Exploring DNA barcode for accurate identification of threatened Aconitum L. species from Western Himalaya.

BACKGROUND: Aconitum species, belonging to Ranunculaceae, have high medicinal importance but due to their overexploitation come under IUCN (International Union for Conservation of Nature) red list. The precise identification of the Aconitum species is equally important because they are used in herbal formulations. The present study aimed to develop an efficient DNA barcode system for the authentic identification of Aconitum species. METHODS AND RESULTS: A set of 92 barcode gene sequences (including 12 developed during the present study and 80 retrieved from NCBI) of 5 Aconitum species (A. heterophyllum, A. vialoceum, A. japonicum, A. napellus, and A. stapfianum) were analyzed using three methods (tree-based, distance-based, and similarity-based) for species discrimination. The PWG-distance method was found most effective for species discrimination. The discrimination rate of PWG- distance ranged from 33.3% (rbcL + trnH-psbA) to 100% (ITS, rbcL + ITS, ITS + trnH-psbA and rbcL + ITS + trnH-psbA). Among DNA barcodes and their combinations, the ITS marker had the highest degree of species discrimination (NJ-40%, PWG-100% and BLAST-40%), followed by trnH-psbA (NJ-20%, PWG-60% and BLAST-20%). ITS also had higher barcoding gap as compared to other individual barcodes and their combinations. Further, we also analyzed six Aconitum species (A. balfourii, A. ferox, A. heterophyllum, A. rotundifolium, A. soongaricum and A. violaceum) existing in Western Himalaya. These species were distinguished clearly through tree-based method using the ITS barcode gene with 100% species resolution. CONCLUSION: ITS showed the best species discrimination power and was used to develop species-specific barcodes for Aconitum species. DNA barcodes developed during the present study can be used to identify Aconitum species.

Impact of COVID-19 Pandemic on Pathology Residents/Trainees in North America: A Survey-Based Study.

Background The COVID-19 pandemic has had a significant impact on resident training and education in the field of Pathology. This study aims to identify the tangible effects and resultant changes in education for Pathology trainees that have resulted from the pandemic. Design An electronic survey regarding Pathology trainee perceptions and experiences in relation to COVID-19 was created via Google Forms. The questionnaire was distributed to the pathology trainees via Twitter and email. The survey was also shared with all Pathology residency program coordinators across the USA and Canada. Results One hundred forty-five trainees responded to the questionnaire. 37.6% reported a significant decrease in specimen volume, whereas 43.3% reported a slight decrease in specimen volume. 18.3% reported the cancellation of educational lectures before shifting to a virtual platform for didactic purposes. However, 74.6% reported shifting all educational activities to virtual platforms. 35% cited cancellations of grand rounds, whereas 18.2% reported cancellations of grand rounds led by guest speakers. 53.5% took COVID-19 tests, and 22.7% were quarantined. 100% reported a change in sign-out culture. Conclusions This pandemic has significantly impacted pathology training in various aspects, including training, education, and well-being. Residents harbored anxiety and stress regarding board exam delays or uncertainties, inadequate exam preparation time, family separation, and compromised safety. The exact quantification of educational loss varied from program to program. A significant decrease in specimen volume and detrimental changes in sign-out culture are indicators of compromised resident education due to the pandemic. This pandemic has extended the use of digital pathology and virtual platforms to a higher extent. Free virtual educational resources provided by various pathology organizations were critically important interventions during this pandemic, contributing to resident education. The pandemic has shown that developing a comprehensive infrastructure to overcome the loss of educational opportunities is of paramount importance to alleviate stress and anxiety among trainees.

Reticuloendothelial activation and phenotypic alteration of peripheral monocytes with enhanced liver recruitment drive liver injury secondary to yellow phosphorus.

