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Mariam SalariaSchool of Medicine, University of Liverpool, Liverpool, UKI read with great interest the article by Inra et al,1 regarding an active learning curriculum, to improve knowledge and teaching skills. Having completed four years at Liverpool Medical School, I agree that an active learning curriculum is both stimulating and productive for medical students. The article states that an active learning curriculum is preferred by Gastroenterology Fellows and may be helpful for improving transmission of information, in any specialty. Therefore, active learning could perhaps be applicable for students and influence future curriculums. View the original paper by Inra and colleagues

Mariam Salaria, Tobi Oyewole, Sundes ShahUniversity of Liverpool, School of Medicine, Liverpool, UKWe read with great interest the article by Ginzburg et al,1 regarding small group simulation with debrief, for first and second year medical students. Having completed four years at Liverpool Medical School, we agree that small group simulation assists in consolidating the knowledge of basic sciences. The article states that the majority of students agree that simulation followed by a debrief, illustrated the clinical relevance of basic sciences. What is more, students felt that these practices provided chances for direct application of scientific knowledge, as well as simulating real world experience. The development of clinical reasoning was also noted, and as medical students ourselves, we agree that this aspect is cemented by simulation scenarios.View the original paper by Ginzburg and colleagues.

Background and Objective: β-thalassemia is a common problem among the haemoglobinopathies in Pakistan, with a high carrier rate. Consangious marriages are increasing the problem every year. Awareness and counselling is essential to check the problem. The present study was designed to determine the frequency of β-thalassemia carriers in healthy population from Muzaffarabad Azad Jammu and Kashmir. In this cross - sectional population based study, people from Muzaffarabad were motivated to get themselves tested for beta thalassemia trait. Methods: People found healthy on basis of a questionnaire and clinical examination were included in the study. Complete blood counts and peripheral smear reviews were performed on EDTA samples. Hemoglobin (Hb) electrophoresis was performed. Subjects with mean corpuscular volume (MCV), 76 fl, mean corpuscular Hb (MCH), 27 pg were subjected to HbA2 level estimation by elution method. Hemoglobin A2 of more than 3.5% was considered diagnostic for beta-thalassemia trait. Azad Jammu and Kashmir is a territory with considerable ethnic heterogeneity. This is basically a tribal society with a high proposition of consanguineous marriages. We created awareness among the general population. Conclusion: Using strict criteria for healthy population, we conclude that incidence of thalassemia trait is 5.6% in our study population. β-thalassemia trait is present in almost all ethnic groups. To control thalassemia major, Screening program for thalassemia carriers must be initiated in the area. [ABSTRACT FROM AUTHOR]

Hyperimmunoglobulin E (HIE) syndrome is a primary immunodeficiency disorder characterized by recurrent bacterial infections in presence of very high serum Ig E levels. We are reporting a nine-year-old child with HIE syndrome and reviewing literature on this disease. [ABSTRACT FROM AUTHOR]

Brucellosis is a rare disease in children. Lung involvement is an uncommon presentation of brucellosis. The authors are presenting a child with brucellosis, who presented with predominant pulmonary involvement. It was an eight-year-old child who was referred to us a case of non-resolving pneumonia. Brucella agglutination test was suggestive of brucellosis. He responded to the combination of doxycycline and rifampicin. [ABSTRACT FROM AUTHOR]

Neonatal parotitis is a rare condition. Infection of the parotid glad is more common than that of the submandibular glad. Dehydration is the most important predisposing factor for this. Most common organism responsible for this condition is Staphylococcus aureus. Untreated condition can lead to various complications. [ABSTRACT FROM AUTHOR]

