A Girl from Qatar with Post-Infantile Acquired Cerebral Palsy Caused By Submersion Injury: A Rare Etiology and a Therapeutic Challenge

Background: Cerebral palsy is a heterogeneous disorder that can cause a lifelong disability that is associated with a non-progressive damage in the brain. It is commonly caused by antenatal, perinatal, early postnatal and neonatal conditions. However, post-neonatal cases of acquired cerebral palsy have also been reported, and were commonly caused by infection. Patients and methods: The family of a girl from Qatar, who developed severe cerebral palsy caused by submersion injury, consulted us about the possible therapies for her condition. Clinical picture and brain imaging abnormalities are described, and the relevant literatures were reviewed with the aim of suggesting possible evidence-based therapies. Results: At the age of 23 months, a previously healthy girl developed anoxic encephalopathy after experiencing submersion injury. MRI showed evidence of significant hypoxic ischemic injury primarily affecting the deep grey matter, hippocami, mid-brain and the posterior cortex. EEG showed diffuse slowness of cerebral activity and diffuse attenuation of the background without no epileptic abnormalities suggesting diffuse encephalopathy resulting from diffuse cortical injury. At the about age of three and half years, her family consulted us about her condition as she was still showing no awareness to the environment, showing no significant spontaneous movements. She had poor head control. Unable to sit or stand alone, and had a flexed posture. She was on levetiracetam (Keppra), diazepam, and baclofen 30 mg daily. She was still having tracheotomy, and was fed through gastrostomy tube. Conclusion: In this paper, the rare occurrence of severe post-infantile cerebral palsy is described. Emphasis is made on the possibility of using evidence-based multi-factorial therapies in cerebral palsy.

Reducing Waiting Time in the General Pediatric Clinic at Al Wakra Hospital, Qatar

Background: Waiting times for clinic appointments constitute a key indicator of an outpatient department performance for access to care and patient satisfaction. This is particularly relevant for pediatric population. The Ministry of Public Health in Qatar set a waiting time of 28 days for patients to get new appointment in General Outpatient Department (GOPD). The current average waiting time to get a new appointment in the general pediatric clinic (GPC) at AWH is 57 days. Aim: Decrease the average waiting time to get a new clinic appointment from 57 days to 28 days by the end of December 2018, and to meet the national targets set by the Ministry of Public Health. Methodology: This is a Quality Improvement (QI) project using the Model for Improvement (MFI). The MFI framework is designed to support organizations answering fundamental questions before agreeing on drivers for change. The implementation of change was be facilitated by the Plan-Do-Study-Act (PDSA) cycles methodology. The QI project team performed a root cause analysis using the Ishikawa diagram and identified the key contributing factors to the long waiting times to get a new appointment. Twenty-seven PDSA cycle ramps were designed with support of predictive tool to test innovative changes in current operational processes in an attempt to improve waiting time in the general pediatric clinic at Al Wakra Hospital. Results: The monthly average number of referrals for GPC increased by 200% between the pre and post implementation periods. The average triage waiting time improved from 6 to 2.6 days in 2018 and the average become 1 day in 2019. Post-implementation the average waiting time for patients to get new appointment improved from 57 days to 28 days in 2018 and the average waiting time improved to 16 days in 2019. Conclusion: The quality improvement project for the AWH general pediatric clinic demonstrates significant improvement in waiting times for new appointments, the recommendation for the hospital leadership would be to rollout the improvement methodology to other clinics that suffer from similar challenges.

Case report of a de novo mutation of PCDH19 in Saudi family limited to females

Up to date more than 60 different mutations in PCDH19 have been identified. Most of PCDH19 gene is located in Xq22 and produces nonclustered delta protocadherin. This disorder primarily manifests in heterozygote females due to random X chromosome inactivation leading to somatic mosaicism and abnormal cellular interference between cells with and without delta-protocadherin., but we a heterozygous nucleotide mutation causing amino acid 561 to change from Pro to Ser (p.Pro561Ser). This mutation was de novo, and this alteration was not found in her parents. PCDH19-related epilepsy is a distinct childhood-onset epilepsy syndrome characterized by brief clusters of febrile and afebrile seizures with onset primarily before the age of three years, cognitive impairment, autistic traits, and behavioral abnormalities. We describe the features of a de novo mutation in 3 sibling, presented with early onset of seizure, two of them were controlled and wean off medication was at age of six year and her sister at age of 10 year .The youngest sister still partially controlled on medication, she had seizure only during febrile illness.