BACKGROUND AND AIM: Monocytes and macrophages play a crucial role in the pathogenesis of acute liver failure (ALF). We aimed to study reticuloendothelial activation and its correlation with disease severity in commonly encountered yellow phosphorus (rodenticide)-induced hepatotoxicity patients. We also studied peripheral monocyte phenotype in a subset of patients. METHODS: Reticuloendothelial activation markers were analyzed and correlated with disease severity score in a prospectively collected database of yellow phosphorus-related hepatoxicity patients between 2018 and 2021. In a prospective cohort of these patients and age-matched healthy controls, peripheral blood monocyte phenotyping was performed. RESULTS: Reticuloendothelial activation markers were analyzed in 67 patients [Age: 23(12-64) years; median (range), men: 25, acute liver injury (ALI): 38, ALF: 29, model for end-stage liver disease (MELD) score: 28 (7-40)] of yellow phosphorus-induced hepatotoxicity. Serum ferritin (927; 10.3-34 807 ng/mL), sCD163 (4.59; 0.11-12.7 µg/mL), sCD25 (3050; 5.6-17 300 pg/mL) and plasma von Willebrand factor (423.5, 103-1106 IU/dL) were increased and showed significant correlation with liver disease severity assessed by MELD score (ρ = 0.29, ρ = 0.6, ρ = 0.56 and ρ = 0.46 respectively). Phenotyping and serum immune markers were performed in seven patients (M: 4; age: 27, 15-37 years; median, range; MELD score: 36, 21-40) and compared with eight healthy controls. Increase in classical monocytes and decrease in patrolling and intermediate monocyte subsets were observed in ALF cohort. HLA-DRlow CD163hi (immune exhaustion), CD64hi (immune complex-mediated response), and CCR2hi (liver homing) monocyte phenotype was noted. CONCLUSION: Altered peripheral monocyte phenotype with enhanced liver homing and macrophage activation, suggests important role of innate immune activation, and provides a potential therapeutic target, in yellow phosphorus-induced hepatotoxicity.

Effectiveness of electrical vestibular nerve stimulation on the range of motion in patients with Parkinson's disease.

OBJECTIVES: The present study was undertaken to observe the effectiveness of electrical vestibular stimulation on the range of motion (ROM) in patients with Parkinson's disease (PD). METHODS: The present study was a randomized controlled trial (ClinicalTrials.gov Identifier: NCT04450550). The study participants were assessed at three points of time. After recording baseline cognitive functions, electrical vestibular nerve stimulation was administered to the intervention group and placebo stimulation was administered to the control group for 12 weeks. Post-intervention parameters were recorded after 6 weeks and after 12 weeks after the intervention in both control and intervention groups. A total of 30 cases of PD, including both males and females were recruited in the study by convenient sampling after obtaining written informed consent. All ROM and flexibility measurements were recorded using a universal goniometer and standard protocol with help of an experienced physiotherapist at our hospital. RESULTS: There was a significant improvement in the hip internal and external rotation right and left sides. There was a significant improvement in the hip extension right and left. There was a significant improvement in the ankle plantarflexion left and ankle dorsiflexion right and left followed by the intervention. There was a significant decline in the hip internal rotation on right and left sides. There was a significant decline in the hip extension and ankle dorsiflexion on the left side. CONCLUSIONS: The study results confirm the improvement of motor activities of patients with PD followed by vestibular stimulation. Further detailed studies are recommended to support the application of vestibular stimulation as an alternative therapy in the management of motor functions in patients with PD.

Development of EST-based methylation specific PCR (MSP) markers in Crocus sativus.

BACKGROUND: Saffron (Crocus sativus) is high valued spice crop, but due to its sterile nature, the crop is propagated exclusively through corms. Thus, the genetic base of this crop is very narrow, however, frequency of phenotypic variability is observed; and suggested the potential role of epigenetics in saffron crop growth and development. METHODS AND RESULTS: To facilitate epigenetic studies in saffron, we developed 1525 methylation-specific PCR (MSP) markers using MethPrimer. For this purpose, we used 6767 EST sequences of saffron available on the NCBI database. We also mine CpG islands (2555) and found that 32.7% of EST sequences had CpG islands. Out of 1525 MSP markers developed during the present study, 725 covered the CpG islands and 800 were without CpG islands. PCR amplification was found successful for 82% of MSP markers. A preliminary analysis suggested that 53.7% of genomic sites were methylated and more prominent (60% methylations) in non-CpG island regions, although, more comprehensive studies are required to validate it further. CONCLUSIONS: The epigenetic resource developed during the present study will strengthen the epigenetic studies like epiQTL mapping, epiGWAS to explore the molecular mechanisms and genomic/epigenomic regions associated with phenotype; and further may be utilized for saffron improvement programs through epibreeding.

