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A Rare Case of von Willebrand Disease Presenting as Hemolacria and Literature Review

Nandakumal G, Ismail F, Mohamad NF, Lott PW, Chew KS, Ab Rahman S, et al.

J Pediatr Hematol Oncol, 2021 04 01;43(3):101-103.
PMID: 33560075 DOI: 10.1097/MPH.0000000000002077

Hemolacria is a rare condition that causes a person to produce tears that are partially composed of blood. It can be a presenting feature of certain ocular and systemic conditions. Here, the authors describe an interesting case of a 12-year-old boy with an underlying beta-thalassemia trait, who presented with a 2-day history of bilateral blood-stained tears, and an episode of epistaxis. Ocular examination was normal, and syringing showed no nasolacrimal duct blockage. Systemic examination was unremarkable. Laboratory investigations confirmed type 2 von Willebrand disease. Management of hemolacria remains a clinical challenge given the rare occurrence of the disease. In this case report, the authors discuss the differential diagnosis and management approach to hemolacria.

Matched MeSH terms: Rare Diseases/diagnosis
Fulltext Rare disease in Malaysia: Challenges and solutions

Shafie AA, Supian A, Ahmad Hassali MA, Ngu LH, Thong MK, Ayob H, et al.

PLoS One, 2020;15(4):e0230850.
PMID: 32240232 DOI: 10.1371/journal.pone.0230850

OBJECTIVE: Rare diseases are often underdiagnosed, and their management is frequently complicated by a lack of access to treatment and information about the diseases. To allow for better policy planning, we sought to examine the current status of managing rare diseases in Malaysia.
METHODS: This study was conducted in two phases. In the first phase, we triangulated information from reviews of journal publications, documents from the Malaysian government and in-depth interviews among selected key healthcare stakeholders in Malaysia. The second phase was designed as a cross-sectional survey to estimate the number of cases and treatment coverage for rare diseases in Malaysia.
RESULTS: Malaysia has no official definition of rare disease yet but currently in the process of reviewing them for Malaysia. There are 13 rare disease specialists and a dozen medical doctors in genetic clinics around Malaysia, mainly in public health facilities. From the survey, 1,249 patients were diagnosed with rare diseases in public hospitals. Only 60% received their medications or supplements, and the rest continued with symptomatic treatment.
CONCLUSION: Generally, Malaysia has made significant progress in the management of rare diseases, but there are still opportunities for development in critical areas. Ultimately, if all healthcare providers, government, society, and politicians work together to manage rare diseases, we will see an improvement in patient outcomes.

Matched MeSH terms: Rare Diseases/diagnosis*
Fulltext Rare case of primary leiomyosarcoma of sigmoid mesocolon

Ilias AS, Yaacob H, Wan Zain WZ, Zakaria AD

BMJ Case Rep, 2017 Sep 15;2017.
PMID: 28918402 DOI: 10.1136/bcr-2017-219826

We experienced a rare case of primary leiomyosarcoma of sigmoid mesentery. A 45-year-old woman was presented to us with left iliac fossa mass and discomfort for 4-month duration. CT scan of abdomen and pelvis revealed a huge mass 14 cm×14 cm×16 cm occupying left iliac fossa mimicked having a large left ovarian carcinoma. She was subsequently planned for elective total abdominal hysterectomy and bilateral salpingo-oophorectomy by gynaecology team. During laparotomy, a huge mass was revealed arising from sigmoid mesentery invaded to the left lower ureter. Curative resection was done and pathological findings show the tumour being leiomyosarcoma with immunohistochemistry tests on caldesmon, desmin, smooth muscle actin and CD34 reagent all positive. Clinicopathological and literature review of this rare primary leiomyosarcoma of mesocolon was discussed in our case presentation.

Matched MeSH terms: Rare Diseases/diagnosis*

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