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Article: Risk Factors for Postoperative Ileus Following Spine Surgery: A Systematic Review With Meta-Analysis.

Chang, Yu / Wong, Chia-En / Chen, Wei-Cheng / Hsu, Hao-Hsiang / Lee, Po-Hsuan / Huang, Chi-Chen / Lee, Jung-Shun

2023 Volume 14, Issue 2, Page(s) 707–717

Abstract: Study design: Systematic review and meta-analysis.: Objectives: Postoperative ileus (POI) can negatively impact patient recovery and surgical outcomes after spine surgery. Emerging studies have focused on the risk factors for POI after spine surgery. ...

Abstract	Study design: Systematic review and meta-analysis. Objectives: Postoperative ileus (POI) can negatively impact patient recovery and surgical outcomes after spine surgery. Emerging studies have focused on the risk factors for POI after spine surgery. This study aimed to review the available literature on risk factors associated with POI following elective spine surgery. Methods: Electronic databases were searched to identify relevant studies. Meta-analysis was performed using random-effect model. Risk factors for POI were summarized using pooled odds ratio (OR) with 95% confidence intervals (CI). Results: Twelve studies were included in the present review. Meta-analysis demonstrated males exhibited a higher risk of POI than females odds ratio (OR, 1.76; 95% CI, 1.54-2.01). Patients with anemia had a higher risk of POI than those without anemia (OR, 1.48; 95% CI, 1.04-2.11). Patients with liver disease (OR, 3.3; 95% CI, 1.2-9.08) had a higher risk of POI. The presence of perioperative fluid and electrolyte imbalances was a predictor of POI (OR, 3.24; 95% CI, 2.62-4.02). Spine surgery involving more than 3 levels had a higher risk of POI compared to that with 1-2 levels (OR, 1.82; 95% CI, 1.03-3.23). Conclusions: Male sex and the presence of anemia and liver disease were significant patient factors associated with POI. Perioperative fluid and electrolyte imbalance and multilevel spine surgery significantly increased the risk of POI. In addition, through this comprehensive review, we identified several perioperative risk factors associated with the development of POI after spine surgery.
Language	English
Publishing date	2023-05-02
Publishing country	England
Document type	Journal Article
ZDB-ID	2648287-3
ISSN	2192-5690 ; 2192-5682
ISSN (online)	2192-5690
ISSN	2192-5682
DOI	10.1177/21925682231174192
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Surgical excision and radiotherapy for brain metastasis from colorectal cancer: How frailty and comorbidity indices influence outcome.

Wong, Chia-En / Chang, Yu / Huang, Chi-Chen / Hsu, Hao-Hsiang / Lai, Yu-Hsuan / Chang, Kwang-Yu / Huang, Chih-Yuan / Wang, Liang-Chao / Lee, Jung-Shun / Lee, Po-Hsuan

The Kaohsiung journal of medical sciences

2024 Volume 40, Issue 4, Page(s) 395–403

Abstract: The incidence of brain metastasis (BM) from colorectal cancer (CRC) is increasing. This study aims to identify the clinical prognosticators and evaluate the prognostic validity of common comorbidity indices in patients with BM from CRC. This ... ...

Abstract	The incidence of brain metastasis (BM) from colorectal cancer (CRC) is increasing. This study aims to identify the clinical prognosticators and evaluate the prognostic validity of common comorbidity indices in patients with BM from CRC. This retrospective single-center study analyzed 93 patients with BM from CRC who received surgical excision and/or radiotherapy. The clinical characteristics and prognostic indices including the 5-item modified frailty index (mFI-5) and prognostic nutritional index (PNI) were calculated from the collected patient data and analyzed. In this study, 66 (71.0%), 10 (10.8%), and 17 (18.3%) patients received whole-brain radiotherapy (WBRT) alone, surgery alone, and surgery plus WBRT, respectively. The median survival of all patients was 3.98 months (IQR: 1.74-7.99). The 2- and 3-year survival rates were 7.4% and 3.7%, respectively. Controlled primary tumor (p = 0.048), solitary BM (p = 0.001), surgery + radiation (p < 0.001), and greater PNI (p = 0.001) were independent predictors of favorable survival. In surgically treated patients, uncontrolled primary tumor (p = 0.006), presence of multiple BM (p < 0.001), and MFI-5 ≥ 2 (p = 0.038) were independent prognosticators. For patients who received WBRT, the presence of two (p = 0.004) or multiple (p < 0.001) BM and PNI (p < 0.001) were independent survival predictors MFI-5, multiple BM, and the status of the primary tumor were independent prognosticators for patients who underwent surgery for CRCBM. For patients who received WBRT, the PNI and the number of BM were independent survival predictors.
MeSH term(s)	Humans ; Retrospective Studies ; Frailty ; Brain Neoplasms/radiotherapy ; Brain Neoplasms/surgery ; Brain Neoplasms/pathology ; Prognosis ; Colorectal Neoplasms/radiotherapy ; Colorectal Neoplasms/surgery ; Colorectal Neoplasms/pathology ; Comorbidity
Language	English
Publishing date	2024-03-14
Publishing country	China (Republic : 1949- )
Document type	Journal Article
ZDB-ID	639302-0
ISSN	2410-8650 ; 0257-5655
ISSN (online)	2410-8650
ISSN	0257-5655
DOI	10.1002/kjm2.12815
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Article ; Online: Computer-Aided Three-Dimensional Virtual Surgical Planning in Complex Skull Base Reconstruction for Sphenoid Wing Dysplasia in Neurofibromatosis Type 1.