Prevalence of Dental Caries With Salivary Assessment in Six to Twelve Years Old School-Going Children in Shahpura Tehsil, Jaipur.

Introduction Dental caries is a chronic, infectious, and irreversible disease of the calcified tissues of teeth, which demineralises the inorganic portion and destroys the organic substance of the tooth, which often leads to cavitation. Epidemiological studies measuring the prevalence and severity of dental caries have used modified versions of Klein and colleagues' decayed, missing, and filled (DMF) or Gruebbel's decayed, extraction indicated, and filled (def) indexes; however, these indexes only capture cavitated lesions. Saliva plays a vital role in caries prevention; significant reduction or deterioration of salivary function can aggravate the development of dental caries. Saliva affects the incidence of dental caries in four ways: as a mechanical cleansing agent that results in less accumulation of plaque, by reducing enamel solubility using calcium, phosphate, and fluoride, by buffering and neutralising the acids produced by cariogenic organisms, or by introducing directly through diet and by antibacterial activity. The study aims to assess the prevalence of dental caries and salivary parameters such as salivary pH, flow, and buffering capacity in six to 12 years old children of a rural tehsil of Jaipur. Materials and methods The study was done on a population consisting of 400 school-going children in the age group of six to 12 years. Oral examination was undertaken by a single examiner, who is the study's principal investigator, to avoid inter-examiner variability. Testing of resting saliva was done for evaluation of visual inspection of the level of hydration, saliva consistency, pH measurement, saliva quantity, and buffering capacity. Statistical analysis The data were analysed using the chi-square test, t-test, and statistical software SPSS version 17.00 (SPSS Inc., Chicago, IL). The chi-square test was used to compare and analyse qualitative data, whereas the unpaired t-test was used to analyse and compare quantitative data. Quantitative data were summarised as mean and standard deviation. A p-value of 0.001 or less was considered for standard significance. Results There was no significant difference in resting salivary flow rate between children with decayed, missing, and filled teeth (DMFT) scores less than 5 and DMFT scores of 5. The mean buffering capacity of stimulated saliva was found to be significantly more among children with DMFT scores less than 5 than children with DMFT scores of 5 or more. The mean pH of resting saliva was found to be significantly higher among children with DMFT scores less than 5 than children with DMFT scores of 5 or more. Conclusion The prevalence of caries based on age was maximum in mixed dentition and minimum in primary dentition. In contrast, the difference in severity based on age was maximum in permanent dentition. The prevalence of caries was higher in children whose parents were aware of dental health; the difference was more significant in children with primary and mixed dentition. This study showed that salivary parameters such as salivary flow rate, salivary pH, and salivary buffering capacity among school-going children correlated with the prevalence of caries.

Effectiveness of electrical vestibular nerve stimulation as adjunctive therapy to improve the cognitive functions in patients with Parkinson's disease.

OBJECTIVES: The present study was undertaken to observe the effectiveness of electrical vestibular stimulation in improving cognitive functions in patients with Parkinson's disease. METHODS: Randomized controlled trial (ClinicalTrials.gov Identifier: NCT04450550). 30 cases of PD, including both males and females were recruited in the study by convenient sampling after obtaining written informed consent. After recruiting, the participants were randomly assigned into two groups. The control group (n=15) received placebo stimulation whereas the intervention group (n=15) received electrical vestibular stimulation administered for 12 weeks. Auditory, visual reaction time and spatial and verbal memory were recorded before and after 6 weeks and after 12 weeks of intervention and compared. RESULTS: There was a significant improvement in both auditory and visual reaction time of right and left-hand responses. Also, significant improvement was observed in both the spatial and verbal memory of the patients. CONCLUSIONS: There was a significant improvement in the auditory and visual reaction time and spatial and verbal memory in the participants after the electrical vestibular nerve stimulation administration. No side effects were reported by the study participants and they have expressed willingness to continue the intervention after the study period also. The study recommends further detailed studies with a higher sample size to adopt electrical vestibular nerve stimulation as adjunctive therapy in the management of Parkinson's disease.

Preexisting respiratory diseases and clinical outcomes in COVID-19: a multihospital cohort study on predominantly African American population.

