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Larsen syndrome is a condition characterized by generalized defect in collagen formation. Autosomal dominant, autosomal recessive and even sporadic fresh mutations have been reported. Very few cases of lethal variety of Larsen syndrome have been reported in the world. The authors emphasize the importance of recognition of this condition which is often misdiagnosed. [ABSTRACT FROM AUTHOR]

Jatropha curcas is common plant found all over India more commonly in the southern parts. Though it is a common cause of accidental poisoning among children in these parts, standard texts rarely cover it. Gastrointestinal manifestations are predominant feature of poisoning with the seeds of Jatropha curcas. Mortality is rare. [ABSTRACT FROM AUTHOR]

Background: The COVID-19 pandemic displaced newly matched emergency medicine "pre-interns" from in-person educational experiences at the end of medical school. This called for novel remote teaching modalities., Objective: This study assesses effectiveness of a multisite Accreditation Council for Graduate Medical Education (ACGME) sub-competency-based curricular implementation on Slack during the first wave of the COVID-19 pandemic in the United States., Methods: Emergency medicine residency programs were recruited via national organization listservs. Programs designated instructors to manage communications and teaching for the senior medical students who had matched to their programs (pre-interns) in spring/summer 2020. Pre- and post-surveys of trainees and instructors assessed perceived preparedness for residency, perceived effectiveness of common virtual educational modalities, and concern for the pandemic's effects on medical education utilizing a Likert scale of 1 (very unconcerned) to 5 (very concerned). Data were analyzed using descriptive statistics and the t test., Results: Of 276 possible residency programs, 28 enrolled. Of 324 possible pre-interns, 297 (91.7%) completed pre-surveys in April/May and 249 (76.9%) completed post-surveys in June/July. The median weeks since performing a physical examination was 8 (IQR 7-12), since attending in-person didactics was 10 (IQR 8-15) and of rotation displacement was 4 (IQR 2-6). Perceived preparedness increased both overall and for 14 of 21 ACGME Milestone topics taught. Instructors reported higher mean concern (4.32, 95% CI 4.23-4.41) than pre-interns (2.88, 95% CI 2.74-3.02) regarding the pandemic's negative effects on medical education., Conclusions: Pre-interns reported improvements in residency preparedness after participating in this ACGME sub-competency-based curriculum on Slack., Competing Interests: Conflict of interest: Jennifer Beck-Esmay, MD, is a paid contributor for EM:RAP. EM:RAP was referenced in our curriculum as one of many recommended educational resources for emergency medicine trainees. However, these recommendations were created by the curriculum authors (Drs. Cotarelo, Huls, Kulkarni, McLean, and Park) prior to Dr. Beck-Esmay enrolling in the research project. Slack is a trademark of Slack Technologies Inc. The Slack Intern Curriculum research project is an independent research project and is not affiliated, sponsored, authorized, or otherwise associated with or by Slack Technologies Inc.

Objectives: Implicit bias contributes to both health care disparities and professional limitations, and it exists among physicians. Prior literature has described physician weight bias (WB) toward patients, but little research has investigated interphysician WB. This study describes the prevalence of interphysician implicit WB and investigates the relationships between implicit, explicit, and professional biases. The authors hypothesized that the majority of physicians possess interphysician implicit WB and that the degree of implicit bias has a direct relationship with explicit and professional WB., Methods: In this cross-sectional study, a survey was used to measure interphysician implicit, explicit, and professional WB. It included adaptations of two previously validated measures (the Implicit Association Test and the Crandall Anti-fat Attitudes Questionnaire) and an investigator developed and tested Professional Weight Bias Scale. The survey was distributed electronically via medical society message boards, email lists, and social media groups., Results: A total of 620 physicians and medical students participated. Fifty-eight percent were female, ages ranged from 22 to 83 years (mean = 44 years), and body mass index (BMI) ranged from 16 to 59 (mean = 26). Descriptive analyses revealed that 87% had some degree of implicit interphysician antifat bias, with 31% and 34% categorized as moderate and severe, respectively. Correlation and multiple regression analyses revealed that male sex, increased age, and decreased BMI were related to increased implicit bias, controlling for all other factors. Furthermore, implicit, explicit, and professional bias all had significant, direct relationships with each other., Conclusions: Our findings highlight the prevalence of interphysician implicit WB; the strong correlations between implicit, explicit, and professional WB; and the potential disparities faced by physicians with obesity. These results may be used to guide implicit bias training for a more inclusive medical workplace., (© 2021 by the Society for Academic Emergency Medicine.)