Objective/design: Pediatric meningitis is characterized by a colossal inflammatory response to the pathogen in the central nervous system (CNS). This unabated inflammatory response persists even after the removal of the pathogen by antibiotics/steroids causing collateral damage to CNS tissue. Toll-like receptors (TLRs) are the key players in the recognition and elicitation of innate-immune response against bacterial/viral components in cerebrospinal fluid (CSF). Till date, the precise understanding of TLR-triggered inflammatory response in pediatric meningitis is lacking. The present study was designed to delineate the role of TLR transcriptome and downstream signaling pathways in CSF of pediatric meningitis., Methods: Children in the age group of > 3 months to 12 years with pediatric meningitis were included. A total of 249 cases of pediatric meningitis (bacterial = 89, viral = 160) were included. In addition, 71 children who tested negative to the pathogen in CSF tap and did not have signs of infection clinically constituted the controls. RNA was extracted from the CSF samples of both cases and controls. The relative gene expression profile of 42 TLR signaling pathway genes was performed. For the analysis of secretory cytokines and chemokines in CSF, Luminex assay was performed., Results: We report global upregulation of TLR genes in patients with acute bacterial meningitis (ABM). The downstream signaling molecules were upregulated as well. The CSF of pediatric ABM patients revealed a predominant pro-inflammatory milieu marked by increased levels of pro-inflammatory cytokines. A significant correlation between poor clinical outcomes of patients and an increased expression of TLR/pro-inflammatory cytokine genes was observed., Conclusion: Our findings provide support for future studies exploring TLR-based adjunct therapy to limit the neurological sequelae, owing to persistent inflammation in pediatric ABM patients., (© 2022. The Author(s), under exclusive licence to Springer Nature Switzerland AG.)

Goldenhar syndrome or oculo-auriculo-vertebral spectrum (OAVS) is a complex developmental disorder characterized by asymmetric ear anomalies, hemifacial microsomia, ocular and vertebral defects. We aimed at identifying and characterizing a new gene associated with OAVS. Two affected brothers with OAVS were analyzed by exome sequencing that revealed a missense variant (p.(Asn358Ser)) in the EYA3 gene. EYA3 screening was then performed in 122 OAVS patients that identified the same variant in one individual from an unrelated family. Segregation assessment in both families showed incomplete penetrance and variable expressivity. We investigated this variant in cellular models to determine its pathogenicity and demonstrated an increased half-life of the mutated protein without impact on its ability to dephosphorylate H2AFX following DNA repair pathway induction. Proteomics performed on this cellular model revealed four significantly predicted upstream regulators which are PPARGC1B, YAP1, NFE2L2 and MYC. Moreover, eya3 knocked-down zebrafish embryos developed specific craniofacial abnormalities corroborating previous animal models and supporting its involvement in the OAVS. Additionally, EYA3 gene expression was deregulated in vitro by retinoic acid exposure. EYA3 is the second recurrent gene identified to be associated with OAVS. Moreover, based on protein interactions and related diseases, we suggest the DNA repair as a key molecular pathway involved in craniofacial development.