Acute HBV Related ALF- Successful Outcome with Oral Antiviral Treatment

Case report: We present a young female of fourteen years who was admitted to the hospital with short duration of Icterus, malaise, vomiting and diagnosed to be having acute hepatitis B. She went into acute liver failure as evidenced by development of hepatic encephalopathy and coagulopathy. She was managed on lines of hepatic encephalopathy along with oral antiviral treatment. She recovered successfully and was discharged after two weeks in heamodynamically stable condition. After a gap of six months, she became Hepatitis B surface (HbsAg) & hepatitis B e-antigen (HbeAg) negative and Hepatitis B Virus DNA (HBV DNA) was undetectable with normal liver function tests. She is on regular follow up for last one year and is absolutely normal. Conclusion: Acute hepatitis B can go into acute liver failure in 1% of cases, treatment for which includes liver transplantation and oral antiviral treatment which is especially helpful in cases who cannot afford liver transplantation, as was in our case.

Dyslexia and Cerebral Dysfunction

Children with slow visual-motor responses to visual-temporal response tests also have brain dysfunctions in the mobile and motor areas (6, 4). If the left parietal cortex does not participate in these dysfunctions, then this child will also have difficulties in reading. Furthermore, we could say that the brain dysfunctions that are detected by visual-motor tests and that the performance in them is low, are accompanied by difficulties in reading. Aim: In this study we want to show the function of the child's brain in dyslexia. Method: We followed the most up-to-date literature on the subject: neuropsychology and dyslexia. Conclusions: brain organization and its relationship to dyslexia is a major problem for Neuropsychology and Neurolinguistics.

Influence of nicotine upon human brain metabolism, an in vivo noninvasive Near Infrared Spectroscopy (NIRS) study

Nicotine, a natural alkaloid derived from tobacco, is involved in various outcomes ranging from addiction to toxicity and/or neuro-protective actions. Nevertheless, the literature on the effects of nicotine administration upon the activity of brain regions is mixed; either increased, decreased, or no overall effect was reported when being evaluated by various methodologies such as positron emission tomography (PET), functional Magnetic Resonance Imaging (fMRI). In this work, Near Infrared Spectroscopy (NIRS) is applied as it allows monitoring oxygen saturation in the living tissue as well as changes in oxygenation of hemoglobin and when applied on brain studies, it gives indications of cerebral haemo-dynamics as well as brain metabolism. In particular, here NIRS has been applied in human volunteers as this methodology is based upon the use of harmless radiations so that to provide a non-invasive, non-ionizing procedure to monitor 2 main forms of hae­moglobin: oxy-haemoglobin (HbO2) and deoxy-haemoglobin (Hb). The data gathered indicate an overall positive influence of nicotine upon HbO2 levels, as well as total blood volume (V) therefore suggesting an increased brain metabolism. Finally these data further propose NIRS with its characteristics of noninvasiveness, easy to-use, portable, restraint-free therefore relatively psychologically undemanding, as replicable and ideal methodology for clinical applications and translational approaches.

Vitamin K deficiency under enteral feeding: real or imagined threat

Patients receiving enteral feeding may develop vitamin K deficiency if the nutrition formula does not meet their daily vitamin K requirement. Vitamin K is essential for clotting factors II, VII, IX and X to be released in their functional form. Under vitamin K deficiency a coagulopathy may develop which is marked by prolongation of the prothrombin time (PT). There might be a need, unrecognized to-day, for monitoring the PT in patients receiving enteral feeding to unmask a latent coagulopathy. We assessed the prevalence of a prolonged PT in patients receiving enteral feeding for 3 months of more with one or a combination of the enteral formulas Osmolite®, Jevity®, Easymilk®. Twenty-three residents in long-term hospital care received solely enteral feeding for an average of 37 months, SD 21 months. The median daily vitamin K supplied by enteral feeding was 96.8 mcg (average 103.3 mcg, SD 28.8); this does not satisfy the 150 mcg of vitamin K required by the Food and Drug Administration. In 21 patients the PT-INR was 1-1.2 (normal). The PT was prolonged in two patients. In one of the latter, prolongation of PT-INR was not confirmed two days later. In the second case, the patient having repeatedly a PT-INR 1.4 (and a normal APTT), administration of vitamin K did not correct the PT. In conclusion, long-term vitamin K-deficient nutrition did not affect the vitamin K-dependent coagulation. This data may argue against the supposed need to monitor the PT in patients receiving long-term enteral nutrition.

