scholarly journals Heterochromia irides and mistaken identity of retinoblastoma

2019 ◽  
Vol 12 (10) ◽  
pp. e231091
Author(s):  
Moh'd Saleh Abu-Ain ◽  
Raed Shatnawi ◽  
Yacoub A Yousef ◽  
Patrick Watts

Retinoblastoma is the most common intraocular malignancy of infancy which frequently manifests with a white pupillary reflex. We report a case of delayed presentation of a child with retinoblastoma in his left eye because parents thought the change in iris colour in this eye was due to the innocent heterochromia irides that was previously diagnosed in his elder sibling. This late presentation necessitated enucleation of the affected eye followed by chemotherapy.

2018 ◽  
Vol 09 (04) ◽  
pp. 545-550 ◽  
Author(s):  
Toluyemi Adefolarin Malomo ◽  
Toyin Ayofe Oyemolade ◽  
Amos Olufemi Adeleye

ABSTRACT Background: A major goal in neurotrauma management is the prevention of secondary neuronal injuries. This goal is time bound as neurological deficits once established are usually irreversible. Late presentation is the norm in most neurotrauma patients in developing countries. Aims: The aim of the study was to review the timing of presentation of neurotrauma patients and the possible causes of their late presentation for neurosurgical care in our practice. Methods: A cross-sectional study of a 4-month prospective database of neurotrauma patients presenting to the University College Hospital, Ibadan, was done. The participants’ biodata, injury characteristics, initial-care details before referral, and information on timing and causes of delay were analyzed. Results: The study subjects included 111 patients, 80.2% (89/111) were males, and 52.8% aged 21–40 years. Head injury (HI), spinal cord injury (SCI), and combined HI and SCI occurred, respectively, in 80.2%, 14.4%, and 5.4%. Road accidents followed by falls were seen in 73.9% and 14.4% (16), respectively. Just 46.8% (52/111) cases presented within 12 h of injury and only 37 (33.3%) within 4 h. Majority, 83.8% (93/111) were referrals from primary care. These referrals were delayed in 81.7% (76/93) of these. The referring health facilities were located intracity with our center in 54%. Other causes of delayed presentation of these study participants included long-distance travel to our center, lack of funds, or a combination of the above factors. Eighty-nine patients (80.2%) were brought in by family members and the remaining minority by passers-by and road safety personnel. Conclusions: Delayed referral from primary care features prominently in timing of presentation of neurotrauma patients in Nigeria. There is a need for collaboration as well as continuing medical education between the neurotrauma specialists and primary care physicians.


2013 ◽  
Vol 18 (1) ◽  
pp. 17-23 ◽  
Author(s):  
Michael Kozak ◽  
Anne Zinski ◽  
Connie Leeper ◽  
James H Willig ◽  
Michael J Mugavero

2019 ◽  
Vol 19 (1) ◽  
pp. 71-75
Author(s):  
Abdulhadi Almuammar

AbstractIntroduction:Delays in the diagnosis of cancer were found to be a worldwide matter, and the early cancer detection has been targeted as a way to improve survival. Quantitative studies from Saudi Arabia reported a high number of cancer cases presenting at cancer centres for the first time with more advanced stages of the disease progression compared to Western countries without exploring the reasons for this phenomenon. Worldwide research identified several factors that contribute to delay in the diagnosis and treatment of cancer which were attributed to both patient and healthcare system. However, it was argued that variation in the operation of health systems and the socio-cultural context across countries makes it difficult to generalise findings beyond individuals’ countries. This necessitates country specific research to investigate why patients in Saudi Arabia present to cancer centres with late/advanced stages of their diseases.Research aim and objectives:The aim of this study is to identify and explore the factors that contribute to late-stage presentation of common cancers in Saudi Arabia. The main objective of this study is to understand the help seeking journey taken by patients with cancer from the time they discovered or felt their symptoms until the time they have their treatment initiated.Methods:Qualitative interviewing was used to collect data from 20 patients and 15 health professionals. The interviews were transcribed and then were subjected to the thematic analysis using a framework approach developed by Ritchie and Spencer (1994).Results:While some findings support what previous studies found as contributing factors responsible for delayed presentation of common cancers, this study identified several factors, which are believed to be country-specific. The ‘role of General Practitioner (GP)’, ‘challenges facing GPs’ and ‘ambiguity of the referral system’ were found to be factors that contribute to delay in the diagnosis and treatment of cancer in Saudi Arabia.Conclusion:This research identified several factors that need to be investigated in the future using quantitative methods. There is a need to investigate the extent of using alternative medicine and its possible association with late presentation of cancer.


