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Objective. Taybi syndrome is a rare genetical disorder with the symptoms of small stature, broad thumbs and first toes, a moderate to severe intellectual handicap, and unique facial traits. The present case study aimed with diagnose and therapeutic management of pediatric patients having Rubinstein-Taybi syndrome. Study area. The case study was carried out in Jawaharlal Nehru Medical College, Acharya Vinoba Bhave Rural Hospital, Sawangi Meghe, Wardha, Maharashtra, in department of Pediatrics. The present study follows case of male child, diagnosed with different degrees of compliance, in which the therapeutic approach was determined by the severity of the patient’s conditions. Outcomes. Case study on 3 years old male child was carried out and observed with some behavioral changes like unstable mood, distractibility and impulsivity along with attention problem, aggressive nature and self-injurious behavior etc. As the syndrome does not have a particular treatment but some therapies are applied to address issues that are frequently connected to the illness. The thumbs or toes surgically repaired might enhance grip or ease pain. The study was performed as per the scientific way, based on research literatures study.

Background. Neonatal jaundice is a commonly occurring problem in both full term and preterm neonates. It is one of the major causes for neonatal mortality and morbidity. Objective. To assess the correlation among transcutaneous bilirubinometer readings and Total serum bilirubin levels at different sites in early and late preterm neonates before and at the end of phototherapy. Method. An observational study was conducted in preterm neonates diagnosed with jaundice. The Transcutaneous Bilirubin (TCB) instrument, Drager JM105 is used to assess TCB and it was recorded on three sites and average of the three readings was noted. Prior to phototherapy, TCB was noted 30 min before TSB was sent. A photo-opaque patch was placed on the sternum and phototherapy was given. At the end of the phototherapy, TCB on the sternum was noted and then TSB was sent with a time gap of not more than 30 min. Results. In this study, out of 50 neonates 14 were early preterm and 36 were late preterm babies. It was found that there was a positive correlation between TCB and TSB in early preterm babies before phototherapy (p value=0.0019), but there was no correlation between TCB and TSB at the end of phototherapy. In late preterm babies there was no correlation between TCB and TSB both before phototherapy and at the end of phototherapy. Conclusion. In this study it was found that TCB has positive correlation with TSB and can be implemented for the screening of hyperbilirubinemia even in preterm neonates.

Background: Deimplementing overused health interventions is essential to maximizing quality and value while minimizing harm, waste, and inefficiencies. Three national guidelines discourage continuous pulse oximetry (SpO2) monitoring in children who are not receiving supplemental oxygen, but the guideline-discordant practice remains prevalent, making it a prime target for deimplementation. This paper details the statistical analysis plan for the Eliminating Monitor Overuse (EMO) SpO2 trial, which compares the effect of two competing deimplementation strategies (unlearning only vs. unlearning plus substitution) on the sustainment of deimplementation of SpO2 monitoring in children with bronchiolitis who are in room air. Methods: The EMO Trial is a hybrid type 3 effectiveness-deimplementation trial with a longitudinal cluster-randomized design, conducted in Pediatric Research in Inpatient Settings Network hospitals. The primary outcome is deimplementation sustainment, analyzed as a longitudinal difference-in-differences comparison between study arms. This analysis will use generalized hierarchical mixed-effects models for longitudinal clustering outcomes. Secondary outcomes include the length of hospital stay and oxygen supplementation duration, modeled using linear mixed-effects regressions. Using the well-established counterfactual approach, we will also perform a mediation analysis of hospital-level mechanistic measures on the association between the deimplementation strategy and the sustainment outcome. Discussion: We anticipate that the EMO Trial will advance the science of deimplementation by providing new insights into the processes, mechanisms, and likelihood of sustained practice change using rigorously designed deimplementation strategies. This pre-specified statistical analysis plan will mitigate reporting bias and support data-driven approaches. Trial registration: ClinicalTrials.gov NCT05132322. Registered on 24 November 2021.