Hsu, Hao-Hsiang / Wong, Chia-En / Lee, Jing-Wei / Huang, Chi-Chen / Lee, Jung-Shun

The Journal of craniofacial surgery

2021 Volume 32, Issue 7, Page(s) 2539–2541

Abstract: Abstract: Unilateral sphenoid dysplasia is a rare but distinctive manifestation of neurofibromatosis type 1, causing pulsatile exophthalmos, decreased vision, and facial deformity. Surgical intervention is required to prevent visual deterioration. ... ...

Abstract	Abstract: Unilateral sphenoid dysplasia is a rare but distinctive manifestation of neurofibromatosis type 1, causing pulsatile exophthalmos, decreased vision, and facial deformity. Surgical intervention is required to prevent visual deterioration. However, the reconstruction of a complex cranial base defect while fulfilling cosmetic needs is challenging. The asymmetric anatomy impedes identification and preservation of vital structures, and the use of bone grafts is often unsustainable due to resorption. Here we demonstrate a multimodal technique combining mirror-image-based virtual surgical planning, stereolithography, and neuronavigation to achieve skull base reconstruction and restore facial symmetry in an neurofibromatosis type 1 patient with sphenoid dysplasia. Preoperative surgical planning involved mirror-image simulation based on the unaffected contralateral counterpart and a stereolithographic skull-base model fabricated to design a patient-specific titanium mesh. Surgical reconstruction via the transcranial approach under intraoperative neuronavigation was performed. Immediate resolution of pulsatile proptosis was observed postoperatively. With the help of virtual surgical planning, stereolithography, and neuronavigation, precise and sustainable reconstruction with patient-specific implants can be tailored for a complex skull base defect.
MeSH term(s)	Computer-Aided Design ; Computers ; Dental Implants ; Humans ; Neurofibromatosis 1/complications ; Neurofibromatosis 1/surgery ; Reconstructive Surgical Procedures ; Skull Base/surgery ; Sphenoid Bone/diagnostic imaging ; Sphenoid Bone/surgery
Chemical Substances	Dental Implants
Language	English
Publishing date	2021-08-17
Publishing country	United States
Document type	Journal Article
ZDB-ID	1159501-2
ISSN	1536-3732 ; 1049-2275
ISSN (online)	1536-3732
ISSN	1049-2275
DOI	10.1097/SCS.0000000000007952
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Zs.A 3761: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MO 175: Show issues

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Article: Spinal giant cell-rich osteosarcoma-diagnostic dilemma and treatment strategy: A case report.

Tseng, Chen-Sheng / Wong, Chia-En / Huang, Chi-Chen / Hsu, Hao-Hsiang / Lee, Jung-Shun / Lee, Po-Hsuan

World journal of clinical cases

2022 Volume 10, Issue 21, Page(s) 7565–7570

Abstract: Background: Giant cell-rich osteosarcoma (GCRO) is a rare histological variant of osteosarcoma. Spinal GCROs are extremely rare, with challenging diagnosis and management. Herein, we present a case of spinal GCRO at T2, which was not diagnosed in ... ...