2020 ◽  
Vol 2 (1) ◽  
pp. 67-78
Author(s):  
Syed Fasiha Shah ◽  
Azlinda Azman ◽  
Jamshed Baloch

The present study focuses on societal factors influencing the breast cancer incidence and deaths due breast cancer. The delayed detection and late presentation of tumour is influenced by the knowledge and understanding of disease by women herself, family and people in her surroundings. The sociocultural behaviour is key component of delayed detection of breast cancer and delayed presentation which leads to higher rates of morbidity and mortality. Though Breast cancer is the most common malignancy among females all around the world including Malaysia. Breast cancer accounts for 2.4% of deaths among women among Malaysia every year. The study was a quantitative questionnaire-based survey. The study includes female postgraduate students 25-30 years of age studying at University Sains Malaysia. The questionnaire was divided into five sections and total of 19 questions. A total of 50 women, between 30-39 years of age were interviewed. This study set out to explore the health promotion concepts and factors that impede health promotion as well as the barriers were also explored which might hinder women to go through mammogram. The results obtained in the study validated and confirmed the literature. 


2013 ◽  
Vol 04 (01) ◽  
pp. 016-018
Author(s):  
Mallikarjun Patil ◽  
Keyur A Sheth ◽  
Adarsh C K.

ABSTRACTCommon bile duct (CBD) injuries from blunt abdominal trauma are rare. The diagnosis is often more difficult with incomplete injuries that result in a delayed presentation. We present a case of CBD injury due to trauma with delayed presentation. Magnetic resonance cholangiopancreatography demonstrated the nature of extrahepatic bile duct and was treated successfully with endoscopic stent placement. (J Dig Endosc 2013;4(1): 16–18)


2019 ◽  
Vol 4 (3) ◽  
pp. 247301141986402
Author(s):  
David P. Falk ◽  
Sreenivasulu Metikala ◽  
Viviana Serra Lopez ◽  
Matthew Stein ◽  
Karim Mahmoud ◽  
...  

In the United States, approximately 2000 stingray injuries occur annually. The majority of reports on stingray injuries to the foot and ankle reflect acute injuries. Delayed presentation after stingray injury to the foot and ankle has not been reported. We present a case of a 29-year-old female who sustained a stingray injury to the left plantar medial hindfoot 14 months prior to presenting to our clinic with new-onset posteromedial ankle redness and swelling along the tarsal tunnel. Magnetic resonance imaging (MRI) revealed multiple linear foreign bodies at the quadratus plantae and tarsal tunnel. The patient underwent operative exploration with removal of multiple retained stingray spines. At her most recent follow-up at 3 months, she was able to resume her usual activities. Level of Evidence: Level V, case report.


2010 ◽  
Vol 9 (2) ◽  
pp. 117-123 ◽  
Author(s):  
A. Almuammar ◽  
C. Dryden ◽  
J.A. Burr

AbstractAccording to the World Health Organization (WHO 2006), cancer is one of the leading causes of death worldwide. Deaths from cancer are projected to continue rising, with an estimated 9 million people dying from cancer in 2015 and 11.4 million dying in 2030 (WHO 2006). Delayed presentation or late diagnosis of cancer is associated with low survival. The aim of this review is to identify factors associated with delayed presentation of cancer that were reported by previous studies. Published studies which identified the most common factors attributed to the late presentation of cancer were reviewed. Publications were identified using MEDLINE (Medical Literature Analysis and Retrieval System Online), the Cochrane Library, CINAHL (Cumulative Index to Nursing and Allied Health Literature) and EMBASE (Excerpta Medica Database) databases. A Critical Appraisal Skills Programme (CASP) was used to assess the methodological quality of the studies. A total of 24 studies met the inclusion criteria. A data extraction sheet was used to systematically record relevant factors. Twenty-four studies met the inclusion criteria which identified factors associated with patients’ delay including patients’ knowledge, stress and fear, and nature of the disease. Other factors were attributed to health providers such as general practitioner (GP) experience, referral delay, and a younger age group being considered as low risk, so symptoms were missed.


