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PubMed1976

Respiratory function in severe scoliosis before and after treatment (a review of 76 cases).

The authors carried out a study of respiratory function in seventy six patients suffering from severe scoliosis of different types; forty five idiopathic, sixteen poliemyelitic, ten congenital, and five neurofibromatosic. The age incidence was from a minimum of eleven years to a maximum of thirty three, with the average around fifteen years. The site of the deformity was predominantly dorsal (fifty cases), though there were also lumbar and dorso-lumbar types. The average angle of curvature (Cobb) before treatment was 110 degrees. Arthrodesis by the Harrington technique was carried out on all patients after correction with a Risser-type plaster in sixty nine cases, and Halo-traction in seven cases. The post operative period in plaster was about eight months. Spirometric tests were carried out before treatment, after preoperative correction, and two to three years after operation, always with the chest out of plaster. The results of these tests are expressed as percentage reductions in the maximum ventilation compared with the average normal values in the tables reported by Baldwin et al. (1948). The values obtained before commencing treatment showed that lumbar scoliosis even if very severe, never leads to severe respiratory deficits. There is no linear relationship between the severity of the curve and the respiratory deficit, though there is a general connection between them. Tests of respiratory function were carried out after corrective treatment, both before and after operation and at a two year follow up. There was an overall average improvement of 10% in the respiratory deficit, with a maximum of about 20% in a group of twenty two patients with the most severe deficit before commencing treatment. Follow-up three years after operation showed the improvement in respiratory fimction had been maintained. The authors conclude that arthrodesis by the Harrington technique does not diminish the respiratory gain achieved by pre-operative correction. On the contrary, it stabilises it and maintains it over the three year follow-up period of the present survey.

Adolescent↗

PubMed2025

History and clinical epidemiology of NF2-related schwannomatosis.

NF2-related schwanomatosis (NF2-SWN) (previously Neurofibromatosis 2) as characterised by bilateral vestibular schwannomas (VS) was first described in 1822. However, due to the erroneous conflation of individuals with bilateral eighth nerve tumours with von Recklinghausen disease (currently Neurofibromatosis 1, NF1) in 1917 the literature was confusing for much of the 20th century. Even when the conditions were separated officially in 1987 (with separate localisation of the genes), NF2-SWN remained classified as a neurofibromatosis despite the tumours pathognomonic for NF1, neurofibromas, not being a feature of NF2-schwannomatosis. It is only in 2022 that NF2-SWN was correctly delineated as a schwannomatosis. The epidemiology of NF2-SWN has only been possible to delineate after the separation of NF2-SWN from the much more frequent nerve sheath predisposing tumour condition NF1. Two research groups have published on the birth prevalence and population prevalence of NF2-SWN in the UK and Finland. The most highly ascertained assessment of NF2-SWN cases from the Manchester region of England (population 4.8 million) gave a diagnostic prevalence of 1 in 50,500 and calculated birth prevalences of 1 in 27,956 respectively. However, an updated prevalence across England in 2024 (population 55 million) gave a prevalence of at least 1 in 58,000. NF2-SWN usually presents with bilateral vestibular schwannoma, but can present with meningioma or spinal tumour or ophthalmic features before a VS diagnosis or with a unilateral VS and other tumours and rarely with a unilateral VS alone. Molecular testing is now extremely helpful in confirming the diagnosis of mosaic (present in up to 50% of de novo cases) versus germline NF2 and distinguishing from other tumour predisposition conditions especially in childhood or cases with less common presentation. This chapter summarises the clinical epidemiology of NF2-SWN differentiating the condition from the overlapping non NF2-SWN.

Humans↗

PubMed2026

NF2-related Schwannomatosis Diagnosed Before and After 30 Years of Age: Differences in Disease Presentation and Rates of Positive Genetic Testing.

OBJECTIVE: Characterize pathogenic variants, rates of mosaicism, genetic testing yield, and disease severity among patients with NF2-related schwannomatosis dichotomized by diagnosis before or after the age of 30. STUDY DESIGN: Retrospective analysis. SETTING: Tertiary referral center multidisciplinary NF2 clinic from 2021 to 2024. PATIENTS: Patients with NF2-related schwannomatosis. INTERVENTION: Next-generation sequencing. MAIN OUTCOME MEASURE: Rates of mosaicism, genetic testing rates and yield, and overall disease severity by tumor burden. RESULTS: From 2021 to 2024, there were 32 patients ≥30 years of age and 39 patients diagnosed at younger ages. Patients diagnosed ≥30 years exhibited decreased likelihood of receiving genetic testing (53% vs. 85%; P =0.009) and decreased genetic yield (defined as identification of a pathogenic genetic variant in those undergoing testing; 65% vs. 85%; P =0.20). Both age groups demonstrated similar rates of pathogenic variant type with loss-of-function being the predominant variant detected in 73% vs. 67%, for ≥30 vs. <30 years of age; P =0.90. Those ≥30 years harbored fewer number of average anatomic regions involved by tumor (2.3 vs. 3.4; P <0.001) and decreased total number of tumors (7 vs. 12; P <0.001). CONCLUSIONS: Patients diagnosed with NF2-related schwannomatosis at age ≥30 years exhibited reduced disease severity compared with those diagnosed at a younger age despite harboring similar distributions of genetic pathogenic variants inclusive of loss-of-function pathogenic variants. These observations emphasize the importance of considering patient age in addition to genetic testing for diagnostic framing tailored to patients' biology and clinical context to optimize care in the setting of NF2-related schwannomatosis.

Humans↗