Neurofibromatosis type 1 system-based manifestations and treatments: a review

Saleh, Mustafa; Dib, AlFadel; Beaini, Sarah; Saad, Charbel; Faraj, Sary; Joueid, Youssef El; Kotob, Yasmine; Saoudi, Lara; Emmanuel, Nancy

doi:10.1007/s10072-023-06680-5

Cited by 10 publications

(5 citation statements)

References 46 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…[ 31 ] Through the use of genomics, the classification of the disease pathology has been improved, resulting in pathology-specific management strategies and more accurate prognostic evaluations. [ 32 , 33 ] However, the identification of genetic and other biomarkers that would allow for tailored management is still an area of ongoing research. [ 34 ] Despite this progress, screening and palliative care have received limited attention and remain under-investigated, although they are crucial for patients with advanced disease and poor prognosis.…”

Section: Discussionmentioning

confidence: 99%

Arab world’s impact on bladder cancer research and opportunities for growth: A bibliometric review study

Saleh,

Raffoul,

Akil

et al. 2024

Medicine

Self Cite

View full text Add to dashboard Cite

Background: Bladder Cancer (BC) is a widespread form of cancer that affects over 1.6 million people globally. The majority of cases are diagnosed as urothelial carcinoma, with a higher likelihood of diagnosis in men and with increasing age. The Arab world (AW) is one of the regions with the highest incidence and mortality rates of BC, and the average age of diagnosis is between 40 and 49 years in North Africa and the Middle East. This study aims to assess the activity and distribution of BC publications in the AW. Methods: A systematic search across MEDLINE and Embase databases spanning 2007 to 2021 identified 1208 English-language articles on bladder cancer with Arab affiliations. The dataset was normalized against the average population and GDP (2007–2020) for 22 Arab countries. Statistical analyses via SPSS and visualizations with VOSviewer unveiled collaboration patterns and thematic trends in Arab bladder cancer research. Results: A total of 1208 BC publications were published in the AW, representing 0.24% of all biomedical publications. Egypt topped the list with the highest number of publications. The co-authorship analysis generated by VOSviewer revealed that out of 4766 authors, 161 met the minimum threshold of 5 publications. Conclusion: The findings reveal that Egypt and Jordan are at the forefront of BC research in the region, while other Arab countries are lagging behind despite being heavily impacted by the disease. To drive progress in the field, it’s important to uncover the obstacles impeding BC research in these countries and implement effective solutions to overcome them.

show abstract

Section: Discussionmentioning

confidence: 99%

Arab world’s impact on bladder cancer research and opportunities for growth: A bibliometric review study

Saleh,

Raffoul,

Akil

et al. 2024

Medicine

Self Cite

View full text Add to dashboard Cite

show abstract

“…NF1 is a genetic disorder caused by a mutation in the NF1 gene that codes for the neurofibromin protein and is characterized by neurofibromas, Lisch nodules, cafe-au-lait spots, and skeletal abnormalities. While NF1 primarily affects the nervous system, its musculoskeletal manifestations are well-documented, including anterolateral tibial bowing, radial or ulnar pseudoarthrosis, and scoliosis [ 10 ].…”

Section: Discussionmentioning

confidence: 99%

Hallux Flexion Deformity Secondary to Fibula Harvesting in a 10-Year-Old Patient With Neurofibromatosis

Poutoglidou,

Sott,

Yousaf

et al. 2024

Cureus

View full text Add to dashboard Cite

Hallux interphalangeal joint (IPJ) flexion contracture is an uncommon deformity with various underlying causes, including trauma, neurological disorders, and connective tissue pathologies. We present a unique case of a 10-year-old female patient with neurofibromatosis type 1 (NF1) and a history of fibula transposition surgery, resulting in a hallux IPJ flexion contracture. We believe that the loss of the proximal fibular attachment of the extensor hallucis longus (EHL) following fibula harvesting resulted in EHL weakness and unopposed flexor hallucis longus (FHL) pull that eventually led to the contracture. The patient underwent various diagnostic assessments, ruling out other potential causes of the deformity. This case emphasizes the importance of considering previous surgical interventions when encountering flexion contractures of the toes.

show abstract

“…[2][3][4] As such presentations highly vary among patients, NF1 is often di cult to manage, as there is no one-size-ts-all approach to treatment. 5 However, by elucidating associations between symptoms in NF1, treatment can be better customized for patients.…”

Section: Introductionmentioning

confidence: 99%

The Role of Scoliosis on the Comorbidity and Demographics of Neurofibromatosis Type-1 Patients: A Retrospective Analysis of the National Inpatient Sample Database

Kodali

Kumar

Schwartz

2023

Preprint

View full text Add to dashboard Cite

Background Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome in the United States, affecting every 1 in 3000 individuals. NF1 occurs due to non-functional mutations in the NF1 gene, which expresses neurofibromin, a protein involved in tumor suppression. As a result, NF1 typically presents with non-cancerous neoplasm masses called neurofibromas across the body. The most common musculoskeletal abnormality seen in around two-third of NF1 patients is scoliosis, an improver curvature of the spine. However, there is a lack of research on the effects of scoliosis on demographics and morbidities of NF1 patients. Objective We performed a national analysis to investigate the complex relationship between NF1 and scoliosis on patients’ demographics and comorbidities. Method We conducted a retrospective cross-sectional analysis of the 2017 US National Inpatient Sample database using univariable Chi-square analysis and multivariable binary logistic regression analysis to determine the interplay of NF1 and scoliosis on patients’ demographics and comorbidities. Results Our query resulted in 4,635 total NF1 patients, of which 475 (10.25%) had scoliosis and 4,160 (89.75%) did not. Demographic analysis showed that NF1 patients with scoliosis were typically younger, female, and white than when compared to NF1 patients without scoliosis. Comorbidity analysis showed that NF1 patients with scoliosis were more likely to develop malignant brain neoplasms, epilepsy, hydrocephalus, pigmentation disorders, hypothyroidism, diabetes with chronic complications, and coagulopathy disorders. NF1 patients with scoliosis were less likely to develop congestive heart failure, pulmonary circulation disease, peripheral vascular disease, paralysis, chronic pulmonary disease, lymphoma, and psychosis. Conclusion NF1 patients with scoliosis were predominantly younger, female, white patients. The presence of scoliosis in NF1 patients increases the risks for certain brain neoplasms and disorders, but serves a protective effect against some pulmonary and cardiac complications.

show abstract

Neurofibromatosis type 1 system-based manifestations and treatments: a review

Cited by 10 publications

References 46 publications

Arab world’s impact on bladder cancer research and opportunities for growth: A bibliometric review study

Arab world’s impact on bladder cancer research and opportunities for growth: A bibliometric review study

Hallux Flexion Deformity Secondary to Fibula Harvesting in a 10-Year-Old Patient With Neurofibromatosis

The Role of Scoliosis on the Comorbidity and Demographics of Neurofibromatosis Type-1 Patients: A Retrospective Analysis of the National Inpatient Sample Database

Contact Info

Product

Resources

About