scholarly journals Cardiac amyloidosis in paediatric population, a sword of damocles: A case series

2021 ◽  
Vol 73 ◽  
pp. S84
Author(s):  
Sumit Vipin Kumar ◽  
Girish Ramkrishna Sabnis ◽  
Hetan Chandrakant Shah ◽  
Charan Pandurang Lanjewar
Keyword(s):  
Cardiac Amyloidosis ◽  
Case Series ◽  
Paediatric Population

scholarly journals PATH-18. A MULTI-CENTER CASE SERIES OF ADULT K27M MUTATED DIFFUSE MIDLINE GLIOMAS REVEALING A POPULATION UNIQUE FROM PAEDIATRIC CASES

2020 ◽  
Vol 22 (Supplement_2) ◽  
pp. ii167-ii168
Author(s):  
Alexander Yuile ◽  
Madhawa De Silva ◽  
Marina Kastelan ◽  
Veronica Cheung ◽  
Joanne Sy ◽  
...  
Keyword(s):  
Older Patients ◽  
Selection Criteria ◽  
Case Series ◽  
Progression Free Survival ◽  
Paediatric Population ◽  
Asia Pacific ◽  
Royal North Shore Hospital ◽  
Free Survival ◽  
Delay In Diagnosis ◽  
Presenting Symptoms

Abstract BACKGROUND Histone mutations in the K27M gene were first described in 2014, and incorporated into the WHO CNS tumour classification system in 2016. They are typically associated with diffuse midline gliomas (DMG). Presenting symptoms vary greatly, with some experiencing significant delay in diagnosis. Median survival is only 9-12 months for these patients. Biopsy samples are small, and in some due to location, not performed. Although data is predominately based on the paediatric population, DMGs are seen in both adolescence and adults. In this multi-site retrospective study, we describe 11 adult patients with K27M DMG gliomas across two tertiary Neuro-Oncology services in Sydney, Australia. To the authors’ knowledge we present the largest known collection of adult K27M cases in the Asia-Pacific region with correlation of treatment, clinicopathologic and radiologic features with outcomes. METHODS The glioma databases of Royal North Shore Hospital (RNSH) and Royal Prince Alfred Hospital (RPAH) between January 2009 and March 2020 were interrogated to identify patients. Selection criteria included patients aged ≥ 18 years who presented with a DMG, had undergone biopsy, and had confirmed K27M via next generation sequencing. Clinicopathologic, radiologic and treatment outcomes were extracted for correlation. RESULTS Eleven patients fitting the selection criteria were identified and reported. The median age at diagnosis was 30 years and 4 were female. Five presented with hydrocephalus, the most common presenting symptoms were headaches and nausea and/or vomiting (n= 4 and n= 2 respectively). The median progression-free survival was 13 months (4-31 months) and the median overall survival was 23 months (4-59 months). CONCLUSION This case series reports the outcomes of older patients with K27M. The clinical course demonstrated suggests a divergence from paediatric biology. Ongoing studies are required to further characterise the histopathological and clinical differences of these tumours in older patients.

scholarly journals Pertussis Vaccination Failure in the New Zealand Pediatric Population: Study Protocol

Vaccines ◽  
2019 ◽  
Vol 7 (3) ◽  
pp. 65
Author(s):  
Chisholm ◽  
Howe ◽  
Best ◽  
Petousis-Harris
Keyword(s):  
Risk Factors ◽  
Cohort Study ◽  
Pediatric Population ◽  
Case Series ◽  
Risk Groups ◽  
Paediatric Population ◽  
Investigate Risk Factor ◽  
Case Series Study ◽  
Study Results ◽  
Series Study

Pertussis vaccines have been effective at reducing pertussis-associated morbidity and mortality. However, they have a complex array of limitations, particularly associated with the duration of protection against clinical disease and imperfect immunity (carriage and transmission). Little is known about risk factors for pertussis vaccination failure. Understanding pertussis vaccination failure risk is most important in the paediatric population. This study aims to investigate risk factors for pertussis vaccination failure in (1) infants between birth and six weeks of age born to mothers who received pertussis booster vaccinations during pregnancy and (2) infants after the completion of the primary series (approximately five months old) to four years old. This will be achieved in a two-step process for each study group. Pertussis vaccination failure cases will first be described using a case series study design, relevant case characteristics will be sourced from six national administrative datasets. The case series study results will help select candidate risk factors (hypothesis generating step) to be tested in the retrospective cohort study (hypothesis testing step. Pattern analysis will be used to investigate risk factor patterns in the cohort study. The identification of higher risk groups enables targeting strategies, such as additional doses, to better prevent pertussis disease.