Introduction: Coronavirus disease 2019 (COVID-19) is a multisystem process with a growing evidence of its endotheliopathy effects, with subsequent hypercoagulability states., Case Report: WWe present an emergency department case of a COVID-19-provoked deep venous thrombosis and pulmonary embolism without a history of venous thromboembolism (VTE), with extension of the VTE despite adherence to apixaban., Conclusion: This case demonstrates the importance of further research and protocols for optimal dosage and treatment to prevent worsening VTE in COVID-19 patients.

Objectives: The objective was to bridge the relative educational gap for newly matched emergency medicine preinterns between Match Day and the start of internship by implementing an Accreditation Council for Graduate Medical Education Milestone (ACGME)-based virtual case curriculum over the social media platform Slack., Methods: We designed a Milestone-based curriculum of 10 emergency department clinical cases and used Slack to implement it. An instructor was appointed for each participating institution to lead the discussion and encourage collaboration among preinterns. Pre- and postcurriculum surveys utilized 20 statements adapted from the eight applicable Milestones to measure the evolution of preintern self-reported perceived preparedness (PP) as well as actual clinical knowledge (CK) performance on a case-based examination., Results: A total of 11 institutions collaborated and 151 preinterns were contacted, 127 of whom participated. After participating in the Slack intern curriculum (SIC), preinterns reported significant improvements in PP regarding multiple Milestone topics. They also showed improved CK regarding the airway management Milestone based on examination performance., Conclusions: Implementation of our SIC may ease the difficult transition between medical school and internship for emergency medicine preinterns. Residency leadership and medical school faculty will benefit from knowledge of preintern PP, specifically of their perceived strengths and weaknesses, because this information can guide curricular focus at the end of medical school and beginning of internship. Limitations of this study include variable participation and a high attrition rate. Further studies will address the utility of such a virtual curriculum for preinterns and for rotating medical students who have been displaced from clinical rotations during the novel coronavirus pandemic., (© 2020 by the Society for Academic Emergency Medicine.)

Purpose: Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological and immune manifestations of this disease in a cohort of molecularly confirmed cases., Methods: We compiled clinical, genetic and serological data from a total of 26 patients from 18 pedigrees, all with biallelic ACP5 mutations., Results: We observed a variability in skeletal, neurological and immune phenotypes, which was sometimes marked even between affected siblings. In total, 22 of 26 patients manifested autoimmune disease, most frequently autoimmune thrombocytopenia and systemic lupus erythematosus. Four patients were considered to demonstrate no clinical autoimmune disease, although two were positive for autoantibodies. In the majority of patients tested we detected upregulated expression of interferon-stimulated genes (ISGs), in keeping with the autoimmune phenotype and the likely immune-regulatory function of the deficient protein tartrate resistant acid phosphatase (TRAP). Two mutation positive patients did not demonstrate an upregulation of ISGs, including one patient with significant autoimmune disease controlled by immunosuppressive therapy., Conclusions: Our data expand the known phenotype of SPENCD. We propose that the OMIM differentiation between spondyloenchondrodysplasia and spondyloenchondrodysplasia with immune dysregulation is no longer appropriate, since the molecular evidence that we provide suggests that these phenotypes represent a continuum of the same disorder. In addition, the absence of an interferon signature following immunomodulatory treatments in a patient with significant autoimmune disease may indicate a therapeutic response important for the immune manifestations of spondyloenchondrodysplasia.