Background: First Zika virus (ZIKV) positive case from North India was detected on routine surveillance of Dengue-Like Illness in an 85-year old female. Objective of the study was to conduct an investigation for epidemiological, clinical and genomic analysis of first ZIKV outbreak in Rajasthan, North India and enhance routine ZIKV surveillance., Method: Outbreak investigation was performed in 3 Km radius of the index case among patient contacts, febrile cases, and pregnant women. Routine surveillance was enhanced to include samples from various districts of Rajasthan. Presence of ZIKV in serum and urine samples was detected by real time PCR test and CDC trioplex kit. Few ZIKV positive samples were sequenced using the next-generation sequencing method for genomic analysis., Result: On outbreak investigation 153/2043 (7.48%) cases were found positive: 1/153 (0.65%) among contacts, 90/153 (58.8%) in fever cases, 62/153(40.5%) in pregnant females. In routine surveillance, 6/4722 (0.12%) serum samples were ZIKV positive.Majority of patients had mild signs and symptoms, no case of microcephaly and Guillain- Barre Syndrome was seen, 25 (40.3%) pregnant females delivered healthy babies, four (6.4%) reported abortion and three (4.8%) had intrauterine death, one (1.6%) child had colorectal malformation and died after few days of birth. ZIKV was found to belong to Asian lineage, mutation related to enhanced neuro-virulence and transmission in animal models was not found., Conclusion: ZIKV was endogenous to India belonging to Asian Lineage. Disease profile of the ZIKV was asymptomatic to mild. No major anomaly was observed in infants born to ZIKV positive mothers; however, long term follow up of these children is required. There is need to scale up surveillance in the virology lab network of India for early detection and control., Summary Line: Zika virus infection was endogenous due to Asian Lineage with mild disease, no case of microcephaly or Guillain- Barre Syndrome was seen but children need to be followed for anomalies and surveillance of ZIKV needs to be enhanced in the country., (Copyright © 2020 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Background and Purpose: Haemophilus influenzae type b (Hib) infection occurs mostly in children and is transmitted from person to person through the respiratory pathway. Hib strain is associated with meningitis or encephalitis. It is not an uncommon infection, particularly, in the developing world. This prospective cohort study was done with the aim of describing imaging findings in patients with Hib meningoencephalitis., Materials and Methods: In a prospective cohort study, consecutive children admitted in the pediatric emergency unit with acute febrile encephalopathy were enrolled. The clinical details, CSF analysis, and microbiological and serological investigations were recorded on a case record proforma. Children with confirmed Hib meningoencephalitis were included in this study. Clinicoradiological features were assessed., Results: A total of 16 patients with acute febrile encephalopathy, in whom CSF latex agglutination, CSF culture, or CSF multiplex PCR were positive for H. influenzae were included in this study. All these children were investigated with magnetic resonance imaging (MRI) brain. Important imaging findings were meningitis, predominantly around frontoparietal lobes (43%), cerebritis (28%), ventriculitis (14%), and subdural collections (21.5%). One patient had features consistent with acute disseminated encephalomyelitis (ADEM) while four patients had normal MRI scan., Conclusions: H. influenzae is still a common cause of meningitis in infants and children in the developing world. We have tried to study the most common MRI features associated with Hib infection to help radiologists alert the treating clinicians to further investigate these patients for appropriate prognostication., Competing Interests: The authors declare that they have no conflict of interest., (Copyright: © 2006 - 2020 Annals of Indian Academy of Neurology.)

Objectives: To evaluate the effect of probiotics on cytokines in children with severe sepsis., Design: Randomized, double-blind, placebo-controlled trial., Setting: ICU of a tertiary care teaching hospital in North India., Patients: Children 3 months to 12 years old with severe sepsis., Interventions: Enrolled children were randomized to probiotic (n = 50) and placebo (n = 50) groups. Probiotic group received VSL#3 (Danisco-Dupont USA, Madison, WI) (Lactobacillus paracasei, L. plantarum, L. acidophilus, L. delbrueckii, Bifidobacterium longum, B. infantis, B. breve, Streptococcus salivarius; maltose and silicon dioxide), and placebo group received maltose and silicon dioxide. Dose was 1 sachet twice daily for 7 days. Blood was collected on days 1 and 7 for estimation of interleukin-6, interleukin-12p70, interleukin-17, tumor necrosis factor-α, interleukin-10, and transforming growth factor -β1. "Primary outcome": Change in cytokine levels in probiotic and placebo groups from day 1 to 7. "Secondary outcomes": Sequential Organ Failure Assessment score, healthcare-associated infections, ICU stay, and mortality., Measurements and Main Results: On day 7, probiotic group had significantly lower levels of proinflammatory cytokines (interleukin-6 [80 vs 186 pg/mL, p = 0.001]; interleukin-12p70 [44 vs 79 pg/mL, p = 0.001]; interleukin-17 [217 vs 293 pg/mL, p = 0.01]; and tumor necrosis factor-α [192 vs 348 pg/mL, p = 0.01]) and higher levels of antiinflammatory cytokines (interleukin-10 [320 vs 240 pg/mL, p = 0.02] and transforming growth factor-β1 [311 vs 221 ng/mL, p = 0.01]) than placebo group. From day 1 to 7, probiotic group showed significant decrease in proinflammatory cytokines (interleukin-6 [196-80 pg/mL, p = 0.001]; interleukin-12p70 [71-44 pg/mL, p = 0.01]; interleukin-17 [258-217 pg/mL, p = 0.01]; and tumor necrosis factor-α [347-192 pg/mL, p = 0.001]) and increase in antiinflammatory cytokines (interleukin-10 [198-320 pg/mL, p = 0.001] and transforming growth factor-β1 [216-311 ng/mL, p = 0.001]) as compared to placebo group. Sequential Organ Failure Assessment score on day 7 was significantly less in probiotic group (1 vs 3). There was a nonsignificant trend toward lower incidence of healthcare-associated infections (14% vs 20%) and duration of ICU stay (6.5 vs 9 d) in probiotic group. Mortality was similar in two groups., Conclusions: Probiotics supplementation for 7 days resulted in significant decrease in proinflammatory and increase in antiinflammatory cytokines in children with severe sepsis.

