We report a case of familial SWS presenting in the neonatal period with features of small bowel obstruction. [indianpediatrics.net]

Perils of total colonic aganglionosis presenting in neonatal age. J Neonatal Surg 2014;3:28. [Figure 1], [Figure 2], [Figure 3] [Table 1], [Table 2] [e-fjs.org]

Coloboma of the nares or notched nares were present in 13/117 (11.1%). [jmg.bmj.com]

Bleeding diathesis is present in as many as half of all patients with NS. [ncbi.nlm.nih.gov]

The authors report a young infant who presented with failure to thrive and recurrent respiratory tract infections.The patient had bilaterally absent pinnae; instead small skin tags were present. [link.springer.com]

• Coarctation of the Aorta

  […] of the aorta,4 an atrial septal defect,37 an interventricular communication,15 and a truncus arteriosus and a ventricular septal defect.4 One patient had complex heart disease with dysplasia of the pulmonary and aortic valves and endocardial fibrosis [jmg.bmj.com]

• Increased Energy

  Several studies have reported on a decrease in BMI with or without reporting on an increased energy demand. [mdpi.com]

• Piebaldism

  Piebaldism-Waardenburg syndrome: Histopathologic evidence for a neural crest syndrome. Am J Med Genet 1988;31:679-88. 18. Ambi US, Adarsh ES, Hatti R, Samalad V. [e-fjs.org]

• Almond-Shaped Eyes

  He had short & broad nose, small mouth, wide philtrum, thin upper lip, hypertelorism, telecanthus and upward slanting almond shaped eyes (Fig. 2A). Ears were low set. Ophthalmologic & auditory examination revealed no abnormality. [molecularcytogenetics.biomedcentral.com]

Features That May Raise Suspicion for a Malignant and Heritable Form of ER Family history of sudden cardiac arrest or early unexplained death Personal evaluation and workup suggestive of a channelopathy (eg, short-QT syndrome, Brugada syndrome) Personal [ahajournals.org]

Sporadic episodes of nausea and vomiting were reported by four individuals, and were ameliorated without treatment [17]. [mdpi.com]

Minhas V, Crabtree KL, Chao A, Wojcicki JM, Sifuniso AM, Nkonde C, Kankasa C, Mitchell CD, Wood C Growth hormone treatment for growth failure in pediatric patients with Crohn's disease. [microbiome.ucsf.edu]

Terlipressin plus Albumin for the Treatment of Type 1 Hepatorenal Syndrome. N Engl J Med. 2021;384:818–828. doi: 10.1056/NEJMoa2008290. [PubMed] [CrossRef] [Google Scholar] 115. [ncbi.nlm.nih.gov]

Thus, initial treatment is usually directed on the lines of TCA or long-segment Hirschsprung's disease. [e-fjs.org]

With delay in diagnosis, prognosis is poor. Timely and appropriate referral is paramount. Patients with SWS have a higher incidence of long-segment Hirschsprung's disease or TCA as observed in all the cases in our study. [e-fjs.org]

RIFLE classification can predict short-term prognosis in critically ill cirrhotic patients. Intensive Care Med. 2007;33:1921–1930. doi: 10.1007/s00134-007-0760-6. [PubMed] [CrossRef] [Google Scholar] 145. [ncbi.nlm.nih.gov]

But, hydrothorax can occur in older and low-risk patients also. [24] Prompt initiation of thoracocentesis [21],[25] and multidisciplinary approach have been found to have favorable prognosis. [jhrsonline.org]

Prognosis of patients with ventricular fibrillation in out-of-hospital cardiac arrest in Hong Kong: prospective study. [ahajournals.org]

Etiology, diagnosis and treatment. The Journal of the American Dental Association, 132, 1402–1408.PubMedGoogle Scholar Morrison, P. J., Mulholland, H. C., Craig, B. G., et al. (1992). [link.springer.com]

Incidence and survival rate of bystander-witnessed out-of-hospital cardiac arrest with cardiac etiology in Osaka, Japan: a population-based study according to the Utstein style. [ahajournals.org]

Avoidant/Restrictive Food Intake Disorder: A Three-Dimensional Model of Neurobiology with Implications for Etiology and Treatment. Curr. Psychiatry Rep. 2017, 19, 54. [mdpi.com]

An uncommon etiology of isolated pleural effusion. The ovarian hyperstimulation syndrome. Chest 2000;118:256-8. [jhrsonline.org]

The etiology of NS in individuals without mutations in PTPN11 or KRAS (almost 50% of cases) is still unknown. Research aimed at identifying the other gene (s) responsible for NS is ongoing. 1. Allanson JE. [ijem.in]

Epidemiology and genetics of microtia-anotia: a registry based study on over one million births.Ann Genet 1989; 32(1) : 52–54. Google Scholar Moore K, Persaud TVU.The Developing Human. Clinically Oriented Embryology 6th edition. [link.springer.com]

We submit that a concerted effort to understand the epidemiology, prognostic associations, genetic underpinning, and biological basis of ER is warranted. [ahajournals.org]

Journal article | 2020 | Injury Prevention BACKGROUND: The epidemiological transition of non-communicable diseases replacing infectious diseases as the main contributors to .. [findanexpert.unimelb.edu.au]

Epidemiological study of congenital diaphragmatic defects with special reference to aetiology. Eur J Pediatr1991;150:726–9. ↵ King SJ, Pilling DW, Walkinshaw S. Fetal echogenic lung lesions: prenatal ultrasound diagnosis and outcome. [jmg.bmj.com]

Abstract Noonan syndrome is a genetically transmitted autosomal dominant disorder characterized by various anatomic anomalies and pathophysiologic derangements. [ncbi.nlm.nih.gov]

[…] mandatory criteria along with the presence of any one frequent feature confirms the clinical diagnosis.5 Ocular disorders reported with this condition include hyperopia, strabismus and nystagmus; however, entropion of eyelids has never been reported.6 7 The pathophysiology [casereports.bmj.com]

While the pathophysiology of acute compartment syndrome is well understood, numerous potential causes are still being discovered. A rare cause of acute compartment syndrome is IV infiltration. [hindawi.com]

Impact of Personalized Feeding Program in 100 NICU Infants: Pathophysiology-based Approach for better outcomes. Hepatol. Nutr. 2012, 54, 62–71. [Google Scholar] [CrossRef] [PubMed][Green Version] Dard, L.; Bellance, N.; Lacombe, D.; Rossignol, R. [mdpi.com]

We conclude that both routine evaluation for IV infiltration and proximal placement of IV lines are essential for prevention of acute compartment syndrome. 1. [hindawi.com]

Prevention of tachycardia due to sympathetic stimulation and stress response of anesthesia and surgery was our prime motive along with decrease of after load to prevent any complication.[11–13] We had planned for fiberoptic bronchoscopy and intubation [ncbi.nlm.nih.gov]

Journal article | 2020 | Injury Prevention BACKGROUND: Past research in population health trends has shown that injuries form a substantial burden of population health loss... [findanexpert.unimelb.edu.au]

Additionally, his lab is interested in developing prophylactic drugs called “microbicides” that can prevent or limit sexually transmitted HIV. [med.ucf.edu]

Mutational analysis (not done in our cases due to resource limitations) is crucial for gaining a better understanding of its pathogenesis, development of new strategies for the prevention and treatment. [e-fjs.org]