What is the Besinger Score?
Discussion Myasthenia gravis (MG) is a rare disease in the pediatric population. The incidence depends on the population studied but is estimated at 1-9/1 million/year. It was first described by William Heinrich Erb in 1879. The cause is autoantibodies against components of the post-synaptic membrane of the neuromuscular junction, usually against the acetylcholine binding receptor (AChR). It can occur at any age but is more common in the adult population. Juvenile patients (0-19 years) are divided into prepubertal (12 years) who have disease presentations similar to the adult population. In adults there are 5 grades: ocular symptoms, mild, moderate, severe and very severe. MG symptoms include: Ocular symptoms are common Ptosis – uni- or bilateral, children may tilt head to see Ophthalmoplegic facial weakness – lid twitch, strabismus Facial/bulbar weakness Masked facies Chewing and swallowing problems Speech problems Coughing and coughing insufficiency Respiratory symptoms Respiratory insufficiency Peripheral symptoms (proximal symmetrical weakness) Exercise intolerance Fatigability Difficulty with climbing stairs, rising from seated position, personal hygiene Worsening of symptoms with Exercise Fever or infection Elevated temperature Medication Symptoms often improve with rest such as sleeping with improved symptoms at night or early in the day. Prepubertal children usually present with ocular symptoms (which can wax/wane) such as ptosis, blurred or ...
We report the case of a 17-year-old patient with recurrent hemorrhagic pericardial effusion, who was diagnosed with primary pericardial fibrosarcoma. However, multiple radiological examinations, including CT and [18F] FDG/PET-CT, suggested the presence of fluid and no sign of tumor. Actually, when a patient presents with recurrent hemorrhagic pericardial effusions, pericardial tumors must be taken into account as part of the differential diagnosis.
CONCLUSIONS Our study described rare diseases in Chinese patients and our results enrich the phenotype spectrum of related diseases, as well as mutation spectrum of related genes, which might be significant for clinical disease diagnosis and prenatal diagnosis. PMID: 31603145 [PubMed - in process]
Authors: Horton R, Lucassen A Abstract Introduction: Clinical practice and research are traditionally seen as distinct activities that are governed by different principles and processes. Innovative technologies such as genomic testing challenge this model, involving many activities that cannot be easily categorized as purely research, or purely clinical care. Areas covered: We discuss the interdependence of research and clinical practice in the context of genomics, for example, when determining the significance of rare genetic variants, or diagnosing newly described rare diseases. We highlight the potential of the ...
Authors: Colbaugh R, Glass K, Rudolf C, Tremblay Volv Global Lausanne Switzerland M Abstract There is increasing interest in developing prediction models capable of identifying rare disease patients in population-scale databases such as electronic health records (EHRs). Deriving these models is challenging for many reasons, perhaps the most important being the limited number of patients with 'gold standard' confirmed diagnoses from which to learn. This paper presents a novel cascade learning methodology which induces accurate prediction models from noisy 'silver standard' labeled data - patients provisionally label...
We present a pragmatic approach to clinical trial design that may inform the approach to other rare disorders.
Testicular germ cell tumor (TGCT) is a relatively rare disease, accounting for nearly 1% of all cancers in men. The etiology of the disease may involve a series of complex epigenetic and genetic changes which may act synergistically and transform the primordial gonocyte. Interestingly, it is proposed that TGCTs do arise from the same cell, the primordial germ cell, sharing specific gene expression profiles and epigenetic patterns . Once TGCT appear at a germ cell development time, in which a genome-wide methylation removal occurs, a malfunction in the reestablishment of these marks, could lead to incorrect epigenetic re...
Publication date: Available online 11 October 2019Source: Journal of American Association for Pediatric Ophthalmology and StrabismusAuthor(s): Sunju Park, Carly Moskowitz, Jee-Young Moon, Brooke Geddie, Erin Walsh, Jamie B. Rosenberg
ConclusionMLL remains to be underdiagnosed. Due to the obesity epidemic, clinicians must be aware of this once rare disease. The role of concurrent bariatric surgery with surgical resection of MLL warrants further studies.
CONCLUSIONS: Mammography and ultrasound remain the leading modalities in breast imaging among males for diagnostic workup of palpable mass, with gynecomastia being the predominant diagnosis. However, presentation with palpable mass was also associated with malignancy. Despite a notable MBC rate in our cohort, the likelihood of cancer is low in young patients and in cases of gynecomastia. PMID: 31599508 [PubMed - in process]
We report a case of emphysematous esophagitis and gastritis with complete affectation of the gastric and esophageal wall at diagnosis. Two surgical interventions were performed due to gastric perforation that was treated in both cases with primary closure. The post-operative recovery was satisfactory. Despite the large emphysematous esophago-gastritis affectation at diagnosis and the presence of gastric perforation, it is safe to perform the same management principles as with emphysematous gastritis. This should be as conservative as possible in case a surgical procedure is required. PMID: 31599641 [PubMed - as supplied by publisher]
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