International Journal of

Rare Diseases and DisordersISSN: 2643-4571

Archive

 Open Access DOI:10.23937/2643-4571/1710049

Some Rare Neurosurgical Pathologies in a Sub-Saharan Tertiary Hospital

Ohaegbulam SC, FRCSEd, FRCS, FWACS, FMCS, FICS, NNOM, Ndubuisi C and Okwunodulu Okwuoma

Article Type: Research Article | First Published: September 16, 2022

In sub-Saharan Africa, several neurosurgical diseases are rare in neurosurgical practice, in contrast to other climes. Poor diagnostic and health facilities are always blamed. More than six decades after the birth of neurosurgery in the region, those deficiencies and workforce have markedly improved in neurosciences. The aim of this study was to identify the uncommon cranial neurosurgical lesions and their frequency in the study centre....

 Open Access DOI:10.23937/2643-4571/1710048

Development of an Innovative SQL-Based Approach to Identify Potential Patients with Neurotransmitter Disorders

Emily Fox, Vishal Mehta, Rajesh Madhu, Evangeline Wassmer, Ruchi Arora, Tony Cox, Dave Heaton, Julia Granerod and Mark Rance

Article Type: Research Article | First Published: September 16, 2022

The neurotransmitter disorders (NTDs) signs and symptoms range from early-onset severe neurological manifestations, often accompanied with developmental delay, to later-onset moderate movement disorders [1]. Timely diagnosis remains challenging. To develop the SQL algorithm we analysed pseudonymised patient records from the Hospital Episode Statistics (HES) database, which covers all National Health Service inpatient admissions in England, between April 2010 and May 2020....

 Open Access DOI:10.23937/2643-4571/1710047

Att. to Kabuki Syndrome (ORPHA: 2322)

Hermann Josef Mascher

Article Type: Letter to the Editor | First Published: July 24, 2022

Especially the metabolism around lysine seemed promising. I got from the parents of a Kabuki syndrome child a urine sample. The researcher who put me on this track was not able to deliver more urine samples within an appropriate time frame so our cooperation ended....

 Open Access DOI:10.23937/2643-4571/1710046

Kikuchi-Fujimoto Disease, A Case Report from Australia

Cecilia Gu and Sherman Gu

Article Type: Case Report | First Published: July 04, 2022

Kikuchi-Fujimoto disease (KFD), also known as Kikuchi’s disease or histiocytic necrotising lymphadenitis, is a rare and benign medical condition of unknown aetiology. It is often misdiagnosed as lymphoma or systemic lupus erythematosus (SLE), leading to inappropriate investigations and delayed treatment. It is thus important for clinicians to be cognizant of this condition when assessing patients with cervical lymphadenopathy....

Volume 5
Issue 2