Objective: Robinow syndrome (RS) is an extremely rare genetic disorder characterized by short-limbed dwarfism, defects in vertebral segmentation and abnormalities in the head, face and external genitalia. Mutations in the ROR2 gene cause autosomal recessive RS (RRS) whereas mutations in WNT5A are responsible for the autosomal dominant (AD) form of RS. In AD Robinow patients, oral manifestations are more prominent, while hemivertebrae and scoliosis rarely occur and facial abnormalities tend to be milder.Methods: Three unrelated patients from different parts of India were studied. These patients were diagnosed as RRS due to presence of characteristic fetal facies, mesomelia, short stature, micropenis, hemivertebrae and rib abnormalities. One of the patients had fetal facies and micropenis but unusually mild skeletal features. This patient’s mother had mild affection in the form of short stature and prominent eyes. Testosterone response to human chorionic gonadotropin was investigated in two patients and were normal. The exons and exon-intron boundaries of the ROR2 gene were sequenced for all probands. Bioinformatics analysis was done for putative variants using SIFT, PolyPhen2 and Mutation Taster.Results: Patients 1, 2 and 3 were homozygous for c.G545A or p.C182Y in exon 5, c.227G>A or p.G76D in exon 3 and c.668G>A or p.C223Y in exon 6 respectively. Prenatal diagnosis could be performed in an ongoing pregnancy in one family and the fetus was confirmed to be unaffected. Conclusion: ROR2 mutations were documented for the first time in the Indian population. Knowledge of the molecular basis of the disorder served to provide accurate counseling and prenatal diagnosis to the families.
<p class="abstract">A review of research trends, followed in tracheostomy studies, are discussed by several otolaryngologists as a comprehensive review on tracheostomy is extremely difficult to compile mainly due to its voluminous nature and the difficulty in obtaining the scattered information, as isolated pieces of research, an attempt has been made to review some of the recent research publications to depict current research trends in the area of tracheostomy. An overview of the literature shows that percutaneous dilatational tracheostomy (PDT) is as safe and effective as surgical tracheostomy (ST). Although early and late post-operative complication rates are not statistically significant in the PDT group, further investigations of long-term outcome following PDT are therefore necessary. Generally, PDT has fewer acute complications than ST, although this may vary by the specific PDT technique. Patient factors also influence complications. In view of the benefit verses risks in tracheostomy, PDT may be considered the procedure of choice for performing elective tracheostomy in critically ill adult patients.</p><p class="abstract"> </p>
Objectives Multisystem inflammatory syndrome in children (MIS-C) is a post Severe Acute Respiratory Syndrome Coronavirus2 (SARS CoV2) immune dissonance seen in the pediatric population. The current study is an attempt to understand the subtleties of diverse phenotypes, immunotherapeutics, and short-term outcome parameters of MIS-C.
Materials and Methods Children admitted to the pediatric intensive care unit (PICU) between 1 month and 18 years, satisfying MIS-C criteria, were enrolled in this retrospective observational study. They were stratified into different phenotypes like shock, Kawasaki disease, and nonspecific phenotypes. Respiratory, vasoactive support, and outcomes were analyzed using appropriate statistical methods.
Results Seventy-five children presented with MIS-C during the study period. The mean age was 66 months with 54.6% females. Coronavirus disease (COVID) antibody was positive for 41 (54%), real time-reverse rranscription polymerase chain reaction (RT-PCR) positivity was positive in 16 (21.3%), and rapid antigen test was positive in 10 (13%). Common symptoms included fever (100%), rash (30%), conjunctival congestion (29.7%), and cardiovascular (68% with shock) involvement. Notable differences in shock phenotype were identified including Pediatric Risk of Mortality III score, inflammatory markers, cardiac involvement, need for inotropes, and ventilation. In total, 32% received intravenous immunoglobulin and 48% glucocorticoids. The overall mortality in children with MIS-C was 9 (12%). The need for mechanical ventilation (odds ratio 10.94, confidence interval [2.06, 58.06], p-value <0.005) was noted as an independent predictor of mortality by logistic regression.
Conclusion MIS-C showed a significant cardiovascular involvement at presentation, necessitating intensive care and immunomodulatory therapies. There were higher odds of mortality in the ventilated cohort.
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