior to BCPS. There was also a weak positive correlation between the age at PAB and the duration of ventilation following BCPS. Age at the time of PAB did not influence pulmonary vascular resistance (PVR) prior to BCPS or the mortality and hospital stay following BCPS. PAB can be done safely and effectively soon after birth in neonates with single ventricle physiology, increased pulmonary blood flow, and no potential or actual systemic outflow tract obstruction. It may not be necessary to wait for a few weeks after birth for the neonatal PVR to fall before placing a PAB.

708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: analysis for association with psychiatric disorder and cognitive traits.

A balanced t(1;11) translocation that transects the Disrupted in schizophrenia 1 (DISC1) gene shows genome-wide significant linkage for schizophrenia and recurrent major depressive disorder (rMDD) in a single large Scottish family, but genome-wide and exome sequencing-based association studies have not supported a role for DISC1 in psychiatric illness. To explore DISC1 in more detail, we sequenced 528 kb of the DISC1 locus in 653 cases and 889 controls. We report 2718 validated single-nucleotide polymorphisms (SNPs) of which 2010 have a minor allele frequency of <1%. Only 38% of these variants are reported in the 1000 Genomes Project European subset. This suggests that many DISC1 SNPs remain undiscovered and are essentially private. Rare coding variants identified exclusively in patients were found in likely functional protein domains. Significant region-wide association was observed between rs16856199 and rMDD (P=0.026, unadjusted P=6.3 × 10(-5), OR=3.48). This was not replicated in additional recurrent major depression samples (replication P=0.11). Combined analysis of both the original and replication set supported the original association (P=0.0058, OR=1.46). Evidence for segregation of this variant with disease in families was limited to those of rMDD individuals referred from primary care. Burden analysis for coding and non-coding variants gave nominal associations with diagnosis and measures of mood and cognition. Together, these observations are likely to generalise to other candidate genes for major mental illness and may thus provide guidelines for the design of future studies.

Identification of potential barriers for timely access to pediatric sibling eye check-up in a tertiary eye care hospital.

Purpose: To identify socio-economic, demographic, and clinical factors that may be associated with sibling access to ophthalmic check-up. Methods: A cross-sectional, descriptive study investigated children in the age group of 0-15 years under a project on Systematic Pediatric Eye Care Through Sibling Screening Strategies (SPECSSS project). The siblings of pediatric patients (proband) with refractive errors, strabismus, cataract, glaucoma, and retinal pathologies were given a referral card for ophthalmic check-up. If parents do not bring siblings for check-up within 1 month of initial information and even after 2 SMS reminders, it was considered as failure to uptake of services. On follow-up later, they were provided a questionnaire. A questionnaire was given to the parent by interview through a project coordinator, and details were obtained from the parents or caretaker. Parents who were willing for telephonic interview were asked to respond to the questionnaire over phone on the scheduled date. The sibling details, parent-related details, and data from questionnaire forms were entered and analyzed. Results: The mean age of 300 siblings was 9.3 ± 4.0 years with the majority of them being female (158). The most common reasons quoted by parents in the rural area compared with the urban area for not bringing siblings for eye exams were the travel distance from home to the hospital (n = 118, 83.7%), the travel time from home to the hospital (n = 109, 77.3%), more than one vehicle required to change (n = 111, 78.7%), and the transportation cost more than rupees 100 (INR) (n = 89, 63.1%) (p < 0.05). Unable to leave work responsibilities (n = 126, 79.3%) was stated more frequently by urban parents compared to rural (p = 0.039). Conclusion: Our study suggests that the financial factor, the distance factor, and social belief play an important role in timely uptake of sibling eye check-up. Targeting siblings with treatable pediatric eye diseases could help in reducing the burden of refractive error, strabismus, and cataract in the pediatric population.

Assessment of parental awareness about pediatric visual problems by Knowledge-Attitude-Practice survey in South India.

