Rare disease

Mucopolysaccharide IVA is a rare recessive genetic disease resulting from a deficiency of N 6 sulfatase acetylgalactosamine (galactose 6 sulfatase) - a lysosome’s enzyme necessary to degrade keratan sulfate and chondroitin sulfate. Objectives: To describe clinical characteristics and genetic analysis of 13 children with MPS IVA in National Pediatric Hospital.

8p viengfa 28-10-2024 1 1   Download

Gout is one of arthritis diseases resulting from high levels of plasma uric acid. Screening of medicinal plants for analgesic and an-hyperuricemic effects is necessary to prevent and treat gout disease. Homalomena has been widely used in traditional medicine for the treatment of bone diseases. Homalomena pierreana is a newly discovered rare species found in Vietnam.

8p viling 11-10-2024 0 0   Download

Hirschsprung's disease is a congenital condition characterized by the absence of ganglion cells in the colon. While approximately 90% of cases are diagnosed before the age of five, the occurrence of Hirschsprung's disease in adults is rare and frequently overlooked.

7p vibecca 01-10-2024 3 2   Download

The hereditary spastic paraplegias (HSPs) are a group of disorders characterised by progressive lower limb weakness and spasticity. This case highlights the challenge of distinguishing HSP from other chronic spinal cord diseases and emphasizes the role of genetic analysis in rare cases of spastic paraplegia.

4p viling 27-09-2024 2 2   Download

The article presented a case of bacteremia caused by Chromobacterium violaceum in a 9-year-old girl. This was a rare disease in humans, so the diagnosis and treatment were delayed. The entire prossess of disease and antibiotic therapy have been described in detail. Although life was saved, the consequences for the patient can be long-lasting.

6p vifaye 20-09-2024 2 1   Download

Appendiceal Mucocele (AM) is a very rare disease, believed to be more common in middle-aged women, and includes both non-neoplastic and neoplastic lesions. If not diagnosed and treated early, it can lead to mucin leakage, spilling into the peritoneal cavity, resulting in severe consequences, particularly the complication of pseudomyxoma peritonei (PMP), which has a very poor prognosis.

9p viavatis 29-08-2024 1 1   Download

Appendiceal cancer is a very rare disease. Based on 6 cases of appendiceal cancer who were admitted to the Internal Medicine of Breast, Gastroenterology, Hepatology, Urology, Department, Oncology Hospital of Ho Chi Minh City from September 2019 to March 2021, we evaluate the available literature review about diagnosis and treatment of appendiceal cancer.

4p vinatisu 29-08-2024 2 0   Download

Anti-N-methyl-D-aspartate receptor encephalitis is a rare autoimmune disease characterized by severe neurological and psychiatric symptoms and difficult to diagnose. We report a case of Anti-N-methyl-D-aspartate receptor encephalitis diagnosed at the Pediatric Center of Hue Central Hospital.

4p vinatisu 29-08-2024 0 0   Download

Extranodal NK/T-cell lymphoma, nasal type, is a rare subtype of non-Hodgkin lymphoma, origin from natural killer (NK) cells and T cells. This is a rare, fast-growing and poor prognosis disease. Currently there have been not many studies in Vietnam on this issue. We conduct this research with two objects: to describe characteristics of patients and evaluate premininary results of treatment extranodal NK/T cell lymphoma, nasal type, stage I to II at K hospital.

5p vinatisu 29-08-2024 4 0   Download

We report a case of HSK with a renal tumour in a 65-year-old man and highlight our challenges in the management of the case. To the best of our knowledge, this is the first reported case of a squamous cell carcinoma in an HSK in province of Thua Thien Hue.

5p vinatisu 29-08-2024 7 1   Download

Meningoencephalitis is not a rare disease in children. However, eosinophilic meningitis due to Angiostrongylus cantonensis is unusual in pediatric population. We describe the case of a 12-year-old girl from central zone of Vietnam with eosinophilic meningitis.

5p vinatisu 29-08-2024 1 1   Download

Wilson’s disease (WD) is a rare inherited copper metabolism disorder with many clinical symptoms highlighted by hepatic and cerebral features. We present the case of a 17 - year - old female patient with generalized tonic - clonic seizures and cerebellar ataxia who presented to our hospital.

4p vinatisu 29-08-2024 2 1   Download

Pseudoxanthoma Elasticum (PXE) is a rare disease with autosomal recessive inheritance. Dysfunctional or absent ABCC6 results in low serum PPi, ectopiccalcification, obviously of elastic tissue, eyes, and blood vessels. We present a case of a male patient who is possiblydiagnosed Pseudoxanthoma Elasticum at Hue Central Hospital.

8p vinatisu 29-08-2024 2 1   Download

Carotid web is a focal variant of fibromuscular dysplasia, creating a septal in the carotid bulb, from which thrombosis can occur and may cause stroke. It is a rare disease and there is not enough evidence to establish optimal treatment.

6p vinatisu 29-08-2024 6 1   Download

In rare instances, cytopenias manifest as a complication of thyrotoxicosis. Here, we report a case of Graves disease (GD) thyrotoxicosis presenting as pancytopenia that resolved with antithyroid therapy.

5p caothientrangnguyen 09-05-2020 13 0   Download

Prolidase is a Mn 2+ -dependent dipeptidase that cleaves imidodipeptides containing C-terminal proline or hydroxyproline. In humans, a lack of prolidase activity causes prolidase deficiency, a rare autosomal recessive disease, characterized by a wide range of clinical outcomes, including severe skin lesions, mental retardation, and infections of the respiratory tract.

13p inspiron33 23-03-2013 44 4   Download

Rare, inherited mutations causing familial forms of Parkinson’s disease have provided insight into the molecular mechanisms that underlie the genetic and sporadic forms of this disease. Loss of protein function result-ing from autosomal-recessive mutations in PTEN-induced putative kinase 1 (PINK1), Parkin and DJ-1 has been linked to mitochondrial dysfunction, accumulation of abnormal and misfolded proteins, impaired protein clear-ance and oxidative stress.

9p vinaphone15 28-02-2013 39 3   Download

Friedreich ataxia (FRDA) is a rare hereditary neurodegenerative disease characterized by progressive ataxia and cardiomyopathy. The cause of the disease is a defect in mitochondrial frataxin, an iron chaperone involved in the maturation of Fe–S cluster proteins.

12p vinaphone15 27-02-2013 31 2   Download

Mutations in the alanine-glyoxylate aminotransferase gene (AGXT) are responsible for primary hyperoxaluria type I, a rare disease characterized by excessive hepatic oxalate production that leads to renal failure. A deeper understanding of the changes in the metabolic pathways secondary to the lack of AGXT expression is needed in order to explore substrate depletion as a therapeutic strategy to limit oxalate production in primary hyperoxal-uria type I.

9p viettel02 19-02-2013 45 2   Download

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Shared communication processes within healthcare teams for rare diseases and their influence on healthcare professionals’ innovative behavior and patient satisfaction

7p toshiba22 22-11-2011 62 4   Download