2020 ◽  
Vol 33 (5) ◽  
pp. 675-679
Author(s):  
Agnieszka Brandt ◽  
Neha Agarwal ◽  
Dinesh Giri ◽  
Zoe Yung ◽  
Mohammad Didi ◽  
...  

AbstractBackgroundThe hyperinsulinism/hyperammonaemia (HI/HA) syndrome is the second most common cause of hyperinsulinaemic hypoglycaemia, caused by activating mutations in GLUD1. In this article, we report a series of three unrelated patients with HI/HA syndrome who demonstrated variable phenotypes, ranging from delayed presentation to spontaneous resolution of hypoglycaemia, thereby expanding the current knowledge and understanding of GLUD1 mutations.Case presentationThis paper is a retrospective analysis of patients with HI/HA syndrome who demonstrated a variable disease course. Patient 1 presented with hypoglycaemic seizures at the age of 7 months and was diagnosed with HI/HA syndrome. Patient 2, a 5-year-old boy, on anti-convulsants since 8 months of age, was diagnosed with HI/HA at the age of 4 years. Patient 3, an 11-year-old girl with a history of transient neonatal hypoglycaemia, was diagnosed with HI/HA at the age of 12 months following evaluation for absence seizures. Patients 1 and 2 had raised ammonia levels, whilst patient 3 had normal ammonia level. The genetic analysis in all three patients confirmed GLUD1 mutation. Good glycaemic control was observed in all following diazoxide treatment. All patients have learning difficulties. Patient 1 demonstrated spontaneous resolution of hypoglycaemia at the age of 8 years, enabling discontinuation of diazoxide.ConclusionsThe cases highlight the diagnostic challenges in HI/HA syndrome due to a highly variable presentation. Knowledge of variable phenotypes would enable early diagnosis, thereby decreasing the risk of long-term neurological damage. Spontaneous resolution of hyperinsulinism could occur, and it is important to consider a trial off diazoxide therapy especially if the patients are on a small dose of diazoxide.


2020 ◽  
Vol 7 (4) ◽  
pp. 1065
Author(s):  
Shabi Ahmad ◽  
Vikram Singh ◽  
Vinod Kumar Pandey ◽  
Shirish Kumar ◽  
Tabrej Alam ◽  
...  

Background: Pancreatic injuries are usually subtle to identify by different diagnostic imaging modalities and these injuries are often overlooked in cases with extensive multi-organ trauma. Our study was conducted to evaluate the outcome of a step-up approach in the management of pancreatic trauma patients with late presentation.Methods: The study included 15 patients who presented with grade III AAST delayed presentation of pancreatic trauma from September 2017 to 2019. In our step-up approach 2 staged procedure was done, firstly laparotomy with necrosectomy along with closure of proximal pancreatic duct with external drainage of pancreatic duct, in second stage Roux-en-Y pancreaticojejunostomy was done to drain the remnant pancreas as a definitive procedure 3 to 6 months after initial procedure.Results: In our study, blunt trauma abdomen (83.30%) (n=10) was the most common mode of injury. The main reason for delay in diagnosis of pancreatic trauma was delayed presentation of patient (83.3%) (n=10). Total of 4 patients were admitted to intensive care unit (ICU) at the time of admission. 10 patients underwent both the stages of step up approach management among which one patient had pancreatic fistula as a complication (n=1) (10%) and one patient had post-operative abscess as a complication (n=1) (10%). No mortality was noted in our study.Conclusions: The step-up approach discussed above proves to be beneficial towards management of patients with delayed presentation of pancreatic trauma in our setting.


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