Abstract	Background: Giant cell-rich osteosarcoma (GCRO) is a rare histological variant of osteosarcoma. Spinal GCROs are extremely rare, with challenging diagnosis and management. Herein, we present a case of spinal GCRO at T2, which was not diagnosed in initial biopsy but after T2 corpectomy. We detailed the clinical course, management strategy, and outcome after a 4-year follow-up. Case summary: A 17-year-old female patient presented with back pain followed by ascending paresthesia. Spinal computed tomography (CT) and magnetic resonance imaging (MRI) revealed a collapsed T2 vertebra with an enhancing osteolytic mass. CT-guided biopsy showed inconclusive morphology. Pathology from T2 corpectomy revealed GCRO. The patient subsequently received neoadjuvant chemotherapy followed by salvage operation of T2 costotransversectomy with grossly-total resection adjuvant chemoradiation. Upon treatment completion, she had complete GCRO remission. The 4-year follow-up spinal MRI showed no tumor recurrence. Conclusion: Spinal GCRO poses unique challenges in obtaining sufficient tissue diagnosis and complete surgical removal. However, long-term local control of spinal GCRO is possible following complete resection and adjuvant chemoradiation.
Language	English
Publishing date	2022-09-20
Publishing country	United States
Document type	Case Reports
ISSN	2307-8960
ISSN	2307-8960
DOI	10.12998/wjcc.v10.i21.7565
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Article: Safety and Efficacy of Sorafenib and Lenvatinib in Patients Who Underwent Surgery or Whole-Brain Radiotherapy for Brain Metastasis of Hepatocellular Carcinoma.

Perng, Pang-Shuo / Lai, Yu-Hsuan / Lee, Po-Hsuan / Huang, Chi-Chen / Hsu, Hao-Hsiang / Lee, Jung-Shun

Journal of clinical medicine

2022 Volume 11, Issue 6

Abstract: Surgery or whole-brain radiotherapy (WBRT) for the management of brain metastasis of hepatocellular carcinoma (HCC) is associated with improved survival. However, the efficacy of multi-tyrosine kinase inhibitors (TKIs) and possible bleeding complications ...

Abstract	Surgery or whole-brain radiotherapy (WBRT) for the management of brain metastasis of hepatocellular carcinoma (HCC) is associated with improved survival. However, the efficacy of multi-tyrosine kinase inhibitors (TKIs) and possible bleeding complications have not been studied in these patients. Therefore, this study aimed at investigating TKI safety and efficacy in these patients. We retrospectively reviewed 39 patients who underwent surgery or WBRT for brain metastasis of HCC. Intracranial tumor bleeding rates were compared between patients who did and did not receive TKIs. Survival outcomes were analyzed using the log-rank and Cox regression tests. A total of 22 and 7 patients received sorafenib and lenvatinib, respectively. The intracranial tumor bleeding rates were 61.5% and 70% in patients who did and did not receive TKIs, respectively (p > 0.99). Survival analysis revealed craniotomy (adjusted odds ratio [AOR]: 0.45, p = 0.04), a higher Karnofsky Performance Score (AOR: 0.97, p < 0.01), and TKI use (AOR: 0.26, p < 0.01) were positive prognostic factors for overall survival. TKIs were associated with better survival outcomes in patients who underwent surgery or WBRT for brain metastasis of HCC and did not increase intracranial bleeding. Therefore, TKIs are efficacious and safe for treating brain metastasis of HCC.
Language	English
Publishing date	2022-03-11
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662592-1
ISSN	2077-0383
ISSN	2077-0383
DOI	10.3390/jcm11061536
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Article ; Online: Outcomes of surgery and subsequent therapy for central nervous system oligoprogression in EGFR-mutated NSCLC patients.

Perng, Pang-Shuo / Hsu, Heng-Juei / Lee, Jung-Shun / Wang, Liang-Chao / Huang, Chih-Yuan / Tien, Chih-Hao / Lai, Yu-Hsuan / Su, Po-Lan / Hsu, Hao-Hsiang / Chen, Liang-Yi / Lee, Po-Hsuan

World journal of surgical oncology

2023 Volume 21, Issue 1, Page(s) 368

Abstract: Background: Oligoprogression is an emerging issue in patients with epidermal growth factor receptor (EGFR)-mutated non-small cell lung cancer (NSCLC). However, the surgical treatment for central nervous system (CNS) oligoprogression is not widely ... ...

