scholarly journals Pediatric Delayed Union in the Presence of WAGR Syndrome

Author(s):  
Matthew Antonucci ◽  
James A Wright

In this study, we present the management of an intra-articular fracture in a 13-year-old boy with WAGR Syndrome, an extremely rare genetic disorder. The goal of this study is to provide possible solutions to the complex pain management requirements presenting in the setting of trauma to the right lower extremity. Given the scarcity of literature available with regard to this condition, we not only aim to increase awareness of the disease, but provide insight into trauma management and expected outcomes.

2020 ◽  
Vol 17 (1) ◽  
pp. 56-69
Author(s):  
Aishath Muneeza ◽  
Zakariya Mustapha

Limitations of action designate extent of time after an event, as set by statutes of limitations, within which legal action can be initiated by a party to a transaction. No event is actionable outside the designated time as same is rendered statute-barred. This study aims to provide an insight into application and significance of Limitations Act 1950 and Limitation Ordinance 1952 to Islamic banking matters in Malaysia as well as Shariah viewpoint on the issue of limitation of action. In conducting the study, a qualitative research methodology is employed where reported Islamic banking cases from 1983 to 2018 in Malaysia were reviewed and analysed to ascertain the application of those statutes of limitations to Islamic banking. Likewise, relevant provisions of the statutes as invoked in the cases were examined to determine possible legislative conflicts between the provisions and the rule of Islamic law in governing the right and limitation of action in Islamic banking cases under the law. The reviewed cases show the extent to which statutes of limitations were invoked in Malaysian courts in determining validity of Islamic banking matters. The limitation provisions so referred to are largely sections 6(1)(a) and 21(1) Limitations Act 1953 and section 19 Limitation Ordinance 1953, which do not conflict with Shariah viewpoint on the matter. This study will prove invaluable to financial institutions and their customers alike in promoting knowledge and creating awareness over actionable event in the course of their transactions.


Author(s):  
Deep K. Datta-Ray

The history of Indian diplomacy conceptualises diplomacy racially—as invented by the West—and restrictively—to offence. This is ‘analytic-violence’ and it explains the berating of Indians for mimicking diplomacy incorrectly or unthinkingly, and the deleting, dismissing, or denigrating, of diplomatic practices contradicting history’s conception. To relieve history from these offences, a new method is presented, ‘Producer-Centred Research’ (PCR). Initiating with abduction, an insight into a problem—in this case Indian diplomacy’s compromised historicisation—PCR solves it by converting history’s racist rationality into ‘rationalities’. The plurality renders rationality one of many, permitting PCR’s searching for rationalities not as a function of rationality but robust practices explicable in producer’s terms. Doing so is exegesis. It reveals India’s nuclear diplomacy as unique, for being organised by defence, not offence. Moreover, offence’s premise of security as exceeding opponent’s hostility renders it chimerical for such a security is, paradoxically, reliant on expanding arsenals. Additionally, doing so is a response to opponents. This fragments sovereignty and abdicates control for one is dependent on opponent’s choices. Defence, however, does not instigate opponents and so really delivers security by minimising arsenals since offence is eschewed. Doing so is not a response to opponents and so maintains sovereignty and retains control by denying others the right to offense. The cost of defence is courage, for instance, choosing to live in the shadow of nuclear annihilation. Exegesis discloses Balakot as a shift from defence to offence, so to relieve the Bharatiya Janata Party’s (BJP) leadership of having to be courageous. The intensity of the intention to discard courage is apparent in the price the BJP paid. This included equating India with Pakistan, permitting it to escalate the conflict, and so imperiling all humanity in a manner beyond history.


2021 ◽  
Vol 9 ◽  
pp. 2050313X2110030
Author(s):  
Asfandyar Mufti ◽  
Muskaan Sachdeva ◽  
Khalad Maliyar ◽  
Marissa Joseph

Background: Hereditary haemorrhagic telangiectasia is an autosomal dominant genetic disorder characterized by abnormalities in blood vessel formation. The clinical manifestations of patients affected with hereditary haemorrhagic telangiectasia include mucocutaneous telangiectasias and visceral arteriovenous malformations. Case Summary: We report the case of a 30-year-old female diagnosed with hereditary haemorrhagic telangiectasia presenting with the classic triad of recurrent epistaxis, mucocutaneous telangiectasias and family history of hereditary haemorrhagic telangiectasia with activin receptor-like kinase 1 mutation. Upon skin examination, she was noted to have telangiectasias under left naris, inner lower lip and surface of the tongue, and a vascular malformation on the right forearm. Conclusion: Although the skin involvement and epistaxis may be mild symptoms and signs of hereditary haemorrhagic telangiectasia, timely recognition of these can ensure vigilant monitoring of potential severe complications from cerebral and pulmonary visceral arteriovenous malformations.