In β-thalassemia, point mutations in the β-globin gene are largely responsible for either decreased or no β-globin synthesis. The β-globin gene has three exons and two introns. The molecular characterization of β-thalassemia is absolutely necessary for carrier screening, for genetic counseling, and to offer prenatal diagnosis. The objective of the present study was to identify the rare mutations in β-globin gene of β-thalassemia patients. We have sequenced the entire β-globin gene in 36 clinically identified thalassemia patients from the Karnataka region using polymerase chain reaction and sequencing. Our analysis revealed 11 β-thalassemia variants. The most common being IVSII-16 G>C, IVSI-5G>C, IVSII-74 T>G, codon 3 (T>C), and Poly A site (T>C). In addition, we have also documented a novel deletion at codon 6 (-CT) (HBB:c.16delCT). These data are useful in future molecular screening of the population for implementing a thalassemia prevention and control program. Further it is found that family studies and comprehensive hematological analyses would provide useful insights for accurate molecular diagnosis of thalassemia phenotype and offers an interesting subject for further investigations in the Indian populations.

Objective: To estimate the prevalence of bullying among girls and boys in school and examine its association with psychological and psychosomatic symptoms., Methods: 500 students aged between 8-14 yrs from 5 randomly selected schools as well as their parents and teachers were interviewed using a pretested questionnaire., Results: Bullying was reported by 302(60.4%) of the 500 children interviewed. Bullying was seen to be more prevalent among boys than girls, the commonest forms being calling names and making fun of one's looks. Physical abuse was reported by 38 students. Only 65 (39%) parents knew that their children were being bullied. Bullied children were more likely to report symptoms such as headache, loose motions, fever and depression. Teachers were found to be ignorant of the whole issue., Conclusions: Bullying is a major problem among school children. Bullied children complained of psychosomatic symptoms which are potentially harmful for development. Teachers must be adequately trained to tackle this problem. Pediatricians should always consider bullying as a causative agent for illness and plan for appropriate interventions.

We studied ten individuals from eight families showing features consistent with the immuno-osseous dysplasia spondyloenchondrodysplasia. Of particular note was the diverse spectrum of autoimmune phenotypes observed in these individuals (cases), including systemic lupus erythematosus, Sjögren's syndrome, hemolytic anemia, thrombocytopenia, hypothyroidism, inflammatory myositis, Raynaud's disease and vitiligo. Haplotype data indicated the disease gene to be on chromosome 19p13, and linkage analysis yielded a combined multipoint log(10) odds (LOD) score of 3.6. Sequencing of ACP5, encoding tartrate-resistant acid phosphatase, identified biallelic mutations in each of the cases studied, and in vivo testing confirmed a loss of expressed protein. All eight cases assayed showed elevated serum interferon alpha activity, and gene expression profiling in whole blood defined a type I interferon signature. Our findings reveal a previously unrecognized link between tartrate-resistant acid phosphatase activity and interferon metabolism and highlight the importance of type I interferon in the genesis of autoimmunity.

Fetal intracranial calcification (ICC) noted during antenatal imaging poses a diagnostic challenge. Although this presentation is most commonly associated with intrauterine infection, non-infectious causes of fetal ICC have been reported and include metabolic, genetic, or hemodynamic conditions. We report on a patient with antenatally detected extensive ICC, in whom postnatal imaging revealed a distinctive band-like ICC with abnormal gyral pattern and a negative serology for TORCH infections. Such a constellation of findings have been previously described under the terminology of "pseudo-TORCH phenotype," and we posit that our patient represents this entity. Our patient had unreported dysmorphic features, which expands the phenotypic spectrum of this recently described heterogenous condition. In addition we report on the progression of the phenotype both clinically and radiologically. In view of the limited information available for the differential diagnosis of fetal ICC, we also review the available literature on this topic., ((c) 2010 Wiley-Liss, Inc.)

We report on a patient with Adams-Oliver syndrome, a condition characterized by scalp and limb defects. In addition we noted in our patient a significant delay in the bone age and an abnormal distal phalanx in one of her fingers manifesting clinically as a broad finger tip. Both these features hitherto unreported add to the phenotypic spectrum of the condition. The underlying etiopathogenesis of this condition has remained in the domain of hypothesis, with none being conclusive. Based on the characteristic features of AOS and our report of delayed bone age, we postulate a role played by the bone morphogenetic protein pathway in the causation of this enigmatic condition. In the background of this postulation and the report of an unusual hand anomaly, a literature review on the various pathogenetic mechanisms and anomalies of the hand reported in AOS is presented., (2009 Wiley-Liss, Inc.)