BACKGROUND: Comorbidities play a key role in severe disease outcomes in COVID-19 patients. However, the literature on preexisting respiratory diseases and COVID-19, accounting for other possible confounders, is limited. The primary objective of this study was to determine the association between preexisting respiratory diseases and severe disease outcomes among COVID-19 patients. Secondary aim was to investigate any correlation between smoking and clinical outcomes in COVID-19 patients. METHODS:  This is a multihospital retrospective cohort study on 1871 adult patients between March 10, 2020, and June 30, 2020, with laboratory confirmed COVID-19 diagnosis. The main outcomes of the study were severe disease outcomes i.e. mortality, need for mechanical ventilation, and intensive care unit (ICU) admission. During statistical analysis, possible confounders such as age, sex, race, BMI, and comorbidities including, hypertension, coronary artery disease, congestive heart failure, diabetes, any history of cancer and prior liver disease, chronic kidney disease, end-stage renal disease on dialysis, hyperlipidemia and history of prior stroke, were accounted for. RESULTS:  A total of 1871 patients (mean (SD) age, 64.11 (16) years; 965(51.6%) males; 1494 (79.9%) African Americans; 809 (43.2%) with ≥ 3 comorbidities) were included in the study. During their stay at the hospital, 613 patients (32.8%) died, 489 (26.1%) needed mechanical ventilation, and 592 (31.6%) required ICU admission. In fully adjusted models, patients with preexisting respiratory diseases had significantly higher mortality (adjusted Odds ratio (aOR), 1.36; 95% CI, 1.08-1.72; p = 0.01), higher rate of ICU admission (aOR, 1.34; 95% CI, 1.07-1.68; p = 0.009) and increased need for mechanical ventilation (aOR, 1.36; 95% CI, 1.07-1.72; p = 0.01). Additionally, patients with a history of smoking had significantly higher need for ICU admission (aOR, 1.25; 95% CI, 1.01-1.55; p = 0.03) in fully adjusted models. CONCLUSION:  Preexisting respiratory diseases are an important predictor for mortality and severe disease outcomes, in COVID-19 patients. These results can help facilitate efficient resource allocation for critical care services.

Experience of Elderly People Regarding the Effect of Yoga/Light Exercise on Sedentary Behavior: A Longitudinal Qualitative Study in Madhya Pradesh, India.

This study is set on the background of a randomized control trial (RCT) in which intervention was carried to observe the effects of yoga/light exercise on the improvement in health and well-being among the elderly population. A longitudinal qualitative study was conducted as part of RCT interventions to explore the experience of the elderly practicing yoga/light exercise in relation to sedentary behavior in the Ujjain district of Madhya Pradesh, India. Participants of the RCT were selected for this study. Eighteen focus group discussions were conducted-six during each phase of RCT interventions (before, during, and after). The findings regarding motivating and demotivating factors in various phases of intervention were presented in three categories: experience and perception of the effects of yoga/light exercise on sedentary behavior (1) before, (2) during, and (3) after intervention. This study explores the positive effect of yoga/light exercise on sedentary behavior and subjective well-being on the elderly population. They were recognized to have undergone changes in their physical and emotional well-being by consistently practicing yoga/light exercise. The main driving factors were periodic health check-ups and the encouragement of qualified trainers without any cost. This study concludes with the notion that these interventions should be encouraged in the community to use physical exercise as a method to better control the physical and social effects of aging.

Effect of Yoga versus Light Exercise to Improve Well-Being and Promote Healthy Aging among Older Adults in Central India: A Study Protocol for a Randomized Controlled Trial.