2019 ◽  
Vol 3 (Supplement_1) ◽  
Author(s):  
Andrea Warren ◽  
Edward Frongillo ◽  
Shana Alford ◽  
Erin McDonald ◽  
Jessica Escobar-Alegria

Abstract Objectives The objective of this study was to understand needs among seniors for food and food assistance and to develop a comprehensive taxonomy for these needs. Methods A total of 147 seniors were purposively sampled from 12 food-assistance programs in 9 states. Of the 12 programs, 10 provided unprepared foods and 2 provided pre-cooked meals. Data were semi-structured qualitative interviews. Coding and analysis of transcripts followed an inductive qualitative analysis approach. A series of thematic summaries were prepared to reflect the content of the interviews for discussion and refinement of the analytic approach. Results An emergent taxonomy comprised 3 categories consisting of abilities and ranges or variants of those abilities. The category of physical ability consists of physical strength, the ability to prepare food, the ability to walk or stand, and health status. These relate to an individual's functional abilities to live and act independently and may be considered pre-conditions for program uptake and benefit distinct from dietary and food security-related needs and limitations. The category of consuming food consists of preferences, accessibility, affordability, and dietary needs. This category highlights the relationship between economic constraints and dietary needs that often necessitates meaningful tradeoffs in consuming the right foods for their health. The category of access and use of transportation consists of own means, friends or family, and public or private services. This category highlights challenges in accessing programs and provides insight into seniors’ experiences of poverty, declining functional abilities, social networks and connectedness, geography, and public services. Conclusions The process used to develop the taxonomy and the taxonomy itself provide an exemplar for implementation research when the nature of need is complex and programs integrated across sectors are required to address the need. The taxonomy provides structure to facilitate the identification of key factors in program engagement—and insight into the economic and social environments in which they occur—that translate into needs relevant to the design, targeting, and uptake of food assistance in a diverse population of seniors. Funding Sources Enterprise Rent-a-Car Foundation.


2020 ◽  
pp. 108705472096456
Author(s):  
Yue Yang ◽  
Gang Peng ◽  
Hongwu Zeng ◽  
Diangang Fang ◽  
Linlin Zhang ◽  
...  

Objective: The present study aimed to examine the effects of SNAP25 on the integration ability of intrinsic brain functions in children with ADHD, and whether the integration ability was associated with working memory (WM). Methods: A sliding time window method was used to calculate the spatial and temporal concordance among five rs-fMRI regional indices in 55 children with ADHD and 20 healthy controls. Results: The SNAP25 exhibited significant interaction effects with ADHD diagnosis on the voxel-wise concordance in the right posterior central gyrus, fusiform gyrus and lingual gyrus. Specifically, for children with ADHD, G-carriers showed increased voxel-wise concordance in comparison to TT homozygotes in the right precentral gyrus, superior frontal gyrus, postcentral gyrus, and middle frontal gyrus. The voxel-wise concordance was also found to be related to WM. Conclusion: Our findings provided a new insight into the neural mechanisms of the brain function of ADHD children.


1964 ◽  
Vol 13 (2) ◽  
pp. 108-110
Author(s):  
K. Toguchida ◽  
K. Hasegawa ◽  
K. Yamaguchi ◽  
H. Setani ◽  
Y. Fukushima

2011 ◽  
Vol 17 (4) ◽  
pp. 466-471 ◽  
Author(s):  
C. Van Went ◽  
A. Ozanne ◽  
G. Saliou ◽  
G. Dethorey ◽  
I. De Monchy ◽  
...  