Abstract Background Idiopathic connective tissue disease juvenile dermatomyositis (JDM) is characterised by inflammatory myositis and distinctive skin abnormalities. Only a few cases of Dermatomyositis (DM) owing to chemotherapy used to treat cancer have been reported, despite the fact that the link between DM and cancer in adults is widely known. We describe the case of a female, age 14, who experienced DM as a side effect of chemotherapy following enucleation for retinoblastoma. We also discussed our patient's likely pathophysiology of JDM after treatment. Case presentation A 14-year-old female came to our facility complaining of trouble walking and bluish-black discoloration on her neck, elbows, forehead, and knees that had been present for eight months. The patient had undergone enucleation of the left eye due to retinoblastoma, followed by 40 cycles of radiation therapy and 13 cycles of chemotherapy with Cyclophosphamide, Etoposide, Carboplatin, Vincristine, and Dactinomycin. Her serum LDH and CPK levels were high, and she tested positive for ANA. The muscle biopsy was consistent with the changes of DM. When electromyography was performed, it revealed tiny, fibrillating, polyphasic motor unit potentials and sharp, positive waves that were suggestive with DM. A diagnosis of JDM was made after taking into account the symptoms, biochemical data, muscle biopsy, and electromyography results. The patient's symptoms started to get better once methotrexate and oral corticosteroids were started. Conclusion This case report emphasises the value of ongoing observation after cancer chemotherapy because specific cutaneous and muscle symptoms may lead paediatricians to consider the possibility of chemotherapy-induced JDM, which is uncommon in young patients.

Abstract Background Lenabasum is a cannabinoid type 2 receptor (CB2R) reverse agonist that demonstrates anti-inflammatory effects in vivo and in vitro in dermatomyositis (DM) and is currently being investigated for therapeutic potential. The purpose of our study is to investigate CB2R distribution as well as the effects of lenabasum in DM. Methods Immunohistochemistry staining (IHC) was utilized to examine immune cell and cytokine production changes in lesional DM skin biopsies from lenabasum and placebo-treated patients. CB2R expression in various immune cell populations within DM skin was investigated with image mass cytometry (IMC), whereas flow cytometry elucidated CB2R expression in DM peripheral blood mononuclear cells (PBMCs) as well as cytokine production by CB2R-expressing cell populations. Results After 12 weeks of lenabasum treatment, IHC staining showed that CD4+ T cells, CB2R, IL-31, IFN-γ, and IFN-β cytokines were downregulated. IFN-γ and IFN-β mRNA decreased in lesional DM skin but not in PBMCs. IMC findings revealed that CB2R was upregulated in DM lesional skin compared to HC skin and DM PBMCs (p

PSMD9 (Proteasome Macropain non-ATPase subunit 9), a proteasomal assembly chaperone, harbors an uncharacterized PDZ-like domain. Here we report the identification of five novel interacting partners of PSMD9 and provide the first glimpse at the structure of the PDZ-domain, including the molecular details of the interaction. We based our strategy on two propositions: (a) proteins with conserved C-termini may share common functions and (b) PDZ domains interact with C-terminal residues of proteins. Screening of C-terminal peptides followed by interactions using full-length recombinant proteins, we discovered hnRNPA1 (an RNA binding protein), S14 (a ribosomal protein), CSH1 (a growth hormone), E12 (a transcription factor) and IL6 receptor as novel PSMD9-interacting partners. Through multiple techniques and structural insights, we clearly demonstrate for the first time that human PDZ domain interacts with the predicted Short Linear Sequence Motif (SLIM) at the C-termini of the client proteins. These interactions are also recapitulated in mammalian cells. Together, these results are suggestive of the role of PSMD9 in transcriptional regulation, mRNA processing and editing, hormone and receptor activity and protein translation. Our proof-of-principle experiments endorse a novel and quick method for the identification of putative interacting partners of similar PDZ-domain proteins from the proteome and for discovering novel functions.