Objective: The aim of this study was to validate the Omron HBP-1300 oscillometric blood pressure (BP) device according to the British Hypertension Society validation protocol, in pregnant women of both medium-arm and large-arm circumferences., Participants and Methods: BP was measured sequentially in 72 women of any gestation requiring the use of a large-size (N=36, arm circumference ≥33 cm) or medium-size cuff (N=36, arm circumference <33 cm) alternating between a mercury sphygmomanometer and the Omron HBP-1300 device., Results: The Omron HBP-1300 is accurate in pregnancy with a mean device-observer difference of 3±6 and 1±6 mmHg for systolic BP and 2±5 and 3±6 mmHg for diastolic BP in women requiring the use of the medium and large cuff, respectively., Conclusion: The Omron HBP-1300-automated BP device can be recommended for use in pregnant women with medium-arm or large-arm circumferences.

Sea buckthorn is a dioecious medicinal plant found at high altitude. The plant has both male and female reproductive organs in separate individuals. In this article, whole transcriptome de novo assemblies of male and female flower bud samples were carried out using Illumina NextSeq 500 platform to determine the role of the genes involved in sex determination. Moreover, genes with differential expression in male and female transcriptomes were identified to understand the underlying sex determination mechanism. The current study showed 63,904 and 62,272 coding sequences (CDS) in female and male transcriptome data sets, respectively. 16,831 common CDS were screened out from both transcriptomes, out of which 625 were upregulated and 491 were found to be downregulated. To understand the potential regulatory roles of differentially expressed genes in metabolic networks and biosynthetic pathways: KEGG mapping, gene ontology, and co-expression network analysis were performed. Comparison with Flowering Interactive Database (FLOR-ID) resulted in eight differentially expressed genes viz. CHD3-type chromatin-remodeling factor PICKLE ( PKL ), phytochrome-associated serine/threonine-protein phosphatase ( FYPP ), protein TOPLESS ( TPL ), sensitive to freezing 6 ( SFR6 ), lysine-specific histone demethylase 1 homolog 1 ( LDL1 ), pre-mRNA-processing-splicing factor 8A ( PRP8A ), sucrose synthase 4 ( SUS4 ), ubiquitin carboxyl-terminal hydrolase 12 ( UBP12 ), known to be broadly involved in flowering, photoperiodism, embryo development, and cold response pathways. Male and female flower bud transcriptome data of Sea buckthorn may provide comprehensive information at genomic level for the identification of genetic regulation involved in sex determination., Competing Interests: Compliance with ethical standardsAuthors declare no conflict of interest.

Introduction: Neck dissection is an important part in the management of head and neck malignancies especially in terms of control of nodal metastasis. The study is focused on evaluating the profile of lymph nodes in T 3 N 0 M 0 lesion of different subsides of oral cavity., Aim: To evaluate the utility of neck dissection in T 3 N 0 M 0 stage of carcinomas of the different region of oral cavity., Materials and Methods: Ninety patients aged 20 to 70 years underwent treatment for carcinoma of the oral cavity at our center between 2005 and 2013. Of these, 39 patients were stage T 3 N 0 M 0 and underwent excision of the primary lesion with neck dissection. The data were collected retrospectively from hospital record library. These patients were evaluated clinically, radiologically and compared with intra operative finding. Addition of radiotherapy was decided on final histopathology., Results: Out of 39 patients, the site of primary tumour in 21 patients was tongue, in 13 patients was Buccal Mucosa (BM), in 2 patients was lip and in 3 patients was Floor of Mouth (FOM) with tongue. In patients with clinically negative neck nodes, ultrasonography and intra-operative examination revealed the presence of suspicious nodes in 35.9% and 30.7% cases respectively. Occult metastasis in the nodes was identified on histopathological examination in 15 patients (38.5%). A total of 14 patients of carcinoma of tongue and one patient of BM showed positive nodes on histopathology. These patients with positive neck nodes on histopathology, were sent for postoperative radiotherapy. At follow up examination, four patients showed local and distal recurrence and they were managed accordingly. Out of 39 patients, 11 patients of BM, 2 patients of lip, 1 patient of FOM and 6 patients of tongue were disease free in last follow up., Conclusion: Selective neck dissection is an effective therapeutic intervention in patients without clinically involved neck nodes. It can upstage the tumour and additional treatment may be advised. In patients with carcinoma of buccal mucosa and lip, the patients can be kept under regular follow up when biopsy report showed excision with adequate margin and no nodal metastasis.

