Using a CT-based scale to evaluate disease extension and the resectability of locally advanced thyroid cancer.

OBJECTIVES: To establish a computed tomography (CT)-based scale to evaluate the resectability of locally advanced thyroid cancer. METHODS: This twin-centre retrospective study included 95 locally advanced thyroid cancer patients from the 1st centre as the training cohort and 31 patients from the 2nd centre as the testing cohort, who were categorised into the resectable and unresectable groups. Three radiologists scored the CT scans of each patient by evaluating the extension to the recurrent laryngeal nerve (RLN), trachea, oesophagus, artery, vein, soft tissue, and larynx. A 14-score scale (including all comprised structures) and a 12-score scale (excluding larynx) were developed. Receiver-operating characteristic (ROC) analysis was used to evaluate the performance of the scales. Stratified fivefold cross-validation and external verification were used to validate the scale. RESULTS: In the training cohort, compromised RLN (p < 0.001), trachea (p = 0.001), oesophagus (p = 0.002), artery (p < 0.001), vein (p = 0.005), and soft tissue (p < 0.001) were predictors for unresectability, while compromised larynx (p = 0.283) was not. The 12-score scale (AUC = 0.882, 95%CI: 0.812-0.952) was not inferior to the 14-score scale (AUC = 0.891, 95%CI: 0.823-0.960). In subgroup analysis, the AUCs of the 12-score scale were 0.826 for treatment-naïve patients and 0.976 for patients with prior surgery. The 12-score scale was further validated with a fivefold cross-validation analysis, with an overall accuracy of 78.9-89.4%. Finally, external validation using the testing cohort showed an AUC of 0.875. CONCLUSIONS: The researchers built a CT-based 12-score scale to evaluate the resectability of locally advanced thyroid cancer. Validation with a larger sample size is required to confirm the efficacy of the scale. CLINICAL RELEVANCE STATEMENT: This 12-score CT scale would help clinicians evaluate the resectability of locally advanced thyroid cancer. KEY POINTS: • The researchers built a 12-score CT scale (including recurrent laryngeal nerve, trachea, oesophagus, artery, vein, and soft tissue) to evaluate the resectability of locally advanced thyroid cancer. • This scale has the potential to help clinicians make treatment plans for locally advanced thyroid cancer.

Radiomics features for assessing tumor-infiltrating lymphocytes correlate with molecular traits of triple-negative breast cancer.

BACKGROUND: Tumor-infiltrating lymphocytes (TILs) have become a promising biomarker for assessing tumor immune microenvironment and predicting immunotherapy response. However, the assessment of TILs relies on invasive pathological slides. METHODS: We retrospectively extracted radiomics features from magnetic resonance imaging (MRI) to develop a radiomic cohort of triple-negative breast cancer (TNBC) (n = 139), among which 116 patients underwent transcriptomic sequencing. This radiomic cohort was randomly divided into the training cohort (n = 98) and validation cohort (n = 41) to develop radiomic signatures to predict the level of TILs through a non-invasive method. Pathologically evaluated TILs in the H&E sections were set as the gold standard. Elastic net and logistic regression were utilized to perform radiomics feature selection and model training, respectively. Transcriptomics was utilized to infer the detailed composition of the tumor microenvironment and to validate the radiomic signatures. RESULTS: We selected three radiomics features to develop a TILs-predicting radiomics model, which performed well in the validation cohort (AUC 0.790, 95% confidence interval (CI) 0.638-0.943). Further investigation with transcriptomics verified that tumors with high TILs predicted by radiomics (Rad-TILs) presented activated immune-related pathways, such as antigen processing and presentation, and immune checkpoints pathways. In addition, a hot immune microenvironment, including upregulated T cell infiltration gene signatures, cytokines, costimulators and major histocompatibility complexes (MHCs), as well as more CD8+ T cells, follicular helper T cells and memory B cells, was found in high Rad-TILs tumors. CONCLUSIONS: Our study demonstrated the feasibility of radiomics model in predicting TILs status and provided a method to make the features interpretable, which will pave the way toward precision medicine for TNBC.

A Multiomics Signature Highlights Alterations Underlying Homologous Recombination Deficiency in Triple-Negative Breast Cancer.

