Evidence map›Paper›PMID 40371684›Full record

SynthesisOrthopaedic surgery2025

Selecting the Substantially Touched Vertebra as the Lowest Instrumented Vertebra in Spinal Surgeries for B3GALT6 -Related Disorders: Clinical Experience and Literature Review.

Aoran Maheshati, Kexin Xu, Ziquan Li, Guozhuang Li, Xiangjie Yin, Qing Li, Di Liu, Shengru Wang, Zhihong Wu, Guixing Qiu and 4 more

Abstract readCase ReportsSystematic Review
In one paragraph

Synthesis in Orthopaedic surgery, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Aoran MaheshatiDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.ORCID https://orcid.org/0000-0001-8445-1869
Kexin XuDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.ORCID https://orcid.org/0009-0007-0502-4430
Ziquan LiDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.ORCID https://orcid.org/0000-0002-8412-9965
Guozhuang LiDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.ORCID https://orcid.org/0000-0002-0356-2418
Xiangjie YinDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.ORCID https://orcid.org/0000-0002-5543-4514
Qing LiDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.ORCID https://orcid.org/0009-0000-5172-5755
Di LiuDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.ORCID https://orcid.org/0000-0002-5803-7223
Shengru WangDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.ORCID https://orcid.org/0009-0004-3749-4267
Zhihong WuState Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Guixing QiuDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Baozhong ZhangDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Terry Jianguo ZhangDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Yu WangDepartment of Orthopedics, Peking University First Hospital, Beijing, China.
Nan WuDepartment of Orthopedic Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.ORCID https://orcid.org/0000-0002-9429-2889

Funding

CAMS -Innovation Fund for Medical Sciences 2021-12M-1-052CAMS -Innovation Fund for Medical Sciences 2021-I2M-1-051CAMS -Innovation Fund for Medical Sciences 2022-I2M-2-001CAMS -Innovation Fund for Medical Sciences 2023-I2M-C&T-A-003National High Level Hospital Clinical Research Funding 2022-PUMCH-C-033National High Level Hospital Clinical Research Funding 2022-PUMCH-D-002National High Level Hospital Clinical Research Funding 2022-PUMCH-D-004National Key Research and Development Program of China 2022YFC2703102National Key Research and Development Program of China 2022YFC2703901National Key Research and Development Program of China 2023YFC2507700National Natural Science Foundation of China 82172525
6 · The paper itself

Abstract

objectivesB3GALT6 -related disorders are characterized by severe early-onset spinal deformities requiring surgical corrections but are associated with increased risks of perioperative complications. This study reports the clinical experience and outcomes of selecting the substantially touched vertebra (STV) as the lowest instrumented vertebra (LIV) in spinal surgeries for patients with B3GALT6 -related disorders, a group of extremely rare skeletal and connective tissue disorders.

methodsThis retrospective study included patients who were molecularly diagnosed with B3GALT6 -related disorders and received spinal surgeries for (kypho)scoliosis between 2017 and June 2023. Their medical records were reviewed. We also conducted a systematic literature review to identify (kypho)scoliosis management in patients with B3GALT6 -related disorders.

resultsWe identified a total of four patients. Patient 1 presented with severe kyphoscoliosis and segmentation defects and received a pedicle subtraction osteotomy with short fusion and dual growing rods from T3 to L3. However, coronal imbalance was observed at the 18-month follow-up. Genetic testing revealed biallelic disease-causing variants in B3GALT6 . A revision surgery was successfully performed, with the level of the LIV extended to the STV (L4). The LIV was similarly extended to the STV in the index surgery for subsequent Patients 2 and 3 who received preoperative genetic testing results, and no complication has been observed. Patient 4 underwent preoperative Halo-pelvic traction to minimize complications, followed by posterior spinal fusion. The curves were successfully reduced without complications. A systematic literature review identified 86 articles reporting (kypho) scoliosis management in 12 of the 63 patients with B3GALT6 -related disorders. Limited surgical experience has been reported, with an increased rate of complications, including death.

conclusionsSelecting the STV as the LIV is recommended in spinal surgeries for patients with B3GALT6 -related disorders, considering the characteristic joint hypermobility associated with the condition. Additionally, preoperative Halo-pelvic traction may also be safe and effective. Furthermore, preoperative molecular diagnosis is essential for enabling precision medicine and minimizing complications.

Indexed as

GalactosyltransferasesKyphosisN-AcetylgalactosaminyltransferasesScoliosisSpinal FusionHumansOsteotomyRetrospective StudiesGalactosyltransferasesN-AcetylgalactosaminyltransferasesEhlers‐Danlos syndromegenetic testingjoint instabilityoperativescoliosissurgical procedures

Identifiers

PMID40371684
PMCPMC12214426

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.