Operative Airway Exposure in an Otolaryngology-Head and Neck Surgery Training Program. A Survey of Current Trainees.

To survey Otolaryngology residents to evaluate their operative airway exposure during their training and to assess if the exposure was adequate to decide whether to pursue fellowship in pediatric. A modified and validated survey was distributed among otolaryngology trainees in the Western region of Kingdom of Saudi Arabia. It assesses operative airway exposure during training, adequacy of experience to decide on whether to pursue fellowship in pediatric otolaryngology, and plan to perform the following six procedures (diagnostic rigid bronchoscopy, diagnostic flexible bronchoscopy, endoscopic airway foreign body removal, rigid esophagoscopy with or without foreign body removal, suspension microlaryngoscopy procedures, open tracheostomy) in practice. Only 24/60 (60%) of respondents perceived that they had adequate training as to whether or not to make them decide to pursue fellowship in pediatric. In regard to over all assessment of the level of exposure: the vast majority of trainees regarded the training as adequate 30/60 (50%), 3/60 (5%) thought it was excellent, 6/60 (10%) thought it was good, and 21/60 (35%)assessed the training adequacy as poor. 24/33 (72.7%) perceived that the presence of a pediatric fellow with them enhanced their training. In regards to performing surgeries after training, 78% were planning to perform rigid bronchoscopy, flexible bronchoscopy (58%), endoscopic airway FB removal (92%), esophagoscopy (54%), suspension microlaryngoscopy (82%), and open tracheostomy (100%). The presence of a pediatric fellow in service was thought of by most residents as being beneficial, however, the exposure to airway surgeries were not adequate as to inform trainees if they want to pursue fellowship in pediatric, when they were not exposed to a fellow.

Urea cycle disorder misdiagnosed as multiple sclerosis: a case report and review of the literature.

Urea cycle disorders are a group of inborn errors of metabolism caused by dysfunction of any of the six enzymes or two transport proteins involved in urea biosynthesis. In this paper, we report a patient who presented with neurological dysfunction and coma in the immediate postpartum period. She was misdiagnosed for many years as a case of multiple sclerosis. The importance of reporting this case is to illustrate that the wrong diagnosis of patients as being affected with multiple sclerosis for many years due to magnetic resonance imaging abnormalities rather than the classic relapsing-remitting nature of the disease may lead to catastrophic consequences. The patient was treated with intravenous steroids several times, which is contraindicated in patients with urea cycle disorders as it may precipitate acute hyperammonemic attacks. In addition, the management of urea cycle disorder could have started earlier and avoided multiple admissions to the intensive care unit. We believe that the presence of symmetric hyperintense insular cortical changes are seen in multiple hyperammonemic processes, and in the context of the clinical presentation and high ammonia levels can be suggestive of a urea cycle disorder. For any patient presenting with atypical clinical features, images should be reviewed and discussed in detail with an experienced neuroradiologist. In addition, the ammonia levels should be checked if a urea cycle disorder is suspected.

The potential effect of technology and distractions on undergraduate students' concentration.

BACKGROUND AND OBJECTIVES: In the present era, it is difficult to keep the concentration of college students at its maximum potential during the class time, as there are many distractions that negatively impact students' concentration and prevent optimal learning. Technologies such as laptops and cell phones have invaded the classroom, raising considerable concerns about their effects on college students' attention in the classroom. Despite these concerns, no research has been done in Saudi Arabia on the effects of technology and other types of classroom distractions on students' concentration. In the current study, we have attempted to identify students' perceptions of major distractions in the classroom based on seventeen internally (self-produced) and twenty-four externally produced classroom situations. METHODS: The students participating in this study rated the degree to which each distraction interferes with their concentration on the class materials and their ability to learn. Data were collected through surveys of 265 students (66 and 199 students from medical and basic classes, respectively), including 97 females and 168 males 17-23 years of age from the academic years 2010 to 2014. A validated self-administered questionnaire was handed to the students in the classroom. The students were asked to report and rate the classroom distraction produced by 24 external internal distracters (Table-II), on a 5-point scale. RESULTS: The results revealed that ringing cell phones in the class were the most commonly reported electronic external distractor for 68% of students, and 21% of them reported being extremely distracted by this noise. Having an instructor who is difficult to understand was the most commonly reported external behavioral distractor for 75% of students, and 48% of them rated this as extremely distracting. Students talking in class were the most self-produced distractor for 72% of students; negatively impacting their concentration and ability to learn, and 42% of them rated it as an extreme distractor. Wearing clothing with unusual words, drinking and eating in the classroom were minimally distracting colleagues. Overall, distractions (internal and external) were more significant for fifth-year students than the other years at a p-value < 0.001. CONCLUSION: Students believed that laptop and cell phone use in the classroom can effect their concentration and ability to learn. The students also felt that inappropriate behavior is a major distraction for students as well, and thus necessitates monitoring and improvement.