Abstract	Background: Oligoprogression is an emerging issue in patients with epidermal growth factor receptor (EGFR)-mutated non-small cell lung cancer (NSCLC). However, the surgical treatment for central nervous system (CNS) oligoprogression is not widely discussed. We investigated the outcomes of craniotomy with adjuvant whole-brain radiotherapy (WBRT) and subsequent therapies for CNS oligoprogression in patients with EGFR-mutated NSCLC. Methods: NSCLC patients with CNS oligoprogression were identified from a tertiary medical center. The outcomes of surgery with adjuvant WBRT or WBRT alone were analyzed, along with other variables. Overall survival and progression-free survival were analyzed using the log-rank test as the primary and secondary endpoints. A COX regression model was used to identify the possible prognostic factors. Results: Thirty-seven patients with CNS oligoprogression who underwent surgery or WBRT were included in the study after reviewing 728 patients. Twenty-one patients underwent surgery with adjuvant WBRT, and 16 received WBRT alone. The median overall survival for surgery and WBRT alone groups was 43 (95% CI 17-69) and 22 (95% CI 15-29) months, respectively. Female sex was a positive prognostic factor for overall survival (OR 0.19, 95% CI 0.06-0.57). Patients who continued previous tyrosine kinase inhibitors (OR 3.48, 95% CI 1.06-11.4) and induced oligoprogression (OR 3.35, 95% CI 1.18-9.52) were associated with worse overall survival. Smoking history (OR 4.27, 95% CI 1.54-11.8) and induced oligoprogression (OR 5.53, 95% CI 2.1-14.7) were associated with worse progression-free survival. Conclusions: Surgery combined with adjuvant WBRT is a feasible treatment modality for CNS oligoprogression in patients with EGFR-mutated NSCLC. Changing the systemic-targeted therapy after local treatments may be associated with improved overall survival.
MeSH term(s)	Humans ; Female ; Carcinoma, Non-Small-Cell Lung/genetics ; Carcinoma, Non-Small-Cell Lung/therapy ; Lung Neoplasms/genetics ; Lung Neoplasms/therapy ; Retrospective Studies ; Protein Kinase Inhibitors/therapeutic use ; ErbB Receptors/genetics ; Central Nervous System ; Brain Neoplasms/genetics ; Brain Neoplasms/therapy
Chemical Substances	Protein Kinase Inhibitors ; ErbB Receptors (EC 2.7.10.1) ; EGFR protein, human (EC 2.7.10.1)
Language	English
Publishing date	2023-11-25
Publishing country	England
Document type	Journal Article
ZDB-ID	2118383-1
ISSN	1477-7819 ; 1477-7819
ISSN (online)	1477-7819
ISSN	1477-7819
DOI	10.1186/s12957-023-03248-7
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Article ; Online: Is there a weekend effect in spine surgery?: A systematic review and meta-analysis of postoperative outcomes.

Chang, Yu / Hsu, Heng-Juei / Hsu, Hao-Hsiang / Wong, Chia-En / Chi, Kuan-Yu / Lee, Po-Hsuan / Huang, Chi-Chen / Lee, Jung-Shun / Chen, Chien-Min

Medicine

2023 Volume 102, Issue 42, Page(s) e35640

Abstract: Background: The concept of a weekend effect is that patients admitted to hospitals on the weekend tend to have poorer outcomes compared to those admitted on a weekday. Whether there is a weekend effect among patients receiving spine surgery is not well ... ...

Abstract	Background: The concept of a weekend effect is that patients admitted to hospitals on the weekend tend to have poorer outcomes compared to those admitted on a weekday. Whether there is a weekend effect among patients receiving spine surgery is not well described in the literature. We sought to perform a systematic review with meta-analysis to explore whether a weekend effect exists among patients experiencing spinal surgery. Methods: The Cochrane Library, PubMed, Embase, and MEDLINE electronic databases were searched for relevant articles. Meta-analyses were performed using functions available in the metafor package within the R software. We obtained adjusted odds ratios (OR) from included studies and pooled OR through an inverse variance method. A random-effects model was applied for meta-analysis and effect sizes were presented with their corresponding 95% confidence intervals (CI). Results: Our search strategy identified 316 references from electronic databases and eventually 6 studies were included in the analysis. The pooled result of 5 studies reporting overall complication rate indicated significant increased risk of complications among the weekend admission group (OR, 1.35; 95% CI, 1.01 to 1.80). The pooled results of 3 studies demonstrated no difference in overall mortality rates between these 2 groups of patients (OR, 1.18; 95% CI, 0.67 to 1.97). Conclusions: In spinal surgical patients, the weekend effect significantly contributes to a higher complication rate. Knowledge of potential adverse events in patients admitted on weekends is necessary for spinal surgeons and caregivers to improve patient outcomes with spinal surgery.
MeSH term(s)	Humans ; Hospital Mortality ; Hospitalization ; Neurosurgical Procedures ; Hospitals ; Postoperative Period
Language	English
Publishing date	2023-10-20
Publishing country	United States
Document type	Meta-Analysis ; Systematic Review ; Journal Article
ZDB-ID	80184-7
ISSN	1536-5964 ; 0025-7974
ISSN (online)	1536-5964
ISSN	0025-7974
DOI	10.1097/MD.0000000000035640
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Article ; Online: Evaluation of the safety, radiographic and resident training results of thoracic pedicle screws placement using resection of the transverse process.