Transforaminal epidural steroid injection (TFESI) is a minimally invasive modality used to treat patients with lumbosacral radiculopathy secondary to prolapsed intervertebral disc or spinal canal stenosis. In this case report, we describe the management of a patient with chronic lumbosacral radiculopathy secondary to intervertebral disc herniation which was seen as a right paracentral disc protrusion at levels L4-L5, L5-S1 causing thecal sac indentation, effacement of the right lateral recess and right exiting nerve root impingement as was seen on the magnetic resonance image. Diffuse disc bulge at levels L4-L5 and L5-S1 caused thecal sac indentation with right neural foraminal narrowing. There was no evidence of associated facet joint arthropathy. Owing to the persistence of symptoms for >6 weeks despite medicines and an ESI through the caudal route 4 weeks back, anticipation of efficacy of TFESI with methylprednisolone using clonidine as an adjuvant in our patient was justifiable., Competing Interests: There are no conflicts of interest.

Background: Chronic lumbar radiculopathy is a common medical problem and the treatment modalities used over years have been many ranging from conservative or symptomatic management to open decompression surgery. This study was aimed at to compare two modalities of treatment, i.e., conservative and lumbar transforaminal epidural steroid injections (TFESIs)., Materials and Methods: A total of 120 patients of American Society of Anesthesiology class - (a healthy patient or a patient with mild systemic disease) were randomized to two groups. Group C ( n = 60) were managed conservatively with bed rest, analgesics, and physiotherapy. Group T ( n = 60) received lumbar TFESIs with methylprednisolone 40 mg with 2 ml bupivacaine (0.5%). Measurements using visual analog scale (VAS) were taken before treatment and at various time intervals after the start of treatment., Results: There was no statistically significant difference regarding the demographic characteristics of both groups. The VAS scores were less and statistically significant in Group T after 30 min postinjection, at the 2 nd week and after 1 month. Recovery rate of straight leg raise test was found to be 98% in those treated with TFESI. The Group T had significantly better patient satisfaction score and additionally there was drug dose intake reduction before and after the treatment., Conclusion: Patients treated with fluoroscopic-guided TFESI have better pain relief, quality-of-life, and less analgesic requirement than those managed conservatively., Competing Interests: There are no conflicts of interest.

The evidence of association between HLA-B(∗)1502 and anticonvulsant induced Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) from the Indian population is scant. Patients with a history of SJS/TEN secondary to carbamazepine or phenytoin were enrolled. The control group comprised of patients who had received carbamazepine/phenytoin for ⩾ 6 months without any adverse cutaneous event. Low-resolution DNA typing for HLA-B and high resolution HLA-B(∗)15 typing was performed. Seventeen patients with history of SJS/TEN secondary to carbamazepine (9) or phenytoin (8) and 50 tolerant controls (carbamazepine-37; phenytoin-13) were enrolled. The mean age of patients and controls was 33.9 ± 11.6 and 28.1 ± 9.9 years, respectively. HLA-B(∗)1502 was observed in 2/9 (22.2%) carbamazepine-SJS/TEN patients and none of the 37 carbamazepine tolerant controls (p = 0.035). HLA-B(∗)1502 was not observed in any of the 8 phenytoin-SJS/TEN patients or the 13 phenytoin tolerant controls. Our data suggests that HLA-B(∗)1502 is a risk factor for carbamazepine induced SJS/TEN. Therefore, HLA-B(∗)1502 testing should be performed prior to initiating carbamazepine in North Indian population., (Copyright © 2014. Published by Elsevier Inc.)