Mind’s selective attention to previous experience

The basic arguments for a mental image model of thought are based on neuropsychological evidence. France (2000) found that the same brain regions are activated during both mental representation and actual perception, while Bishiah (1993) found that brain traumas that affected perception, also affected the ability to create mental images. Pylyshyn(2003) on the other hand, argues that all mental images are guided by ‘’cognitive penetrability’’, thus on their very basis, are manipulated by certain propositional elements. Given this difficulty, Kargopoulos (2009) hinted towards further research, featuring shapes and solid objects, for which subjects have no priorextensive knowledge. This would force subjects to use non-semantic strategies of representation, meaning mental imagery. Hinton’s (1979) cube problem conforms to these requirements. Hinton’s problem aligns with the idea that spatial tasks (especially tasks with cubes that change layout) are guided by propositional cues (our knowledge about squares) and supports Pylyshyn’s position. Using one of the simplest objects, a cube, Hinton showed that as soon as this shape changes its mental arrangement in space, even suspicious -as to the nature of the experiment- participants will make mistakes that are not present when they manipulate a mental image of the cube sitting on its typicalarray. Aim: Our goal was to investigate the relationship between spatio-visual skill and the ability for mental partitioning in healthy subjects. Methodology: We used 2 groups (344 participants) a control and an experimental one. In the control group, we presented a Moebius’ strip, in the experimental group, we presented the same Moebius’ strip and asked them to mentally represent it. All participants asked to mentally partition the strip. Results: Of the 344 participants, only 31 managed to give the correct number of vertices in space. Though people had a hard time manipulating the cube’s mental image, their success rates were much higher for the Hinton 1 task in which propositional representation was more accessible. Only 9 of the 344 participants could find the correct answer for the Moebius strip task in which mental manipulation of the strip image was impossible. Conclusions: We come to the conclusion that the relationship between ‘’seeing’’ and ‘’knowing’’ is more complex, not just on the level of the mental image level but also on the level of perception. Our findings bring back to the scientific background the idea that the mind’s selective attention to previous experience and cognitive schemas will decidedly affect human thought.

Digital Therapeutics Hold a Promising Prospect in the Healthcare Sector – Explore How

The treatments of several diseases are evolving continuously towards a digital future indeed. Digital therapeutics use digital technologies to prevent, manage, or cure physical and mental health conditions. In the past ten years, the outcomes from digital therapeutics in a broad range of symptoms, such as cancer, ADHD, asthma, mental disorders, and insomnia have improved to a great extent, thereby making it more popular around the world.

Caudal Regression Syndrome

Caudal Regression Syndrome (CRS) is a rare malformation syndrome associating to varying degrees agenesis of the coccygeal or lumbosacral vertebrae.This vertebral anomaly can therefore be reduced clinically to a simple coccygeal agenesis without any deficit or even lumbosacral agenesis accompanying a clinical picture with sphincter disorders associated or not with transit disorders and various deficits involving the lower limbs.This syndrome is accompanied by other orthopedic malformations such as shortening of the lower limbs, and / or gastrointestinal abnormalities, see also genitourinary as well as cardiovascular.Its incidence is 1 to 5 cases per 100,000 births. Its precise cause has not yet been identified, but its relationship to maternal diabetes is well established. We report in our study 5 patients with CRS from different clinics whose sphincter disorders were found in the foreground in all our patients and whose results vary according to the inaugural clinical picture. MRI made it possible to refine and confirm the diagnosis highlighting the congenital anomaly and the associated lesions.We have obtained 75% good results and 25% clinical stabilization; nor do we deplore any case of aggravation or death. The interest is to suspect the diagnosis of CRS; document it at the start of the prenatal period and determine its severity and associated abnormalities in order to present options for patient management; because once the diagnosis is made, surgical treatment becomes imperative due to the formidable neurological sequelae compromising the functional prognosis.