Wong, Chia-En / Lee, Po-Hsuan / Chen, Chien-Min / Huang, Chi-Chen / Hsu, Hao-Hsiang / Chen, Liang-Yi / Huang, Chih-Yuan / Wang, Liang-Chao / Lee, Jung-Shun

British journal of neurosurgery

2023 , Page(s) 1–7

Abstract: Objective: This study aimed at the evaluation and assessment of a simple method, the transverse process resection (TPR) technique, for freehand thoracic pedicle screw placement and the learning curve for trainee surgeons.: Methods: In the TPR ... ...

Abstract	Objective: This study aimed at the evaluation and assessment of a simple method, the transverse process resection (TPR) technique, for freehand thoracic pedicle screw placement and the learning curve for trainee surgeons. Methods: In the TPR technique, the tip of the thoracic transverse process (TP) is removed to create an entry point in the cancellous bone of the TP, and the thoracic pedicle is cannulated from the TP. We retrospectively evaluated the safety and radiographic results of the TPR technique and compared with that of conventional pedicle screws. The training performance of seven neurosurgical residents with TPR techniques were evaluated. Results: Among 46 patients, a total of 322 thoracic screws were analyzed, including 178 screws placed using the TPR technique and 144 screws using the conventional straight-forward (SF) technique. TPR screws had greater medial angulations in all levels from T2 to T12 compared to SF screws ( Conclusion: This study demonstrated the safety of the TPR technique for thoracic pedicle screw placement and its short learning curve for trainee surgeons.
Language	English
Publishing date	2023-05-11
Publishing country	England
Document type	Journal Article
ZDB-ID	639029-8
ISSN	1360-046X ; 0268-8697
ISSN (online)	1360-046X
ISSN	0268-8697
DOI	10.1080/02688697.2023.2211174
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Zs.A 2210: Show issues

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Article ; Online: Quantification of vessel separation using the carotid-jugular angle to predict the nerve origin of neck peripheral nerve sheath tumours: a pooled analysis of cases from the literature and a single-center cohort.

Wong, Chia-En / Huang, Chi-Chen / Chuang, Ming-Tsung / Lee, Po-Hsuan / Chen, Liang-Yi / Hsu, Hao-Hsiang / Huang, Chih-Yuan / Wang, Liang-Chao / Lee, Jung-Shun

International journal of surgery (London, England)

2023 Volume 109, Issue 9, Page(s) 2704–2713

Abstract: Background: Postoperative nerve palsy is a major complication following resection of neck peripheral nerve sheath tumours (PNSTs). Accurate preoperative identification of the nerve origin (NO) can improve surgical outcomes and patient counselling.: ... ...

