Ellis-van Creveld syndrome in an Indian child: a case report

Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones resulting in acromesomelic dwarfism, ectodermal dysplasia affecting nails as well as teeth and congenital heart malformation. There were very rare reports of this syndrome in dentistry. The present case focuses on the striking and constant oral findings of these patients, which are the main diagnostic features of this syndrome. Since the oral manifestations affect the esthetic, speech, and jaw growth of the child, the dentists have an important role to play in proper management of such case

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Allama Dr.Muhammad Iqbal's poetry combines a wide variety of thoughts that serves to be the beacon of light for a diverse cross section of society. philosophical thoughts that Iqbal gave, "Khudi" has come to be known as the pride of his philosophy. Khudi, to Iqbal, is inseparable soul and spirit of humanity. Some sources translate "khudi"as ego and other as self."Self" may or may not be an equivalent word but i think this word as more appropriate to refer Khudi. In this article discuss about famous expositor of "Khudi" and Kalam-i-Iqbal

Role of HRCT for Rapid Triage of Patients with COVID-19 Pneumonia

Background:   To assess the diagnostic performances of HRCT for COVID 19 pneumonia for efficient triage of patients, in comparison with RT-PCR reverse transcription polymerase chain reaction test.   Method:   It is retrospective comparative study conducted in Benazir Bhutto hospital affiliated with Rawalpindi medical university from March 25th to April 25th, 2021.  HRCT of 500 patients were selected from central computer server and their RT-PCR results were also obtained from the HMS system of the hospital. HRCT were reported as “Definitely COVID positive”, “Possible COVID positive” or “COVID negative” by experienced radiologists. Sensitivity, Specificity, positive predictive value (PPV) and negative predictive value (NPV) were calculated using the final RT-PCR test as standard of reference. Results:   RT-PCR test of 207 patients was positive, whereas 293 were reported negative. HRCT was reported as “Definitely COVID positive” in 222 cases (44.4 %), “Possible COVID positive” in 24 cases (4.8%) and “COVID negative” in 254 cases (50.8%). Comparing only Definitely COVID positive category with RT-PCR results sensitivity, specificity. PPV and NPV were 90.3%, 88%,84.2% and 92.8%   Conclusion:   CT chest is the most reliable, sensitive and rapid tool for triaging of patients as COVID positive or negative in busy emergency departments as compared to RT-PCR which is time consuming and has limitations such as faulty sampling technique, limited kits and variable sensitivit

A loss-of-function homozygous mutation in DDX59

We report on a homozygous frameshift deletion in DDX59 (c.185del: p.Phe62fs*13) in a family presenting with orofaciodigital syndrome phenotype associated with a broad neurological involvement characterized by microcephaly, intellectual disability, epilepsy, and white matter signal abnormalities associated with cortical and subcortical ischemic events. DDX59 encodes a DEAD-box RNA helicase and its role in brain function and neurological diseases is unclear. We showed a reduction of mutant cDNA and perturbation of SHH signaling from patient-derived cell lines; furthermore, analysis of human brain gene expression provides evidence that DDX59 is enriched in oligodendrocytes and might act within pathways of leukoencephalopathies-associated genes. We also characterized the neuronal phenotype of the Drosophila model using mutant mahe, the homolog of human DDX59, and showed that mahe loss-of-function mutant embryos exhibit impaired development of peripheral and central nervous system. Taken together, our results support a conserved role of this DEAD-box RNA helicase in neurological function.Fil: Salpietro, Vincenzo. University College London; Estados UnidosFil: Efthymiou, Stephanie. University College London; Estados UnidosFil: Manole, Andreea. University College London; Estados UnidosFil: Maurya, Bhawana. Banaras Hindu University; IndiaFil: Wiethoff, Sarah. University College London; Estados UnidosFil: Ashokkumar, Balasubramaniem. University College London; Estados UnidosFil: Cutrupi, Maria Concetta. University of Messina; ItaliaFil: Dipasquale, Valeria. University of Messina; ItaliaFil: Manti, Sara. University of Messina; ItaliaFil: Botia, Juan A.. University College London; Estados UnidosFil: Ryten, Mina. University College London; Estados UnidosFil: Vandrovcova, Jana. University College London; Estados UnidosFil: Bello, Oscar Daniel. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Mendoza. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos. Universidad Nacional de Cuyo. Facultad de Ciencias Médicas. Instituto de Histología y Embriología de Mendoza Dr. Mario H. Burgos; ArgentinaFil: Bettencourt, Conceicao. University College London; Estados UnidosFil: Mankad, Kshitij. Great Ormond Street Hospital for Children; Reino UnidoFil: Mukherjee, Ashim. Banaras Hindu University; IndiaFil: Mutsuddi, Mousumi. Banaras Hindu University; IndiaFil: Houlden, Henry. University College London; Estados Unido