Purpose: Prevalence data of herpes simplex virus (HSV) in oral mucositis in children on treatment for cancer is limited. Quantitative polymerase chain reaction (PCR) has been seldom utilized for detection of HSV-1/2 in oral mucosa., Methods: Children on treatment for cancer with oral mucositis were enrolled as cases and healthy children as controls. An oral swab from the lesion in cases and mucosal scraping in controls were obtained. Both qualitative and real-time quantitative PCR for HSV-1/2 were performed. Serum ELISA-IgG/IgM for HSV-1/2 antibodies (NovaLisa™-Dietzenbach-Germany) were measured., Results: Thirty-two cases (Age, 6.3±3.4 years) and 30 controls were enrolled. Majority (69%) of cases had ALL. All patients had febrile neutropenia, except two. ELISA-IgM-HSV-1/2 was not positive in any case or control. ELISA-IgG-HSV-1/2 was positive in 11 (34%) cases and nine (30%) controls (p=1.0). Qualitative PCR for HSV-1 detected the virus in eight (25%) cases and nil controls (p=0.009). HSV-2 was not detected in any case/control by qualitative PCR. Quantitative PCR detected HSV-1 in 21 (66%) and HSV-2 in 22 (69%) cases. In controls, quantitative PCR detected HSV-1 in three (10%) and HSV-2 in none. In patients, the mean viral load of HSV-1 (5,500±15,987×10(4) copies/nanogram DNA) was more than HSV-2 (4.03±8.5×10(4)) (p=0.11). There was no correlation of HSV-1/2 with grading of mucositis., Conclusions: Both HSV-1/2 are commonly shed from oral mucosal lesions in children receiving chemotherapy. In a novel finding, real-time PCR detected copies of HSV-2 in 69% cases, all missed by conventional PCR. Implication for morbidity, if any, or treatment needs to be determined.

A novel duplication of Xp is described. A 20-year-old man had minor anomalies ichthyosis, congenital heart defect, varicose veins, and hypogonadotropic hypogonadism. He had an interstitial duplication of approximately 2.8 Mb from chromosome region Xp22.31p22.2. His similarly affected brother and asymptomatic mother were shown to carry the same duplication. Knowledge about this duplication and its resultant phenotype will add to our understanding of the role of X chromosome duplications., (Copyright © 2012 Wiley Periodicals, Inc.)

A case of muscular hypertrophy in a hypothyroid 12-year-old male child, known as Kocher Debre Semelaigne syndrome, is reported with review of the relevant literature. The patient responded well to l-thyroxine therapy.

Profile of children attending in a Pediatric Emergency Unit of an urban teaching hospital over a period of one year was analyzed. The total number of patients seen between September 1999 to August 2000 was 9205; there was a prepondence of boys (73%). The maximum number of patients were seen in the monsoon month of July and August. About half (52.5%) of the patients were infants. Fever (29.5%), breathing difficulty (17.4%) and diarrhea (14.5%) were the most common presenting symptoms. Respiratory and gastrointestinal illnesses were the two commonest pediatric emergencies. About 2% (n-198) patients died within 24 hours of hospitalization; 42.3% deaths were in the age group of 0-28 days. Sepsis was the most common diagnosis in patients who died. This information may help in planning and development of a Pediatric Emergency unit and prioritizing residents, training.

Objective: To study the clinical and immunological profile of children with juvenile rheumatoid arthritis (JRA)., Design: Retrospective hospital based study., Setting: Tertiary level center of North India., Subjects: 74 patients attending the Pediatric Rheumatology and Immunology Clinic over last 5 years., Results: The patients were aged between 9 months to 12 years with male female ratio of 1.8:1. Eleven (14.9%) patients had systemic onset JRA, 28 (37.8%) had polyarticular onset type and 35(47.3%) had pauciarticular onset type JRA. Uveitis was present only in one patient and rheumatoid nodules were present in 4(5.4%) patients. Rheumatoid factor was positive in 2(2.7%) and antinuclear antibody was present in one patient only. HLA-B27 was positive in 4 children. Two patients developed amyloidosis., Conclusion: The clinico-immunological profile of JRA at Chandigarh appears to be some what different from that reported from other centers in India.