scholarly journals Cases of management of paediatric tubo-ovarian torsion

2019 ◽  
Vol 8 (7) ◽  
pp. 2888 ◽  
Author(s):  
Ruchi Bhandari ◽  
Manju Khemani ◽  
Asif Mustafa
Keyword(s):  
Fallopian Tube ◽  
Ovarian Function ◽  
Case Series ◽  
Conservative Surgery ◽  
Paediatric Population ◽  
Ovarian Torsion ◽  
Vascular Compromise ◽  
Laparoscopic Cystectomy ◽  
Paediatric Age ◽  
Loss Of Appetite

Ovarian torsion is the fifth most common cause of gynaecologic surgical emergency. It warrants early diagnosis as timely surgical management will avoid the further adnexal injury. In paediatric population, this is especially dangerous as the condition can go undiagnosed because of its rarity and nonspecific presentation. This leads to delay in surgical exploration and loss of ovarian function. In these cases, the ovary and often the ipsilateral fallopian tube twist with the vascular pedicle, resulting in vascular compromise. Unrelieved torsion leads to haemorrhagic infarction. We encountered 3 cases of ovarian torsion in paediatric age group during a period of 12 months. All cases presented with acute pain abdomen for 3-7 days period with loss of appetite and unable to pass motion with varied disappearance of pain. On ultrasound all the cases were diagnosed with ovarian cyst with torsion and underwent laparoscopic cystectomy. This case series is written just to show the results of de-torsion and conserving the fallopian tube and ovary after vascular damage. This type of conservative management may give chance to ovary to return to viability. This was seen in all 3 cases dealt by us on repeat scan on follow up. Even on de-torsion if ovary does not regain its colour immediately it should be conserved, and cystectomy should be performed rather than oophorectomy. Conservative surgery, in the form of ovarian de-torsion can be tried in cases of ischemia but if ovarian necrosis has occurred, then salpingo-oophorectomy is performed as the last resort.

scholarly journals Case series of paediatric adnexal torsion: rare yet urgent entity

2016 ◽  
Vol 6 (1) ◽  
pp. 315 ◽  
Author(s):  
Vineet Mishra ◽  
Shaheen Hokabaj ◽  
Priyankur Roy ◽  
Rohina Aggarwal ◽  
Bhumika Vyas ◽  
...  
Keyword(s):  
Ovarian Function ◽  
Tertiary Care Hospital ◽  
Tertiary Care ◽  
Case Series ◽  
Conservative Surgery ◽  
Paediatric Population ◽  
Ovarian Torsion ◽  
Care Hospital ◽  
Paediatric Age ◽  
High Degree

Ovarian torsion is a true emergency which warrants early diagnosis and timely surgical management to avoid the catastrophic consequences of further adnexal injury. In paediatric population, this is especially dangerous as the condition can go undiagnosed because of its rarity and nonspecific presentation of disease. This leads to delay in surgical exploration and loss of ovarian function. We encountered 6 cases of ovarian torsion in paediatric age group during a period of 2 years, at a tertiary care hospital in Ahmedabad. After enquiry of the symptoms and a series of investigations, a provisional diagnosis of torsion ovary was made and they were taken up for surgery. Intra-operatively all the patients were found to have non-salvageable ovary and fallopian tube on the affected side, and subsequently they underwent salpingo-oophorectomy. Diagnosis of ovarian torsion requires clinician awareness and a high degree of suspicion. Conservative surgery, in the form of ovarian detorsion can be tried in cases of ischemia but if ovarian necrosis has occurred, then salpingo-oophorectomy is performed as the last resort.

scholarly journals 2799mTc-DPD scintigraphy in cardiac amyloidosis: clinical reliability based on a case series evaluation

2019 ◽  
Vol 20 (Supplement_3) ◽  
Author(s):  
M R Victor ◽  
A C Gomes ◽  
J G Santos ◽  
I Cruz ◽  
H Pereira ◽  
...  
Keyword(s):  
Cardiac Amyloidosis ◽  
Case Series ◽  
Series Evaluation

scholarly journals Unusual presentations of ‘‘left ventricular non compaction’’- A rare form of cardiomyopathy

2021 ◽  
Vol 9 (2) ◽  
pp. 119-124
Author(s):  
Maheen S ◽  
Srikala MJ
Keyword(s):  
Diagnostic Imaging ◽  
Ischemic Cardiomyopathy ◽  
Clinical Presentation ◽  
Case Series ◽  
Paediatric Population ◽  
Left Ventricular ◽  
Rare Form ◽  
True Prevalence ◽  
Imaging Pitfalls

Left ventricular non-compaction is an overall rare form of non-ischemic cardiomyopathy. The true prevalence of left ventricular non compaction (LVNC) is unclear, but it has been reported in 0.014–0.05% of adults and even less in paediatric population [1]. We present the case series of the patients who presented with varied clinical presentation and diagnosed to have left ventricular non-compaction on imaging. We have reviewed the literature regarding diagnostic imaging criteria and imaging pitfalls of this condition.