Objective: To determine the baseline Widal titres in apparently healthy children in Davangere., Methods: Cross-sectional study was done on 250 children. Widal titers were found using tube agglutination test., Results: Out of 250,64.2% had a titre of less than 1:20,22.4% had a titre equal to 1:20,9.6% had a titre of 1:40 and 3.6% had a titre of 1:80 to 'O' antigen and 67.2% had a titre of less than 1:20, 21.2% had a titre equal to 1:20, 8% had a titre of 1:40 and 3.6% had a titre of 1:80 to 'H' antigen of S. enterica subsp. enterica ser. Typhi. No children in age group 6 months-2 years had a titre of 1:80 to either antigen. All children in this age group had a titre of less than 1:20 to AH antigen and older children had a titre upto 1:40 dilution., Conclusion: Baseline titres for either S. enterica subsp. enterica ser. Typhi antigen in 6 month-2 year was 1:40 and older children was 1:80. Baseline titres for H antigen of S. enterica subsp. enterica ser. Paratyphi A in 6 month-2 year was less than 1:20 and for older children was 1:40 dilution.

Osteopetrosis is a collective term for a range of sclerosing bone diseases resulting from an absence or defective function of osteoclasts. The clinical expression is variable and includes skeletal, hematological and neurological manifestations. The common neurological manifestation includes cranial neuropathies involving optic, cochlear, facial and trigeminal nerves. Spastic quadriplegia occurring as a result of brain stem compression in osteopetrosis is uncommon. The association of Type 1 Arnold Chiari malformation with osteopetrosis resulting in brain stem compression syndrome is an extremely rare entity.

Eventration of the diaphragm, most often an isolated entity and detected incidentally, has been known to be associated with several genetic syndromes. Authors report their experience of seeing diaphragmatic eventration in association with Poland syndrome and wandering spleen syndrome and briefly discuss the literature.

We treated a 5-year-old boy, in our hospital in south India, who had a history of recurrent respiratory infections, tuberculosis, and severe varicella infection. He was short in build and a radiological examination revealed evidence of spondylometaphyseal dysplasia. Investigation of the immune system was suggestive of compromised cellular immunity. Immunofluorescence and immunoblot assay for antibodies detected underlying multiple disorders such as systemic lupus erythematosus (SLE), autoimmune thrombocytopenia, and juvenile rheumatoid arthritis (JRA). Roifman et al. described a similar syndrome in 2000 and 2003, which was characterized by spondylometaphyseal dyplasia, combined immunodeficiency, and autoimmunity and called it Roifman-Costa syndrome (OMIM 607944). Hence a diagnosis of Roifman-Costa syndrome was made. Ours shall be the first report of such a condition from the Indian subcontinent and hence the communication., ((c) 2006 Wiley-Liss, Inc.)

Here it is reported a 4-year-old boy with Langer-Giedion syndrome (Trichorhino phalangeal syndrome-II), who had characteristic features of TRP II, associated with multiple renal cysts hitherto unreported. This could be a new association in this syndrome that may serve to support the concept of contiguous gene syndrome in patients with TRP II.

Johanson-Blizzard syndrome is an extremely rare ectodermal dysplastic disorder characterized by aplasia or hypoplasia of alae nasi, midline scalp defects, growth retardation, varying degrees of mental retardation, hypothyroidism, exocrine pancreatic insufficiency and congenital deafness. This condition is supposed to be an autosomal recessive disorder. We are reporting a female neonate with the characteristic features and an uncommon less emphasized feature viz. cafe-au-lait spots.

The authors report two sibs with COFS syndrome and review the relevant literature in brief. They emphasize the importance of prenatal diagnosis in this syndrome that has many mimics.