A delayed presentation of homozygous protein C deficiency in a series of children: a report on two molecular defects.

Pediatric emergency visits with purpura fulminans should raise the suspicion of hereditary homozygous protein C deficiency even beyond the neonatal age. The absence of this classical finding does not role the diagnosis out as atypical presentation with isolated intraocular bleeding was observed. Premarital counseling should be offered when family history suggests.

Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family.

Autosomal Recessive Cerebellar Ataxia type 1 (ARCA1), also known as recessive ataxia of Beauce, is an adult onset pure cerebellar ataxia that typically presents with cerebellar ataxia and/or dysarthria. A mutation in the synaptic nuclear envelope protein 1 (SYNE1) gene that is located on chromosome 6p25 results in premature termination of the protein. It was first reported in 2007 as the first identified gene responsible for a recessively inherited pure cerebellar ataxia. In this article, we are presenting two brothers with ARCA1 who were misdiagnosed and treated as multiple sclerosis for more than a decade. We are not only presenting a rare mutation in a Saudi family, but we are also expanding on the heterogeneity of the clinical presentation of this disorder and elaborating on the pathophysiology of neurological involvement. These cases illustrate that white matter abnormalities on MRI may occur in ARCA1. The clinical and radiological spectrum of ARCA1 indicate that this disease is more than a pure cerebellar degeneration. ARCA1 should be considered in the differential diagnosis of patients diagnosed with MS especially in the presence of strong family history. The disease is gradually progressive, and clinical features are atypical for MS. Applying diagnostic criteria for MS is extremely important for confirming or excluding the diagnosis. Detailed history and physical examination are of paramount importance to score the final diagnosis. Another less likely possibility is a chance association, which may question the biological relevance of our data. To confirm or exclude this possibility, further studies reporting different cohorts need to be conducted.

Pseudohypoaldosteronism in a Neonate Presenting as Life-Threatening Hyperkalemia.

Context. Pseudohypoaldosteronism type 1 (PHA1) is a life-threatening disease that causes severe hyperkalemia and cardiac arrest if not treated appropriately or if diagnosis is missed. Objective. To report a case of a newborn with vomiting and lethargy, ultimately diagnosed with pseudohypoaldosteronism. Patient. This case presented to the ED at an age of 14 days in hypovolemic shock. There was a family history of sudden infant death, her sister who was diagnosed with CAH and passed away at 3 months of age despite regular hormone replacement. Our patient had cardiac arrest in ED, due to hyperkalemia; while receiving fluid boluses, cardiopulmonary resuscitation was initiated. After stabilization, diagnostic workup demonstrated persistently low sodium, acidosis, and high potassium, which required peritoneal dialysis. Based on these findings, the patient was diagnosed with CAH. It turned out later that the patient had PHA1. Two years later, the patient had a new sibling with the same disease diagnosed at birth and started immediately on treatment without any complication. Conclusions and Outcome. This case highlights the significant diagnostic and therapeutic challenges in treating children with PHA1. Adrenal crisis is not always CAH; delayed diagnosis can lead to complication and even death. The presence of high plasma renin activity, aldosterone, and cortisol, along with the presence of hyponatremia and hyperkalemia, established the diagnosis of PHA type 1 and ruled out CAH.