Open Access DOI:10.23937/2643-4571/1710058
Craniofacial Fibrous Dysplasia: Is Alkaline Phosphatase an Accurate Marker of Disease Activity?
Wyatt Nice, Kezia Daniel, Kathleen Brindle and Rodolfo Curiel
Article Type: Case Report | First Published: 2024/02/10
Fibrous dysplasia is a rare benign bone condition in which mature bone is replaced with fibrous tissues. Disease activity is most prominent in the first three decades of life before becoming inactive. Elevations in alkaline phosphatase have been known to be present during times of active disease, however, the clinical utility of using alkaline phosphatase to monitor disease progression remains unclear. We present the case of a 72-year-old woman with a history of craniofacial fibrous dysplasia cl...
Open Access DOI:10.23937/2643-4571/1710057
Navigating Rarity: Extranodal Presentation of Castleman Disease
Kovuri Umadevi, Lavanya Motrapu, Mohd Imran Ali and Rajarikam Nagarjunachary
Article Type: Case Report | First Published: 2024/01/27
Castleman disease (CD) is a rare lymphoproliferative disorder, originally described by Dr. Benjamin Castleman, characterized predominantly by enlarged mediastinal lymph nodes with unknown etiology. While it commonly affects mediastinal lymph nodes, occurrences in neck lymph nodes are less frequent, and presentation in the extremities is exceptionally rare. This report presents a case of a 55-year-old female with a 15-year history of a solitary swelling in her right arm. ...
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....
Open Access DOI:10.23937/2643-4571/1710043
Predictors of Quality of Life of Children and Adolescents with Osteogenesis Imperfecta
Juliana van de Sande Lee, MD, MSc, Genoir Simoni, MD, Ana Paula Vanz, MSc, Têmis Maria Félix MD, PhD, João Carlos Xikota, MD, PhD, Sílvia Modesto Nassar, TI, PhD, Maria Luiza Cimardi Rupp and Maria Marlene de Souza Pires, MD, PhD
Article Type: Original Article | First Published: April 22, 2022
Knowing the predictors of quality of life (QoL) of children with osteogenesis imperfecta (OI) can optimize their treatment. The present study evaluated a longitudinal cohort of children and adolescents in a reference center for OI. The results showed that we must target reducing fractures and pain and focus on rehabilitation. To evaluate the predictors of quality of life (QoL) of children and adolescents with osteogenesis imperfecta (OI). Descriptive cross-sectional study. Data were taken from a...
Open Access DOI:10.23937/2643-4571/1710042
Follicular Mucinosis in Childhood: A Rare, but Significant Diagnosis
Maria Luiza Cimardi Rupp, Marice El Achkar Mello, MD, Amanda Amaro Pereira, MD, Maria Marlene de Souza Pires, MD, PhD
Article Type: Case Report | First Published: April 21, 2022
Follicular mucinosis (FM) is a rare cutaneous disease with unclear etiology; it was firstly described by Pinkus, et al. in 1957, who named it mucinous alopecia, referring to a characteristic process of the FM, which leads to alopecia. As this process was not seen on all developments of the disease, in 1959 Jablonska, et al. proposed to name it Follicular mucinosis. Follicular mucinosis is uncommon in children. Using the online searching databases Scielo and PubMed, during the past 10 years, only...
Open Access DOI:10.23937/2643-4571/1710041
The Rare Disease Advisory Council Expands its Reach into West Virginia Appalachia: A Call to Action
Nadia Falah, MD
Article Type: Letter to the Editor | First Published: April 21, 2022
Patients with rare diseases in rural Appalachia face an additional hurdle in getting care. West Virginia is the only state wholly within the Appalachian region, which is noted for having some of the nation's worst health disparities. The West Virginia Advisory Council on Rare Diseases was established in January 2020 as part of the Rare Disease Advisory Council (RDAC) Acts, with the goal of developing strategies and recommendations to reduce health inequalities among West Virginians with rare dis...
Open Access DOI:10.23937/2643-4571/1710040
Yellow Nail Syndrome: When Management Seems More Intriguing Than the Diagnosis
Konstantinos Porpodis, Ioanna Filippou, Ioanna Tsiouprou and Theodore Kontakiotis
Article Type: Case Series | First Published: April 08, 2022
Yellow nail syndrome is a rare condition of unknown etiology, which is defined by the triad of yellow, slowly growing thickened nails, lymphedema, and respiratory manifestations. In order to strengthen the literature on this topic, we report the case of a 64-year-old man with yellow nail syndrome and recurrent pleural effusion. The patient was referred to the Emergency Department because of dry cough and gradually worsening dyspnea over the previous two months. A diagnosis of yellow nail syndrom...
Open Access DOI:10.23937/2643-4571/1710039
Peripheral T-Cell Lymphomas in Algeria: Results from a Multicenter Registry Study
Nadia Boudjera Belarbi, Mohamed Amine Bekadja, Mohanad Tayeb Abad, David Webb and Fatiha Grifi
Article Type: Case Series | First Published: March 24, 2022
Peripheral T-cell lymphomas (PTCLs) are a rare and heterogeneous group of aggressive malignancies derived from mature (postthymic) T lymphocytes. Currently, there are no published data describing the clinical characteristics and outcomes of Algerian patients with PTCL. To describe the clinical characteristics and treatment outcomes of patients included in an Algerian PTCL registry. Multicenter, non-interventional, cohort registry study of all patients with a diagnosis of PTCL attending four spec...