Kabuki make-up syndrome is a rare disorder characterized by mental retardation, postnatal dwarfism and peculiar facies. This condition is believed to be common in Japan, but has been reported from other parts of the world. The authors report a case of this syndrome in an eight-year-old girl, with the characteristic findings from India.

Juvenile idiopathic osteoporosis (JIO) is a very rare condition of primary bone demineralisation that presents in childhood. Most pediatricians are unfamiliar with this condition owing to the difficulty in recognition and a long list of differential diagnosis. We report an 8-year-old girl who presented with generalized severe osteoporosis. Diagnosis of JIO was made by excluding other common causes of osteoporosis in this age.

Sirenomelia is a rare anomaly usually associated with other multiple malformations. In this communication the authors report a case of sirenomelia associated with multiple malformations, which include radial hypoplasia also. Though several theories have been proposed regarding the etiology of multiple malformation syndromes in the past, the recent theory of primary developmental defect during blastogenesis holds good in this case.

Objective: This study was undertaken to analyze indications, complications, outcome and the factors influencing neonatal mechanical ventilation., Methods: Prospective observational study conducted on 102 consecutive newborns, who required mechanical ventilation in a medical college tertiary neonatal care setting., Results: The commonest indication was birth asphyxia (37.3%), followed by hyaline membrane disease (HMD) (31.4%), meconium aspiration syndrome (MAS) (21.2%), septicemia (14.7%) and apnea of prematurity (5.9%). The overall survival rate in our study was 51%. Babies weighing less than 1.5 kg and less than 32 weeks of gestation had survival rates of 30% and 25% respectively. The best outcome among various indications was observed in babies with MAS (63.6%) followed by pneumonia (62.5%) and HMD (53.1%). Babies with birth asphyxia and septicemia had a low survival rate of only 42% and 40% respectively. The overall complication rate in the study was 58.8%. Common complications encountered were septicemia (42%), tube block (36%) and air leak (15%)., Conclusion: About half (51%) of newborns requiring mechanical ventilations for various indications survived and more than half (58.8%) developed complications. The study also reconfirms that survival rate increases with birth weight and gestational age irrespective of indication.

Osteopetrosis is a hereditary bone disease with intense positive balance of body calcium. Infantile variety is often associated with rickets--a paradoxical association. Two siblings with osteopetro rickets are reported in the article. The pathophysiologic mechanism of the paradoxical association has been explained and various management options have been discussed. Both cases were treated with high dose calcitriol and calcium supplements.

2221 consecutive live births taking place between March 1994 and February 1995 were evaluated for a minimum period of 5 days to note for the occurrence of various normal anatomical variants specially those of skin. Birth weight, gestational age, maternal age, socio-economic status and consanguinity were carefully recorded in all the cases. Mongolian spots (72%), Epstein pearls (43.8%), Milia (26.2%) and Erythema toxicum (25.2%), were the common dermatological variants noted. Maturity of the babies and possibly genetic factors (consanguinity) are important factors in their causation as ordered in our study.

Objective: To study the clinical profile in patients with Sydenham's chorea., Design: Prospective., Setting: Medical college and hospital., Subjects: Sixty cases with Sydenham's chorea, between 1988 and 1994, were studied. Of these 36 were girls; the mean age at presentation was 11.1 yr (range 7-16 yr)., Results: Female predominance was apparent only after 9 years of age. There was a high familial incidence for both chorea and rheumatic fever. Generalized chorea was seen in 40 and hemichorea in 20 patients. The chorea lasted from 5 to 40 days; 13 patients had recurrent episodes. Gait disturbances, dysarthria and weakness were common. Six patients had co-existing heart disease, 4 had arthritis and one had subcutaneous nodules. A raised ESR and positive ASO titer were seen in 37 and 20 patients respectively., Conclusions: There was an increased incidence of Sydenham's chorea after 9 years of age in girls possibly suggesting the influence of female sex hormones. A high incidence of neurologic manifestations were noted. Acute phase reactants were raised in almost half the patients. Sodium valproate, whenever used, was effective in controlling the chorea.