Predictor Variables Associated With Dermatology Referral Completion and the Impact on Surgical Treatment: A Retrospective Cohort Study.

BACKGROUND: Delays or failure to complete a dermatologic referral may affect health care outcomes. Factors associated with these delays remain understudied. OBJECTIVE: This study investigated socioeconomic and demographic factors associated with delays or failure to complete dermatology referrals and potential impact on surgical outcomes. METHODS: A retrospective chart review was performed for 400 patients internally referred to an academic dermatology center from 19 primary-care clinics from July 2018 to June 2019. Only patients referred after an in-person primary-care visit in which the provider documented a specific concerning lesion were included. Multivariate analyses were performed to explore variables associated with delays or failure to complete dermatology referrals. RESULTS: Patients were more likely to complete their referral if they had a personal history (adjusted odds ratio [aOR] = 7.843, 95% CI 1.383-14.304) or family history (aOR = 11.307, 95% CI 2.344-20.27) of skin cancer. Patients were more likely to delay referral completion past 30 days if they were ages 18 to 34 (aOR = 6.665, 95% CI 1.285-12.044) and less likely to delay referral past 30 days if they had a previous history of skin cancer (aOR = 0.531, 95% CI 0.181-0.882). LIMITATIONS: Single institution, retrospective study, limited surgical patients. CONCLUSION: Understanding factors associated with delays in dermatology referral completion can help identify at-risk patient populations.

Redefining the Classification for Bertolotti Syndrome: Anatomical Findings in Lumbosacral Transitional Vertebrae Guide Treatment Selection.

OBJECTIVE: We present the Jenkins classification for Bertolotti syndrome or symptomatic lumbosacral transitional vertebra (LSTV) and compare this with the existing Castellvi classification for patients presenting for treatment. METHODS: We performed a retrospective cohort study of 150 new patients presenting for treatment of back, hip, groin, and/or leg pain from July 2012 through February 2022. Using magnetic resonance imaging, computed tomography, and radiography, the patients with a radiographic finding of LSTV, an appropriate clinical presentation, and identification of LSTV as the primary pain generator via diagnostic injections were diagnosed with Bertolotti syndrome. Patients for whom conservative treatment had failed and who underwent surgery to address their LSTV were included in the present study. RESULTS: The Castellvi classification excludes 2 types of anatomic variants: the prominent anatomic side and the potential transverse process and iliac crest contact. Of 150 patients with transitional anatomy, 103 (69%) were identified with Bertolotti syndrome using the Jenkins classification and received surgery (46 men [45%] and 57 women [55%]). Of the 103 patients, 90 (87%) underwent minimally invasive surgery. The patients presented with pain localized to the back (n = 101; 98%), leg (n = 79; 77%), hip (n = 51; 49%), and buttock (n = 52; 50%). Only 84 of the Jenkins classification patients (82%) met any of the Castellvi criteria. All 19 patients for whom the Castellvi classification failed had had type 1 anatomy using the Jenkins system and underwent surgery (decompression, n = 16 [84%]; fusion, n = 1 [5%]; fusion plus decompression, n = 2 [11%]). Of these 19 patients, 17 (89%) had improved pain scores. The 19 patients exclusively diagnosed via the Jenkins classification had no significant differences in improved pain compared with those diagnosed using the Castellvi classification. CONCLUSIONS: The Jenkins classification improves on the prior Castellvi classification to more comprehensively describe the functional anatomy, identify uncaptured anatomy, and better predict optimal surgical procedures to treat those with Bertolotti syndrome.

Redefining the Treatment of Lumbosacral Transitional Vertebrae for Bertolotti Syndrome: Long-Term Outcomes Utilizing the Jenkins Classification to Determine Treatment.

OBJECTIVE: Using the Jenkins classification, we propose a strategy of shaving down hypertrophic bone, unilateral fusion, or bilateral fusion procedures to achieve pain reduction and improve quality of life for patients with Bertolotti syndrome. METHODS: We reviewed 103 patients from 2012 through 2021 who had surgically treated Bertolotti syndrome. We identified 56 patients with Bertolotti syndrome and at least 6 months of follow-up. Patients with iliac contact preoperatively were presumed to be more likely to have hip pain that could respond to surgical treatment, and those patients were tracked for those outcomes as well. RESULTS: Type 1 patients (n = 13) underwent resection. Eleven (85%) had improvement, 7 (54%) had good outcome, 1 (7%) had subsequent surgery, 1 (7%) was suggested additional surgery, and 2 (14%) were lost to follow-up. In Type 2 patients (n = 36), 18 underwent decompressions and 18 underwent fusions as a first line. Of the 18 patients treated with resection an interim analysis saw 10 (55%) with failure and needing subsequent procedures. With subsequent procedure, 14 (78%) saw improvement. For fusion surgical patients, 16 (88%) saw some improvement and 13 (72%) had a good outcome. In Type 4 patients (n = 7), 6 (86%) did well with unilateral fusion, with durable benefit at 2 years. In patients who had hip pain preoperatively (n = 27), 21 (78%) had improvement of hip pain postoperatively. CONCLUSIONS: The Jenkins classification system provides a strategy for patients with Bertolotti syndrome who fail conservative therapy. Patients with Type 1 anatomy respond well to resection procedures. Patients with Type 2 and Type 4 anatomy respond well to fusion procedures. These patients respond well in regard to hip pain.