Purpose: To find out parents' knowledge, attitude, and treatment practice (KAP) toward pediatric eye problems and to assess the effect of demographic factors such as gender, age, educational status, and number of children on KAP. Methods: A cross-sectional descriptive study was conducted in a hospital setting. Two hundred parents were randomly selected for the questionnaire. All parents had children who were included in Systematic Pediatric Eye Care Through Sibling Screening Strategies (SPECSSS) study. A survey with 15 questions on KAP of pediatric eye diseases was prepared and administered to parents coming to a tertiary eye hospital with varied experience and education qualifications. Results: The mean age of 200 patients was 9.6 (3.4) years, with the majority of them male (n = 110; 55.0%). The majority of the children (n = 91, 45.5%) were between the age group of 6-10 years. Knowledge of visual problems among parents was of a good grade in 9% only. The attitude of the parents toward the visual problem was positive at 17%, and the responses regarding the practice were of excellent grade at 46.5% and good at 26.5%. Analysis suggests that the level of knowledge and practice were not significantly associated with the demographic factors (p > 0.05). The positive attitude toward the visual problems of the children was associated with education of the parents (p < 0.05) and the father occupation (p < 0.05). Conclusion: Knowledge about pediatric eye diseases was poor among parents and it was significantly affected by education and occupation of parents. The parents have positive attitude toward enhancing their attitude in treatment.

Reversible cerebral vasoconstriction syndrome in a patient with systemic lupus erythematosus.

A 42-year-old woman, a diagnosed case of systemic lupus erythematosus (SLE), developed severe headache followed by left hemiparesis and cortical blindness. Magnetic resonance imaging (MRI) of brain demonstrated right parieto-occipital infarct and the patient was initiated on high-dose steroids and antiplatelet agents with which the patient had clinical and radiological deterioration. Magnetic Resonance angiography showed severe narrowing of bilateral anterior, middle, and posterior cerebral arteries (PCA) suggestive of reversible cerebral vasoconstriction syndrome (RCVS). Patient was treated with IV nimodipine and she recovered over a period of 2 weeks. Repeat MR-angiography done on day-30 was normal. The diagnosis of RCVS in patients with SLE is of practical importance, because treatment and prognosis for SLE-associated cerebral vasculitis differ strongly from the treatment of RCVS. Empirical high-dose glucocorticoid therapy should be avoided in patients with typical features of RCVS.

Earnings among people with spinal cord injury.

STUDY DESIGN: Secondary analysis of cross-sectional data. OBJECTIVES: To identify differences in earnings among participants with spinal cord injury (SCI) and their relation to demographic, injury, educational and employment-related factors. SETTING: People living with SCI in the community who were members of a disability support organization. METHODS: A total of 76 members who have had traumatic SCI for at least 2 years, between 15 and 64 years of age at time of study and were working before SCI were interviewed over the phone. The earnings were categorized as more, same or less than before SCI or no income for those unemployed. RESULTS: Of the 76 participants (who averaged about 15.1 years post SCI), only 13 participants (17.1%) were earning more than before injury, whereas majority were in the category of having no income, being unemployed at time of study, n=36 (47.4%). Factors positively related to earnings were having more years in education, both at time of injury and at time of survey. As anticipated, those currently in full time and paid employments were earning more while receipt of financial compensation was negatively related to earnings. CONCLUSION: Despite a lengthy period of time post SCI, only a minority were earning more, reflecting poorly on the quality of post SCI employment experience. The rehabilitation team should therefore focus on improving both educational and vocational opportunities for persons with SCI and aim for full time, paid employments. The current workers' compensation scheme renders the recipient at a static income and may need to be revised.

Return to work after spinal cord injury in Malaysia.

STUDY DESIGN: Cross-sectional survey. OBJECTIVES: To determine the employment outcomes of persons with spinal cord injury (SCI) and to investigate the impact of various demographic, injury-related and work-related variables on these outcomes. SETTING: People living with SCI in Malaysia who are members of a disability support organization. METHODS: A total of 84 members of the Malaysian Spinal Injury Association, who have had traumatic SCI for at least 2 years and were between 15 and 64 years of age at the time of study, were interviewed through phone using a questionnaire to identify the association between demographic, injury-related and work-related variables and employment outcomes. RESULTS: The return to work rate in this study was 57.1% (employed at the time of study). The overall employment rate after SCI was 76.2% (worked at some point after injury). Those who were younger at time of injury (<20 years of age), able to drive a modified vehicle, independent in personal care and mobility were positively related to being employed. On the other hand, being hospitalized in the preceding 1 year and receiving financial incentives were negatively related to employment. CONCLUSION: Functional independence, especially ability to drive, was strongly associated with return to work and should be one of the priority goals of comprehensive rehabilitation of persons with SCI. The negative impact of recent hospitalization as well as financial compensation needs to be probed further.