BACKGROUND: Aging is a natural process associated with many functional and structural changes. These changes may include impaired self-regulation, changes in tissues and organs. Aging also affects mood, physical status and social activity. There are adverse changes in cognitive behavior, perceived sensation and thinking processes. Regular physical activity can alleviate many health problems; yet, many older adults are inactive. Yoga is one of the scientific and popular lifestyle practice considered as the integration of mind, body and soul. Results of previous studies reported positive effects of yoga on multiple health outcomes in elderly. However, there is scarcity of scientific information where yoga's effect is examined on over well-being and on multiple health outcomes simultaneously in elderly. This protocol describes methods for a 12-week yoga-based intervention exploring the effects of yoga on well-being in physically inactive elderly living in community. Methods and analysis: This two group parallel single blind randomized controlled trial that will be conducted at a designated facility of R.D. Gardi Medical College, Ujjain, Madhya Pradesh, Central India. A 12-week 60-min yoga intervention three times weekly is designed. Comparison group participants will undergo a 60-min program comprising light exercise focusing on conventional stretching to improve mobility. After screening, 144 participants aged 60-80 years will be recruited. The primary outcome is subjective well-being. Secondary outcomes include mobility, fall risk, cognition, anxiety and depression, mood and stress, sleep quality, pain, physical activity/sedentary behavior and cardio-metabolic risk factors. Assessments will be conducted at baseline (0 week), after the intervention (12+1 week) and at follow-up (36+1 week). Intention-to-treat analyses with mixed linear modeling will be applied. DISCUSSION: Through this trial, we aim to determine whether elderly people in the intervention group practicing yoga show more favorable primary (well-being) and secondary outcomes than those in the light exercise focusing on conventional stretching group. We assume that yoga may be practiced to maintain health, reduce particular symptoms commonly associated with skeletal pain, assist in pain relief and enhance well-being. We anticipate that practicing yoga will improve well-being and mental health and may lead to significant improvement in depression, pain and sleep quality.Ethics and dissemination: This study is approved by the Institutional Ethics Committee of R.D. Gardi Medical College, Ujjain, IEC Ref No. 09/2018. All participants would be provided with written and verbal information about the purpose of the project and would be free to withdraw from the study at any time. Refusal to participate in the study would not have any negative consequences. Confidentiality of the information of each participant would be ensured. Knowledge obtained would be disseminated to stakeholders through workshops, meetings and relevant scientific conferences. TRIAL REGISTRATION: The trial is prospectively registered with the Indian Council of Medical Research Trial Registry CTRI/2018/07/015051.

Effects of yoga on well-being and healthy ageing: study protocol for a randomised controlled trial (FitForAge).

INTRODUCTION: Due to ageing populations worldwide, the burden of disability is increasing. It is therefore important to develop interventions that improve healthy ageing, reduce disability onset and enhance life quality. Physical activity can promote healthy ageing and help maintain independence, yet many older adults are inactive. Yoga is a form of physical activity that aims to improve health and may be particularly suitable for older adults. Research indicates positive effects of yoga on several health-related outcomes; however, empirical studies examining the benefits of yoga on well-being among the elderly remain scarce. This study protocol reports the methodology for a 12-week yoga programme aimed to improve health and well-being among physically inactive older adults. METHODS AND ANALYSIS: Three group parallel, single-blind randomised controlled trial. Two comparison groups are included: aerobic exercise and a non-active wait-list control. In total, 180 participants aged 65-85 years will be recruited. Assessments will be performed at baseline and postintervention (12-week follow-up). The primary outcome is subjective well-being. Secondary outcomes include physical activity/sedentary behaviour, mobility/fall risk, cognition, depression, anxiety, mood, stress, pain, sleep quality, social support and cardiometabolic risk factors. Data will be analysed using intention-to-treat analyses, with mixed linear modelling. ETHICS AND DISSEMINATION: This study is approved by the Ethical Review Board in Stockholm (2017/1862-31/2). All participants must voluntarily agree to participate and are free to withdraw from the study at any point. Written informed consent will be obtained from each participant prior to inclusion. Results will be available through research articles and conferences. A summary of key results will be publicly available through newspaper articles. TRIAL REGISTRATION NUMBER: DRKS00015093, U1111-1217-4248.

Schmid Type Metaphyseal Chondrodysplasia with a Novel COL10A1 Mutation.

Schmid type metaphyseal chondrodysplasia (SMCD) is a rare skeletal dysplasia, characterized by short stature, short limbs, bowing of the legs, and radiographic features of metaphyseal irregularities with fraying and splaying, more severe at the knee. It is caused by mutations of the COL10A1 gene. The authors present an Indian patient with a novel COL10A1 gene mutation.

Phase II Study of Irinotecan Plus Panitumumab as Second-Line Therapy for Patients with Advanced Esophageal Adenocarcinoma.

