Sanfilippo syndrome is a group of rare, complex, and progressive neurodegenerative lysosomal storage disorders that is characterized by childhood dementia. The clinical management of patients with ...progressive neurological decline and multisystem involvement requires a multidisciplinary team with experience in the management of neurodegenerative disorders. Best practice guidelines for the clinical management of patients with these types of rare disorders are critical to ensure prompt diagnosis and initiation of appropriate care. However, there are no published standard global clinical care guidelines for patients with Sanfilippo syndrome. To address this, a literature review was conducted to evaluate the current evidence base and to identify evidence gaps. The findings were reviewed by an international steering committee composed of clinical experts with extensive experience in managing patients with Sanfilippo syndrome. The goal was to create a consensus set of basic clinical guidelines that will be accessible to and informed by clinicians globally, as well as providing a practical resource for families to share with their local care team who may not have experience with this rare disease. This review distills 178 guideline statements into an easily digestible document that provides evidence-based, expert-led recommendations for how to approach common management challenges and appropriate monitoring schedules in the care of patients with Sanfilippo syndrome.
Full text
Available for:
IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
Full text
Available for:
GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
3.
A new initiative to tackle childhood dementia Elvidge, Kristina L.; Smith, Nicholas J.; Hemsley, Kim M. ...
Molecular genetics and metabolism,
February 2021, 2021-02-00, Volume:
132, Issue:
2
Journal Article
Peer reviewed
Full text
Available for:
GEOZS, IJS, IMTLJ, KILJ, KISLJ, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UILJ, UL, UM, UPCLJ, UPUK, ZAGLJ, ZRSKP
The article reviews the recent evaluation evidence on financial services and training interventions designed to increase the productivity and income of the poor; it includes the subset of evaluations ...where women, with a couple of exceptions, constitute half or more of those in the sample. CGD Working paper series 456.
Although 85% of HIV-positive adolescents reside in sub-Saharan Africa, little is known about the psychosocial and mental health factors affecting their daily well-being. Identifying these contextual ...variables is key to development of culturally appropriate and effective interventions for this understudied and high-risk population. The purpose of this study was to identify salient psychosocial and mental health challenges confronted by HIV-positive youth in a resource-poor Tanzanian setting. A total of 24 qualitative interviews were conducted with a convenience sample of adolescents aged 12-24 receiving outpatient HIV care at a medical center in Moshi, Tanzania. All interviews were audio-recorded, transcribed, and coded using thematic analysis. Psychosocial challenges identified included loss of one or more parents, chronic domestic abuse, financial stressors restricting access to medical care and education, and high levels of internalized and community stigma among peers and other social contacts. Over half of youth (56%) reported difficulties coming to terms with their HIV diagnosis and espoused related feelings of self-blame. These findings highlight the urgent need to develop culturally proficient programs aimed at helping adolescents cope with these manifold challenges. Results from this study guided the development of Sauti ya Vijana (The Voice of Youth), a 10-session group mental health intervention designed to address the psychosocial and mental health needs of HIV-positive Tanzanian youth.
Full text
Available for:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
Objectives
To establish the prevalence of pain and functional disability in Irish adults with moderate and severe haemophilia, and to examine demographic and lifestyle influences.
Methods
Males ...≥18 years with moderate or severe haemophilia participated. Pain and function were examined using the PROBE questionnaire.
Results
Of 49 participants median age 44 (IQR 32, 52) years, most had severe haemophilia (Factor VIII = 30; Factor IX = 13) and were on regular prophylaxis (88%). Those with moderate haemophilia (Factor VIII = 5; Factor IX = 1) treated on demand (12%). Acute (72%) and chronic pain (71%), functional difficulties (58%), and analgesic requirements (92%) were prevalent. Age was significantly associated with more advanced haemophilic arthropathy (p = .002), chronic pain (p = .029) and functional difficulties (p = .036). Adults who reported chronic pain commenced prophylaxis significantly later in life 32 (20, 51) vs. 8 (1, 23) years; p = .004. Physical activity was significantly lower in those with functional difficulties (p < .05). A disparity between self‐perceived ‘target joints’ and clinically defined target joints was also identified (76% vs. 23%).
Conclusion
Haemophilic arthropathy, pain and functional disability were prevalent amongst Irish adults with moderate and severe haemophilia. Age‐dependent lifestyle, analgesic and treatment influences on pain and function warrant further investigation.
Full text
Available for:
BFBNIB, DOBA, FZAB, GIS, IJS, IZUM, KILJ, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBMB, SIK, UILJ, UKNU, UL, UM, UPUK
Introduction
Although the measurement of physical activity (PA) amongst people with haemophilia (PWH) has become increasingly widespread in recent years, the relationship between PA and bleeding ...phenotype remains poorly understood. In addition, the influence of various treatment regimens on this relationship has not been defined.
Aim
This review aimed to systematically assess the data that are available regarding PA levels amongst PWH, as well as the relationship between PA and bleeding.
Methods
A systematic search of the online databases EMBASE, Cochrane, MEDLINE Ovid, CINAHL and Web of Science was conducted by two independent reviewers. Quality assessment was undertaken using the AXIS Critical Appraisal Tool for Cross‐sectional Studies and the STROBE checklist.