Return to work after spinal cord injury: factors related to time to first job.

STUDY DESIGN: Cross-sectional survey. OBJECTIVES: To investigate factors related to length of time between spinal cord injury (SCI) onset and start of first post-injury employment. SETTING: Persons living with SCI in the community who are members of a disability support organization. METHODS: Participants were randomly selected from the membership list of a non-governmental voluntary organization. They met the following four criteria: traumatic SCI, minimum of 15 years of age at the time of survey, a minimum of 2 years after SCI and had been employed for some time since SCI. The main outcome measure was time (in years) from injury onset to beginning first post-injury job. RESULTS: Participants averaged 4.9 years (s.d. 5.1) from the time of SCI to their first post-injury job, with a range of 3 months to 20 years. Fifty percent of the participants who eventually returned to work had done so by 4 years. Return to pre-injury employer and employment were associated with early return, whereas having less years in education and being older at the time of injury were associated with longer time to return to work. CONCLUSION: Rehabilitation team need to consider return to employment as a realistic goal even many years after SCI. Perhaps a focus on returning more people to their pre-injury employer and employment with added focus and input from rehabilitation team for those with lower education status and older age at time of injury might expedite the process of reintegration.

Evaluation of Asthma Control in Children Using Childhood- Asthma Control Test (C-ACT) and Asthma Therapy Assessment Questionnaire (ATAQ).

OBJECTIVE: To evaluate the efficacy of Childhood-asthma control test (C-ACT) and the Asthma therapy assessment questionnaire by (ATAQ) checking its consistency with Global Initiative for Asthma (GINA) criteria. METHODS: Asthma control of 97 children was assessed using C-ACT, ATAQ and GINA criteria separately, and their results were compared. RESULTS: C-ACT had better performance for evaluating control as per GINA criteria with sensitivity of 48.3%, specificity of 68.9%, and area under the receiver operative curve (ROC) of 0.647. The above parameters for ATAQ were: 93.1%, 17.2% and 0.552, respectively. A cut-off score of 20 for C-ACT is more suitable as it has maximum ROC area (0.667), and higher kappa score (0.315); P= 0.001. CONCLUSION: C-ACT can be validity used to monitor asthma control. However, the cut-off score 20 is more accurate for the Indian population. The performance of ATAQ in evaluating asthma control is not satisfactory.

Cellular models to study schizophrenia: A systematic review.

BACKGROUND: Advancements in cellular reprogramming techniques have made it possible to directly study brain cells from patients with neuropsychiatric disorders. We have systematically reviewed the applications of induced pluripotent stem cells (IPSCs) and their neural derivatives in understanding the biological basis of schizophrenia. METHOD: We searched the scientific literature published in MEDLINE with the following search strategy: (Pluripotent) AND (Schizophrenia OR Antipsychotic OR Psychosis). Studies written in English that used IPSCs derived from patients with schizophrenia were included. RESULTS: Out of 23 articles, which had used IPSCs from patients with schizophrenia, neurons or neural stem cells had been derived from them in a majority. Several parameters had been studied; the key cellular phenotypes identified included those of synaptic pathology, neural migration/proliferation deficits, and abnormal oxidative phosphorylation. CONCLUSION: Cellular modelling using IPSCs could improve the biological understanding of schizophrenia. Emerging findings are consistent with those of other study designs (post-mortem brain expression, animal studies, genome-wide association, brain imaging). Future studies should focus on refined study designs (family-based, pharmacogenomics, gene editing) and a combination of cellular studies with deep clinical phenotyping.

Tactile Stimulation Evokes Long-Lasting Potentiation of Purkinje Cell Discharge In Vivo.

In the cerebellar network, a precise relationship between plasticity and neuronal discharge has been predicted. However, the potential generation of persistent changes in Purkinje cell (PC) spike discharge as a consequence of plasticity following natural stimulation patterns has not been clearly determined. Here, we show that facial tactile stimuli organized in theta-patterns can induce stereotyped N-methyl-D-aspartate (NMDA) and gamma-aminobutyric acid (GABA-A) receptor-dependent changes in PCs and molecular layer interneurons (MLIs) firing: invariably, all PCs showed a long-lasting increase (Spike-Related Potentiation or SR-P) and MLIs a long-lasting decrease (Spike-Related Suppression or SR-S) in baseline activity and spike response probability. These observations suggests that tactile sensory stimulation engages multiple long-term plastic changes that are distributed along the mossy fiber-parallel fiber (MF-PF) pathway and operate synergistically to potentiate spike generation in PCs. In contrast, theta-pattern electrical stimulation (ES) of PFs indistinctly induced SR-P and SR-S both in PCs and MLIs, suggesting that tactile sensory stimulation preordinates plasticity upstream of the PF-PC synapse. All these effects occurred in the absence of complex spike changes, supporting the theoretical prediction that PC activity is potentiated when the MF-PF system is activated in the absence of conjunctive climbing fiber (CF) activity.