LESSON LEARNED: Panitumumab plus irinotecan is not active for the treatment of esophageal adenocarcinoma. BACKGROUND: Esophageal adenocarcinoma (EAC) is a lethal cancer with increasing incidence. Panitumumab (Pa) is a fully humanized IgG2 monoclonal antibody against human EGFR. Cetuximab (Cx) combined with irinotecan (Ir) is active for second-line treatment of colorectal cancer. This phase II study was designed to evaluate Pa plus Ir as second-line therapy for advanced EAC. METHODS: The primary endpoint was response rate (RR). Patients with one prior treatment were given Pa 9 mg/m2 on day 1 and Ir 125 mg/m2 on days 1 and 8 of each 21-day cycle. Inclusion criteria were confirmed EAC, measurable disease, no prior Ir or Pa, performance status <2, and normal organ function. RESULTS: Twenty-four patients were enrolled; 18 were eligible and evaluable. These patients were all white, with a median age of 62.5 years (range, 33-79 years), and included 15 men and 3 women. The median number of cycles was 3.5. The most common grade 1-2 adverse events were fatigue, diarrhea, anemia, leukopenia, and hypoalbuminemia. Grade 3-4 adverse events included hematologic, gastrointestinal, electrolyte, rash, fatigue, and weight loss. The median follow-up was 7.2 months (range, 2.3-14 months). There were no complete remissions. The partial response rate was 6% (1/18; 95% confidence interval [CI], 0.01-0.26). The clinical benefit (partial response [PR] plus stable disease [SD]) rate was 50%. The median overall survival was 7.2 months (95% CI, 4.1-8.9) with an 11.1% 1-year survival rate. The median progression-free survival was 2.9 months (95% CI, 1.6-5.3). CONCLUSION: Irinotecan and panitumumab as second-line treatment for advanced EAC are not active.

Childhood epilepsy and ADHD comorbidity in an Indian tertiary medical center outpatient population.

This study aimed to assess the prevalence of Attention Deficit Hyperactivity Disorder (ADHD) and its characteristics and risk factors in children with epilepsy at a tertiary medical center in New Delhi. Children with active epilepsy, aged 6 to 12 years, were assessed for ADHD using DSM-IV-TR criteria. Epilepsy and psychiatric characteristics, sociodemographic indicators, and use of antiepileptic drugs were analyzed for differences between the ADHD and non-ADHD groups. Among the 73 children with epilepsy, 23% (n = 17) had comorbid ADHD, of whom 59% (n = 10) had predominantly inattentive type, 35% (n = 6) combined type, and 6% (n = 1) predominantly hyperactive-impulsive type. Lower IQ scores, epileptiform EEG activity, not attending school, and male sex were significantly associated with comorbid ADHD in children with epilepsy. Groups were similar in terms of age, socioeconomic indicators, family history of psychiatric disorders, seizure frequency in the last six months, seizure etiology, and seizure type. Epilepsy is a common pediatric neurological condition with frequent psychiatric comorbidities, including ADHD. Specialists should collaborate to optimize treatment for children with epilepsy and ADHD, especially for families in developing countries where the burden of disease can be great.

Subjective Global Nutritional Assessment: A Reliable Screening Tool for Nutritional Assessment in Cerebral Palsy Children.

OBJECTIVE: To determine the prevalence of undernutrition in children with cerebral palsy and to compare subjective and objective methods of nutritional assessment. METHODS: This was a hospital based analytical observational study in which 180 children of cerebral palsy, aged 1-12 y, attending tertiary level hospital, Jaipur from March, 2012 through March, 2013 were included. Subjective assessment was done by questionnaire (Subjective Global Nutritional Assessment; SGNA) in which questions related to nutrition history and physical examination, signs of fat, muscle wasting and edema was done while objective assessment was done by weight, height and triceps skinfold thickness (TSFT) measurements. RESULTS: In this study prevalence of undernutrition by subjective method (SGNA) was 76.67% while by objective measurement (weight, height, TSFT) was 48.89%, 77.78% 35.18% respectively. There was fair to moderate agreement between the SGNA and objective assessments including weight and height (k = 0.341, p = 0.000; k = 0.337, p = 0.000 respectively) while for TSFT agreement between both methods was poor (k = 0.092, p = 0.190). In the index study, sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of SGNA was for weight was 95%, 37%, 56%, 90%; for height 84%, 50%, 85%, 47%; for TSFT 81%, 30%, 38%, 75% respectively. CONCLUSIONS: The prevalence of undernutrition is high in cerebral palsy children. SGNA can be a reliable tool for assessing nutritional status in children with cerebral palsy and is a simple, comprehensive, noninvasive, and cost-effective tool for screening undernutrition in children of cerebral palsy.