A novel two-layer, intradural and extradural patch graft approach to treating dural defects and tears: illustrative case.

BACKGROUND: Dural tears must be quickly addressed to avoid the development of positional headaches and pseudomeningoceles, among other complications. However, sizeable areas of friable or absent dura create unique challenges when attempting to achieve a watertight seal. We have developed a two-layer subdural and epidural fibrous patch technique to treat expansive or challenging dural tears as a result of our experience treating spinal fluid leaks. OBSERVATIONS: The authors present the treatment of a large necrotic (5 × 1.5 cm) dural defect refractory to initial attempts at standard primary repair with dural patch grafting and requiring a revision with a dual-layer patch to manage persistent cerebrospinal fluid leakage. LESSONS: The use of a two-layer (subdural and epidural) patch is both a safe and effective dural repair technique for creating a watertight seal in challenging large areas in which the dura may be damaged, scarred, or absent. We also propose that this technique may be able to be used for smaller challenging tears, as well as potentially for repairs of large blood vessels or other fluid-filled structures in the body.

TUBB4A mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model.

Mutations in TUBB4A result in a spectrum of leukodystrophy including Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (H-ABC), a rare hypomyelinating leukodystrophy, often associated with a recurring variant p.Asp249Asn (D249N). We have developed a novel knock-in mouse model harboring heterozygous (Tubb4aD249N/+) and the homozygous (Tubb4aD249N/D249N) mutation that recapitulate the progressive motor dysfunction with tremor, dystonia and ataxia seen in H-ABC. Tubb4aD249N/D249N mice have myelination deficits along with dramatic decrease in mature oligodendrocytes and their progenitor cells. Additionally, a significant loss occurs in the cerebellar granular neurons and striatal neurons in Tubb4aD249N/D249N mice. In vitro studies show decreased survival and dysfunction in microtubule dynamics in neurons from Tubb4aD249N/D249N mice. Thus Tubb4aD249N/D249N mice demonstrate the complex cellular physiology of H-ABC, likely due to independent effects on oligodendrocytes, striatal neurons, and cerebellar granule cells in the context of altered microtubule dynamics, with profound neurodevelopmental deficits.

Inside human and other animal cells, filaments known as microtubules help support the shape of the cell and move proteins to where they need to be. Defects in microtubules may lead to disease. For example, genetic mutations affecting a microtubule component called TUBB4A cause a rare brain disease in humans known as H-ABC. Individuals with H-ABC display many symptoms including abnormal walking, speech defects, impaired swallowing, and several cognitive defects. Abnormalities in several areas of the brain, including the cerebellum and striatum contribute to these defects. . In these structures, the neurons that carry messages around the brain and their supporting cells, known as oligodendrocytes, die, which causes these parts of the brain to gradually waste away. At this time, there are no therapies available to treat H-ABC. Furthermore, research into the disease has been hampered by the lack of a suitable "model" in mice or other laboratory animals. To address this issue, Sase, Almad et al. generated mice carrying a mutation in a gene which codes for the mouse equivalent of the human protein TUBB4A. Experiments showed that the mutant mice had similar physical symptoms to humans with H-ABC, including an abnormal walking gait, poor coordination and involuntary movements such as twitching and reduced reflexes. H-ABC mice had smaller cerebellums than normal mice, which was consistent with the wasting away of the cerebellum observed in individuals with H-ABC. The mice also lost neurons in the striatum and cerebellum, and oligodendrocytes in the brain and spinal cord. Furthermore, the mutant TUBB4A protein affected the behavior and formation of microtubules in H-ABC mice. The findings of Sase, Almad et al. provide the first mouse model that shares many features of H-ABC disease in humans. This model provides a useful tool to study the disease and develop potential new therapies.