Results
Of 1902 sources identified overall, 36 articles were included. Low‐to‐moderate transparency of reporting and various sources of bias were identified. PA levels varied amongst heterogeneous samples of PWH. The relationship between PA and bleeds was inconclusive, although there was evidence that improvements in treatment over recent decades have appeared to enable PWH to become more physically active.
Conclusion
Based upon the limited available evidence, the relationship between PA and bleeding phenotype in PWH remains unclear. However, with the development of improved prophylaxis treatment regimens in recent years, there is evidence that PA levels have increased, especially amongst people with severe haemophilia. The use of validated outcome measures of PA and more robust reporting of bleeds and treatment regimen are warranted in future research, especially in a rapidly evolving era of new treatments for PWH.
Full text
Available for:
DOBA, FZAB, GIS, IJS, IZUM, KILJ, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBMB, SIK, UILJ, UKNU, UL, UM, UPUK
The 20-year anniversary of the implementation of NICE TA1 - Guidance on the Extraction of Wisdom Teeth - arrived in March 2020. Since its implementation, impaction of erupted or partially erupted ...mandibular third molars and the associated increased caries risk in second molars has been a topic widely debated in both general practice and hospital settings. This has led to significant variation in the management observed. Radiographic examination of carious second molars with an associated impacted third molar is not routine and is commonly a coincidental finding following routine bitewing examination in an otherwise symptom-free, healthy mouth. Caries in mandibular second molars is a clear oversight in NICE guidance, with management decisions influenced by personal philosophy, clinical judgement and experience. NICE guidance is exactly that; guidance, an aid to help our and the patient's decision-making. Consideration should be given to caries risk assessment and the judicious use of radiographs as well as clinical expertise, taking account of patient values on a case-by-case basis when deciding if teeth should be kept or removed.
Full text
Available for:
EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
Background
Alveolar osteitis (AO) is widely reported as the most common post‐operative complication following surgical and non‐surgical exodontia. Despite being one of the most studied complications ...in dentistry, there is no established consensus on its aetiology, alongside a relative paucity of studies looking exclusively into AO incidence in children and adolescents.
Objectives
To determine the incidence, risk factors and pattern of presentation of AO in children and adolescents following exodontia, as well as identifying concepts and theories to provide a basis regarding why such a common post‐operative complication reportedly manifests so rarely in the paediatric population.
Methods
This cross‐sectional analysis forms part of a prospective service evaluation of the exodontia service provided by Newcastle Dental Hospital. All patients aged 5–16 who underwent dental extractions of deciduous and/or permanent teeth under general anaesthetic (GA) between 15 June 2020 and the 15 July 2020 were telephoned 1 week following their procedure to determine if any had developed post‐operative complications. Data were cleaned manually and analysed using descriptive statistics, exploratory analysis with chi‐squared tests and multivariable analyses. A scoping review was performed using the PubMed, OVID Medline and Scopus databases.
Results
Four of 150 patients (2.8%) developed AO and reported extreme pain which began 2–3 days after removal, lasted 2 days after onset, and were all associated with the non‐surgical removal of lower first permanent molar teeth. All patients who developed AO were female and aged between 9 and 10 years old. Mandibular sockets were significantly associated with development of AO (p = 0.026).
Conclusions
Despite the belief that AO rarely manifests in children, the incidence of paediatric AO in this study is in line with that of AO found in the adult literature. The literature is inconsistent and conflicting regarding current understanding of AO. As far as possible, an atraumatic approach to exodontia should be adopted. We have proposed four underlying concepts which may benefit from future research given the paucity of research exclusively into dry socket in children and adolescents.
Full text
Available for:
CMK, FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SBCE, SBMB, UL, UM, UPUK
Abstract Objectives To present an unusual presentation and diagnosis of CHARGE syndrome with vocal fold paralysis, a rarely associated congenital laryngeal anomaly, as the presenting feature. Case ...presentation A four-day old, full-term, male infant born via uncomplicated vaginal delivery with a nursery course significant for failed hearing screen presented to an emergency department (ED) with respiratory distress and worsening stridor. He was transferred to a level III neonatal intensive care unit (NICU) for further evaluation and required intubation due to progressive hypercarbia. Laryngoscopy revealed left-sided unilateral vocal fold paralysis (VFP). He underwent further evaluation that included a normal MRI brain, neck and chest. Genetics was consulted with concern for dysmorphic features on physical exam. Following gene panel testing, VFP was attributed to known association with CHARGE syndrome. Airway edema was noted on laryngoscopy that prevented extubation until two months of age. Further features of CHARGE syndrome identified included colobomas, glaucoma, sensorineural hearing loss, and genital abnormalities. He was discharged in room air and following gastrostomy tube placement with otolaryngology follow up. Conclusions Although choanal abnormalities are classically associated with CHARGE syndrome, other upper airway anomalies such as VFP may be present. VFP is a rarely reported anomaly in association with CHARGE syndrome (Naito Y, Higuchi M, Koinuma G, Aramaki M, Takahashi T, Kosaki K. Upper airway obstruction in neonates and infants with CHARGE syndrome. Am J Med Genet 2007;143A:1815–20; Morgan D, Bailey M, Phelps P, Bellman S, Grace A, Wyse R. Ear-nose-throat abnormalities in the CHARGE association. Arch Otolaryngol Head Neck Surg 1993;119:49–54).
PDF