A Neonate with X-linked Lissencephaly with Ambiguous Genitalia.

X-linked lissencephaly with ambiguous genitalia is a rare and recently described syndrome. We report a neonate presenting with the classical features of the syndrome which includes lissencephaly, agenesis of the corpus callosum, intractable epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. The baby was managed aggressively with antiepileptics. Early clinical suspicion of the syndrome can prevent future such occurrences in the family through genetic counseling.

Lactate clearance as the predictor of outcome in pediatric septic shock.

CONTEXT: Septic shock can rapidly evolve into multiple system organ failure and death. In the recent years, hyperlactatemia has been found to be a risk factor for mortality in critically ill adults. AIMS: To evaluate the predictive value of lactate clearance and to determine the optimal cut-off value for predicting outcome in children with septic shock. SETTINGS AND DESIGN: A prospective observational study was performed on children with septic shock admitted to pediatric Intensive Care Unit (PICU). SUBJECTS AND METHODS: Serial lactate levels were measured at PICU admission, 24 and 48 h later. Lactate clearance, percent decrease in lactate level in 24 h, was calculated. The primary outcome measure was survival or nonsurvival at the end of hospital stay. We performed receiver operating characteristic analyses to calculate optimal cut-off values. RESULTS: The mean lactate levels at admission were significantly higher in the nonsurvivors than survivors, 5.12 ± 3.51 versus 3.13 ± 1.71 mmol/L (P = 0.0001). The cut-off for lactate level at admission for the best prediction of mortality was determined as ≥4 mmol/L (odds ratio 5.4; 95% confidence interval [CI] =2.45-12.09). Mean lactate clearance was significantly higher in survivors than nonsurvivors (17.9 ± 39.9 vs. -23.2 ± 62.7; P < 0.0001). A lactate clearance rate of <10% at 24 h had a sensitivity and specificity of 78.7% and 72.2%, respectively and a positive predictive value of 83.1% for death. Failure to achieve a lactate clearance of more than 10% was associated with greater risk of mortality (likelihood ratio + 2.83; 95% CI = 1.82-4.41). CONCLUSIONS: Serial lactate levels can be used to predict outcome in pediatric septic shock. A 24 h lactate clearance cut-off of <10% is a predictor of in-hospital mortality in such patients.

Gomez-Lopez-Hernández syndrome: First reported case from the Indian subcontinent.

Gomez-Lopez-Hernández syndrome (GLHS) is a rare neurocutaneous syndrome characterized by a triad of findings: partial alopecia of the scalp, trigeminal anaesthesia, and rhombencephalosynapsis. GLHS is also known as cerebello-trigeminal-dermal dysplasia. Besides this triad, a number of varying traits have been described in 35 previously reported cases. Reported here is a case of a four-year-old boy, born out of consanguineous marriage, presenting with the classic triad of findings, i.e. partial alopecia of the scalp, trigeminal anaesthesia, and rhombencephalosynapsis. To the extent known, this is the first case of GLHS reported from India. If a child presents with alopecia and rhom-bencephalosynapsis, GLHS should be considered in the differential diagnosis. A host of studies can be used to determine the exact pathogenesis, and confirming the diagnosis of GLHS is an important step in prenatal testing for at-risk pregnancies.

Peripheral neuropathy in children on stauvudine therapy.

OBJECTIVE: To assess the prevalence of peripheral neuropathy in HIV infected children (>5 y) receiving stavudine-based combination anti-retroviral treatment (ART) for more than 3 mo in a cross-sectional study. METHODS: History, detailed neurological examination and nerve conduction studies were performed. RESULTS: Forty children [26 boys; median age - 11.75 y, Inter quartile range (IQR): 9-16 y] were enrolled. The median duration of ART was 43 mo [IQR: 18-69 mo]. The nerve conduction studies were abnormal in four children (10 %). Symptomatic distal sensory polyneuropathy was present in two children, asymptomatic distal sensory polyneuropathy and subclinical distal sensory polyneuropathy was present in one child each. CONCLUSIONS: Distal sensory polyneuropathy is a potential problem in children on stavudine based ART. Children on stavudine based ART need periodic clinical and electrophysiological screening for its early detection.