scholarly journals Ulnar Nerve Injuries Post Closed Forearm Fractures in Paediatric Population: A Review of the Literature

2019 ◽  
Vol 13 ◽  
pp. 117955651984187
Author(s):  
Ioannis M Stavrakakis ◽  
Ioannis I Daskalakis ◽  
George E Magarakis ◽  
Zacharias Christoforakis ◽  
Maria S Katsafarou
Keyword(s):  
Ulnar Nerve ◽  
Case Reports ◽  
Case Series ◽  
Paediatric Population ◽  
Forearm Fractures ◽  
Review Of The Literature ◽  
Nerve Injuries ◽  
Fractures In Children ◽  
Ulnar Nerve Injury ◽  
Relative Case

Ulnar nerve injury as a result of closed forearm fractures in children is a rare but disastrous complication, affecting significantly the function of the upper extremity. The management of these injuries is still controversial in the literature. This is a review of small case series and case reports, in which an algorithm of treatment is proposed. A brief description of a relative case, which was treated successfully in our department, is presented as well. This case motivated the authors to perform this study.

Outcomes of sutureless and sutured scleral fixated intraocular lens in paediatric population

2020 ◽  
pp. 112067212096549
Author(s):  
Manavi D Sindal ◽  
Arthi M
Keyword(s):  
Case Series ◽  
Vitreous Hemorrhage ◽  
Paediatric Population ◽  
Intraocular Lenses ◽  
Final Visit ◽  
Retrospective Case ◽  
Operative Complications ◽  
The Mean ◽  
Post Operative Complications

Purpose: To analyse the outcomes of sutureless and sutured scleral fixated intraocular lenses (SFIOL) in paediatric population. Setting: Vitreoretina department of a tertiary eye care institute in Southern India Design: Retrospective case series Methods: Data were collected from January 2010 to December 2018 for children less than 18 years of age, based on the following parameters: demographics, pre-operative characteristics, duration between aphakia and surgery, previous amblyopia treatment, the uncorrected (UCVA) and the best corrected visual acuity (BCVA) at baseline and, 1,6 and 12 months or final visit. Early and late post-operative complications along with details of any resurgery was recorded. Results: The study included 45 eyes of 43 patients. The mean age when children became aphakic was 8.8±3.6 years and the mean age at SFIOL implantation 10.1 ± 3.9 years. Sutureless SFIOL was performed for 36 (80%) eyes. The improvement in UCVA was statistically significant at 1-month follow up. Transient hypotony (n = 3), vitreous hemorrhage ( n = 7) and raised IOP ( n = 4) were the most observed early post-operative complications, while haptic exposure or disinsertion ( n = 4, 9%) was a delayed postoperative complication. The mean spherical equivalent at the last follow up was 1.96 ± 0.83D and mean postoperative cylinder 2.32 ± 1.3D. The children were followed up for a mean duration of 20 ± 21.7 months. History of previous vitrectomy was found to be associated with two line reduction in UCVA (95% CI = 0.03–0.5 logMAR, p = 0.008). Conclusion: SFIOLs- sutured and sutureless; both were suitable for the rehabilitation of paediatric aphakia. Sutureless scleral fixation is a safe alternative for children but prospective studies with longer follow-up are needed.

Complex regional pain syndrome following immunisation

2012 ◽  
Vol 97 (10) ◽  
pp. 913-915 ◽  
Author(s):  
Stephanie Richards ◽  
George Chalkiadis ◽  
Raman Lakshman ◽  
Jim P Buttery ◽  
Nigel W Crawford
Keyword(s):  
Complex Regional Pain Syndrome ◽  
Case Series ◽  
Pain Syndrome ◽  
Paediatric Population ◽  
Clinical Syndrome ◽  
Physical Injury ◽  
Minor Trauma ◽  
Effective Management ◽  
Hepatitis B Vaccines

Complex regional pain syndrome type 1 (CRPS-1) is a clinical syndrome that affects one or more extremities and is characterised by persistent pain disproportionate to any inciting event, and at least one sign of autonomic dysfunction in the affected limb(s). The pathogenesis of this syndrome is poorly understood, but its onset is often precipitated by a physical injury, such as minor trauma, fracture, infection or a surgical procedure. In the literature, there are reports of CRPS-1 following immunisation with rubella and hepatitis B vaccines. Here we present a case series of CRPS-1 following immunisation in adolescents, with either diphtheria-tetanus-acellular pertussis (1 case), or human papillomavirus vaccines (4 cases). Enhanced awareness of this syndrome and its potential to occur following immunisation in the paediatric population is vital to the prompt and effective management of this condition.

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