Abstract	Background: Postoperative nerve palsy is a major complication following resection of neck peripheral nerve sheath tumours (PNSTs). Accurate preoperative identification of the nerve origin (NO) can improve surgical outcomes and patient counselling. Material and methods: This study was a retrospective cohort and quantitative analysis of the literature. The authors introduced a parameter, the carotid-jugular angle (CJA), to differentiate the NO. A literature review of neck PNST cases from 2010 to 2022 was conducted. The CJA was measured from eligible imaging data, and quantitative analysis was performed to evaluate the ability of the CJA to predict the NO. External validation was performed using a single-centre cohort from 2008 to 2021. Results: In total, 17 patients from our single-centre cohort and 88 patients from the literature were analyzed. Among them, 53, 45, and 7 patients had sympathetic, vagus, and cervical nerve PNSTs, respectively. Vagus nerve tumours had the largest CJA, followed by sympathetic tumours, whereas cervical nerve tumours had the smallest CJA ( P <0.001). Multivariate logistic regression identified a larger CJA as a predictor of vagus NO ( P <0.001), and receiver operating characteristic (ROC) analysis showed an area under the curve (AUC) of 0.907 (0.831-0.951) for the CJA to predict vagus NO ( P <0.001). External validation showed an AUC of 0.928 (0.727-0.988) ( P <0.001). Compared with the AUC of the previously proposed qualitative method (AUC=0.764, 0.673-0.839), that of the CJA was greater ( P =0.011). The cut-off value identified to predict vagus NO was greater than or equal to 100°. Receiver operating characteristic analysis showed an AUC of 0.909 (0.837-0.956) for the CJA to predict cervical NO ( P <0.001), with a cut-off value less than 38.5°. Conclusions: A CJA greater than or equal to 100° predicted a vagus NO and a CJA less than 100° predicted a non-vagus NO. Moreover, a CJA less than 38.5 was associated with an increased likelihood of cervical NO.
Language	English
Publishing date	2023-09-01
Publishing country	United States
Document type	Journal Article
ZDB-ID	2212038-5
ISSN	1743-9159 ; 1743-9191
ISSN (online)	1743-9159
ISSN	1743-9191
DOI	10.1097/JS9.0000000000000491
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Zs.A 6502: Show issues

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Article ; Online: Pathogenic variants in the SPTLC1 gene cause hyperkeratosis lenticularis perstans.

Jägle, Sabine / Hsu, Hao-Hsiang / Juratli, Hazem A / Zimmer, Andreas D / Prieschl, Amelie / Alter, Svenja / Wiedenhofer, Bernhard / Metze, Dieter / Emmert, Steffen / Fischer, Judith

The British journal of dermatology

2023 Volume 188, Issue 1, Page(s) 94–99

Abstract: Background: Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a rare skin disease presenting with asymptomatic small hyperkeratotic papules. The lesions often appear on the dorsal feet and lower legs, and typically develop ... ...

Abstract	Background: Hyperkeratosis lenticularis perstans (HLP), also known as Flegel disease, is a rare skin disease presenting with asymptomatic small hyperkeratotic papules. The lesions often appear on the dorsal feet and lower legs, and typically develop after the fourth decade of life. A genetic basis for HLP is suspected; however, so far no gene defect linked to the development of HLP has been identified. Objectives: We aimed to identify the genetic cause of HLP. Methods: For mutational analysis we studied a cohort of five patients with HLP using next-generation sequencing (NGS). We used DNA -extracted from fresh skin biopsies alongside ethylenediamine tetraacetic acid (EDTA) blood samples from two patients, and formalin-fixed -paraffin-embedded skin biopsy material from three patients. In addition, immunofluorescence staining of HLP lesions from four patients was investigated. Results: In all samples from the five patients with HLP we identified by NGS rare variants in the SPTLC1 gene. In four patients we detected small deletions/frameshift variants and in one patient a splicing variant, predicted to disturb the splicing process. In blood samples the detected variants were heterozygous with an allele frequency of 49% and 50%, respectively. In skin biopsies the allele frequency was within the range of 46-62%. Immunofluorescence staining revealed reduced SPTLC1 protein levels in skin of patients. Conclusions: Our findings suggest that pathogenic variants in the SPTLC1 gene are the underlying genetic cause of HLP. Of note, the identified variants were either frameshift- or splicing variants probably leading to nonsense-mediated mRNA decay and thus reduced SPTLC1 protein levels. We conclude that diminished SPTLC1, the key enzyme in sphingolipid biosynthesis, leads to the development of HLP, which highlights the sphingolipid pathway as a new therapeutic target.
MeSH term(s)	Humans ; Keratosis/pathology ; Skin/pathology ; Biopsy/adverse effects ; Serine C-Palmitoyltransferase
Chemical Substances	SPTLC1 protein, human (EC 2.3.1.50) ; Serine C-Palmitoyltransferase (EC 2.3.1.50)
Language	English
Publishing date	2023-01-24
Publishing country	England
Document type	Journal Article
ZDB-ID	80076-4
ISSN	1365-2133 ; 0007-0963
ISSN (online)	1365-2133
ISSN	0007-0963
DOI	10.1093/bjd/ljac019
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