Profile of pediatric burns Indian experience in a tertiary care burn unit.

Pediatric burns admitted to the tertiary care burn facility of Kanchi Kamakoti CHILDS Trust Hospital in Chennai (India) were retrospectively analysed between 1992 and 2003. Five hundred and thirty-five burn cases were admitted during these years. These children belonged to the age group of 0-18 years (as WHO has increased the pediatric age group range to 0 to 18 years). The etiology of these burns was looked into and the outcome of these patients in respect to etiology and complications were studied. After analysis, they were classified according to age, sex, TBSA and the occurrence of infection during the course of treatment. The complications that really affected the outcome were looked into and infection ranked first in fatal cases. Inhalation burns were not very common in our group and were associated only with large flame burns, which occur when a child is burnt while the mother commits suicide, or in cases of abuse of female children in a closed room with lots of inflammable upholstery. Scalds were the most common type of burn among children under 4 years of age. Flame burns predominated the older age group. Although there were 13 deaths among the entire group, the majority occurred within the 2-4 years age group. There was no significant gender difference with respect to mortality. Large burn size and infection were the strongest predictors of mortality.

Massive gastrointestinal bleeding in a patient with AIDS.

Cytomegalovirus enteritis can lead to gastrointestinal bleeding in patients with the acquired immune deficiency syndrome. The commonest site of involvement is the colon, followed by the stomach and terminal ileum. Most of these lesions can be diagnosed by colonoscopy or gastroscopy. We present our experience of a patient with cytomegalovirus infection involving only the proximal jejunum causing massive lower gastrointestinal bleeding. Conventional endoscopy and imaging had failed to locate the source of bleeding. Enteroscopy performed at the time of laparotomy showed an ulcerated lesion in the jejunum. Resection followed by histological examination of the resected area confirmed the diagnosis of cytomegalovirus infection. In addition to highly active antiretroviral therapy, ganciclovir was given for 14 days in a dose of 5 mg/kg twice a day and tapered over a period of 3 months. There has been no further episode of gastrointestinal bleeding over a follow up of 9 months.

Response of keloid fibroblasts to Vitamin D3 and quercetin treatment - in vitro study.

Keloid scars continue to pose a challenge to clinicians as the treatment armamentarium lacks a formidable agent to tackle them. We have undertaken an in vitro study based on the mechanism of action of Vitamin D3 and quercetin on isolated keloid fibroblasts. Dose-dependent action on the reduction of cellular proliferation, collagen synthesis and induction of apoptosis by Vitamin D3 and quercetin are analyzed and probable mechanism of action is elaborated. This study thus opens up newer avenues in tackling keloid scars effectively.

Les cicatrices chéloïdes restent un défi pour les cliniciens car il n'existe pas encore un agent efficace pour les traiter. Pour cette raison nous avons entrepris une étude in vitro sur le mécanisme d'action de la vitamine D3 et la quercétine sur des fibroblastes isolées à partir de chéloïdes. Nous avons analysé l'effet dose dépendant de la vitamine D3 et la quercétine sur la diminution de la prolifération cellulaire, la synthèse du collagène et de l'induction de l'apoptose, et élaboré le mécanisme probable de cette action. Notre étude ouvre ainsi des voies nouvelles dans la lutte contre les cicatrices chéloïdes.

Sex determination in forensic odontology: A review.

Forensic odontology is the application of dental principles to legal issues. Sex determination is a subdivision of forensic odontology and it is very important especially when information relating to the deceased is unavailable. Sex determination becomes the first priority in the process of identification of a person by a forensic investigator in the case of mishaps, chemical and nuclear bomb explosions, natural disasters crime investigations, and ethnic studies. This article reviews upon the various methods used in sex determination.

Oral pigmentation: A review.