Hereditary Haemorrhagic Telangiectasia (HHT) is a genetic disorder responsible for cutaneous or mucosal telangiectasia and arteriovenous malformations (AVMs). The most frequent locations are lung and brain. In contrast, orbital AVMs are very rare. We describe a case of symptomatic orbital arteriovenous malformation due to spontaneous thrombosis. A 65-year-old woman was referred for chronic right eye proptosis associated with dilation of conjunctival vessels with a jellyfish pattern. Right visual acuity was 20/40 and intraocular pressure was 40 mmHg. Personal and familial history of recurrent epistaxis, associated with multiple telangiectasia within lips and palate, led to the diagnosis of HHT. Magnetic resonance imaging (MRI) completed with cerebral angiography found a giant and occluded AVM within the right orbit. Other AVMs were also found in brain and chest, confirming the diagnosis. Antiglaucomatous eyedrops were added to reduce intraocular pressure and a steroid therapy was begun. Two months later, visual acuity decreased in the right eye, due to a central retinal vein thrombosis. In conclusion, Most brain or pulmonary AVM can be treated by embolization. By contrast, this treatment in case of orbital location can lead to central retinal artery and/or central retinal vein occlusion, which may also appear as a spontaneous complication of the orbital AVM. Therapeutic management of orbital AVM is thus not standardized, and the balance between spontaneous and iatrogenic risk of visual loss has to be taken into account.


Author(s):  
Iveta Golubovska ◽  
Aleksejs Miščuks ◽  
Ēriks Rudzītis

Abstract The aim of this study was to evaluate the intensity of pain in orthopaedic hospital patients and to identify unsatisfactory pain management and possibilities for improvements in the future. Data collection included Numeric Rating Scale (NRS) scores, which characterised the intensity of pain. Maximum pain on the day of surgery, mean pain on the day of surgery (D0), and mean pain on first (D1) and second (D2) postoperative days were documented. The pain of an intensity from 0 to 3 was defined as mild pain, 4 to 6 as moderate pain, and 6 to 10 as severe pain. Maximum severe pain intensity on the day of surgery was experienced by 20.5% of patients, moderate by 45.8%, and mild by 33.6%. The reported mean pain intensity according to type of surgery was as follows: hip replacement- 2.79 ± 1.6 (D0), 2.09 ± 1.4 (D1), and 1.35 ± 1.2 (D2); knee replacement - 3.39 ± 1.7 (D0), 2.98 ± (D1), 1.82 ± 1.36, and (D2); upper extremity surgery - 3.59 ± 1.9 (D0), 3.4 ± 1.7 (D1), and 2.1 ± 1.5 (D2); lower extremity surgery - 4.1 ± 2.1 (D0), 3.49 ± 1.42 (D1), and 2.58 ± 1.4 (D2); spine surgery - 3.31 ± 1.58 (D0), 2.88 ± 1.96 (D1), and 1.83 ± 1.74 (D2). Patients in the lower extremity group experienced unacceptable mean pain. The maximum pain intensity on day of surgery was experienced by patients after single-shot plexus brachialis block anaesthesia (5.24 ± 2.4). Well-designed multimodal analgesia with special attention to single shot techniques may improve pain management and functional outcomes after orthopaedic surgery.


2006 ◽  
Vol 64 (4) ◽  
pp. 1023-1026 ◽  
Author(s):  
Mônica Jaques Spinosa ◽  
Paulo Breno Noronha Liberalesso ◽  
Simone Carreiro Vieira ◽  
Alaídes Susana Fojo Olmos ◽  
Alfredo Löhr Júnior

INTRODUCTION: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder caused by mutation in the aristaless-related homeobox (ARX) gene (Xp22.13). Patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly and male genotype with ambiguous genitalia. CASE REPORT: Second child born to healthy nonconsanguineous parents, presented with seizures within the first hour of life that remained refractory to phenobarbital, phenytoin and midazolam. Examination identified microcephaly, axial hypotonia, pyramidal signs and ambiguous genitalia. EEG showed disorganized background activity and seizures starting at the right midtemporal, central and occipital regions. MRI showed diffuse pachygyria, moderate thickening of the cortex, enlarged ventricles, agenesis of the corpus callosum and septum pellucidum. Karyotype showed a 46,XY genotype. Additional findings were hypercalciuria, vesicoureteral reflux, patent ductus arteriosus and chronic diarrhea.


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