Pigmentations are commonly found in the mouth. They represent in various clinical patterns that can range from just physiologic changes to oral manifestations of systemic diseases and malignancies. Color changes in the oral mucosa can be attributed to the deposition of either endogenous or exogenous pigments as a result of various mucosal diseases. The various pigmentations can be in the form of blue/purple vascular lesions, brown melanotic lesions, brown heme-associated lesions, gray/black pigmentations.

Multiple myeloma involving mandible: In an elderly female.

Multiple myeloma (MM) is a malignancy of plasma cell origin. It often has a multicentric origin within the bone. It makes about 1% of all malignancies and 15% of all hematologic malignancies. There is a monoclonal proliferation of abnormal plasma cells in this disease that arise from a single malignant precursor that has undergone uncontrolled mitotic division. These cells in turn produce one type of immunoglobulin light chain, either kappa or lambda. Unifocal, monoclonal proliferation of plasma cells is called plasmacytoma. Hereby, we present a case of a 65-year-old female patient who presented with a swelling of the mandible. The uniform sheets of plasma cells in the histopathology punched out radiolucencies in skull radiograph and the blood picture of anemia and hypercalcemia, confirmed the case as MM.

Spastic quadriparesis caused by anomalous vertebral artery compression of spinal cord at the cervico-medullary junction.

Vascular compression of medulla or spinal cord at the cervico-medullary junction has been commonly described in the literature and is often attributed to dolichoectasia of the vertebrobasilar arteries. We describe a case of anomalous course of the cervical segments of the bilateral vertebral arteries which were seen entering the spinal canal directly after exiting the transverse foramen of axis and causing significant cord compression at the cervico-medullary region leading to spastic quadriparesis.

7-Deoxydaunomycinone quinone methide reactivity with thiol nucleophiles.

Under anaerobic conditions and with NADPH as a reducing agent, daunomycin is reduced in the presence of spinach ferredoxin: NADP+ oxidoreductase as the enzyme catalyst to its hydroquinone, from which intramolecular elimination of the C-7 glycoside proceeds to provide a quinone methide intermediate. This quinone methide is capable of bimolecular reaction with the thiolate nucleophiles N-acetyl-L-cysteine, N-(tert-butoxycarbonyl)-L-cysteine, and 1-thio-beta-D-glucose, providing a pair of C-7 diastereomers, when the reaction is carried out under the autocatalytic conditions offered by substoichiometric quantities of NADPH. With 0.4 equiv of NADPH, optimal yields of the adducts are obtained of approximately 65%. In each case, the 7S adduct is the major product, with the observed stereoselectivities (7S to 7R) ranging from 2.6 to 1 for N-acetyl-L-cysteine to 4 to 1 for both the N-(tert-butoxycarbonyl)-L-cysteine and 1-thio-beta-D-glucose as nucleophiles. By standard blocking and deblocking procedures, the complete set of complementary functionalized (7S)- and (7R)-N-acetyl and O-methyl 7-L-cysteinyl-7-deoxydaunomycinones is prepared. All efforts to extend this quinone methide trapping reaction to additional nucleophiles (such as I- or N3-), including the use of Fe(III) chelation, are unsuccessful. The Fe(III) chelate of daunomycin is however reduced by ferredoxin reductase and NADPH to the Fe(III) chelate of 7-deoxydaunomycinone, suggesting that quinone reduction of the chelate to the quinone methide has occurred. Of the new compounds prepared, only (7R)-7-S-(beta-D-glucopyranosyl)-7-thio-7-deoxydaunomycinone has biological activity. As an in vitro inhibitor of P388 cell growth, it has a 50% inhibitory concentration 25 times greater than that of daunomycin.

Synthesis and biological evaluation of a metazocine-containing enkephalinamide. Evidence for nonidentical roles of the tyramine moiety in opiates and opioid peptides.

In an effort to test the hypothesis that the tyramine moiety present in opiates and in opioid peptides plays an identical functional role at opioid receptors, a hybrid enkephalinamide (3) that contains (-)-metazocine (4a) in place of Tyr was synthesized. It was found that 3 and its congeners are inactive or feebly active in the electrically stimulated guinea pig ileum and mouse vas deferens preparations. The results of these studies suggest that the tyramine moiety in opiates and related structures does not play the same functional role as that in the opioid peptides. It is suggested that the different functional roles of the tyramine moiety in opiates and opioid peptides is a consequence of different modes of interaction with common receptors.