BACKGROUND: Homologous recombination (HR) is a key pathway in DNA double-strand damage repair. HR deficiency (HRD) occurs more commonly in triple-negative breast cancers (TNBCs) than in other breast cancer subtypes. Several clinical trials have demonstrated the value of HRD in stratifying breast cancer patients into distinct groups based on their responses to poly(ADP ribose) polymerase inhibitors and chemotherapy. METHODS: We retrospectively collected TNBC samples to establish a multiomics cohort (n = 343) and explored the biological and phenotypic mechanisms underlying the better prognosis of patients with high HRD scores. Gene set enrichment analysis was conducted to elucidate the underlying pathways in patients with low HRD scores, and a radiomics model was established to predict the HRD score via a noninvasive method. RESULTS: Multivariable Cox analysis revealed the independent prognostic value of a low HRD score (hazard ratio 2.20, 95% confidence interval 1.05-4.59; p = 0.04). Furthermore, amino acid and lipid metabolism pathways were highly enriched in tumors from patients with low HRD scores, which was also demonstrated by differential abundant metabolite analysis. A noninvasive radiomics method was developed to predict the HRD status and it performed well in the independent validation cohort (support vector machine model: area under the curve [AUC] 0.739, sensitivity 0.571, and specificity 0.824; logistic regression model: AUC 0.695, sensitivity 0.571, and specificity 0.882). CONCLUSIONS: We revealed the prognostic value of the HRD score, predicted the HRD status with noninvasive radiomics features, and preliminarily explored druggable targets for TNBC patients with low HRD scores.

Superconductivity Induced by Site-Selective Arsenic Doping in Mo5Si3.

Arsenic doping in silicides has been much less studied compared with phosphorus. In this study, superconductivity is successfully induced by As doping in Mo5Si3. The superconducting transition temperature (Tc) reaches 7.7 K, which is higher than those in previously known W5Si3-type superconductors. Mo5Si2As is a type-II BCS superconductor with upper and lower critical fields of 6.65 T and 22.4 mT, respectively. In addition, As atoms are found to selectively take the 8h sites in Mo5Si2As. The emergence of superconductivity is possibly due to the shift of Fermi level as a consequence of As doping, as revealed by the specific heat measurements and first-principles calculations. Our work provides not only another example of As doping but also a practical strategy to achieve superconductivity in silicides through Fermi level engineering.

The Kocher-Langenbeck approach combined with robot-aided percutaneous anterior column screw fixation for transverse-oriented acetabular fractures: a retrospective study.

OBJECTIVE: Transverse-oriented acetabular fractures (TOAFs), including transverse, transverse with posterior wall and T-shaped fractures, are always challenging for double-column reduction and fixation with minimally invasive method. The purpose of this study is to compare the therapeutic effects of robot-aided percutaneous anterior column screw fixation versus minimally invasive anterior plate fixation for TOAFs based on the Kocher-Langenbeck (K-L) approach. METHODS: Patients suffering TOAFs that were fixed by robot-aided percutaneous anterior column screw fixation or minimally invasive anterior plate fixation associated with posterior fixation via the K-L approach were divided into two groups: group A (screw fixation) and group B (plate fixation). Surgical time, blood loss, incision length for anterior fixation and complications were recorded. Fracture reduction quality was evaluated using criteria described by Matta. Fracture healing was assessed on the series of pelvic radiographs at each follow-up. Functional outcomes were investigated using the modified Postel Merle D'Aubigne score at the final follow-up. RESULTS: Twenty-nine patients with TOAFs, including 12 patients in group A and 17 patients in group B, were evaluated for study eligibility. The mean surgical time of anterior fracture fixation was 18.7 ± 4.6 min in group A and 33.4 ± 5.0 min in group B (P < 0.001). The amount of intraoperative blood loss was 615.6 ± 178.7 ml in group A and 719.3 ± 199.0 ml in group B (P < 0.001). Incision length for anterior fixation was 9.0 ± 1.8 mm in group A and 81.2 ± 7.3 mm in group B (P < 0.001). The complications related to the surgery of anterior column only occurred in group B (lateral femoral cutaneous nerve palsy in 1 patient and groin discomfort in 1 patient). No significant differences in reduction quality, hospital stay, fracture healing time and functional results were noted between the two groups. CONCLUSION: The K-L approach combined with robot-aided anterior column screw fixation is a safe and effective option for TOAFs. Compared with minimally invasive anterior plate fixation, robot-aided screw fixation has obvious advantages on surgical time, blood loss, and invasiveness. The K-L approach combined with minimally invasive anterior plate fixation can also be a reliable alternative for TOAFs, with the similar reduction quality and functional results.

Comparative retrospective study of triangular osteosynthesis with and without robotic assistance for unilateral unstable sacral fractures combined with lumbosacral junction injuries.

BACKGROUND: To compare the clinical efficacy of unilateral unstable sacral fractures (USFs) involving the lumbosacral region treated with and without robot-aided triangular osteosynthesis (TOS). METHODS: Patients of the unilateral USF combined with the ipsilateral lumbosacral junction injury (LSJI) treated with TOS were retrospectively analyzed and divided into two groups: the robot group (TOS with robotic assistance) and the conventional group (TOS with open procedure). Screw placement was assessed using the modified Gras criterion. Patients were followed up with routine visits for clinical and radiographic examinations. At the final follow-up, clinical outcomes were recorded and scored using the Majeed scoring system. RESULTS: Eleven patients in the robot group and seventeen patients in the conventional group were recruited into this study. Significant differences in surgical bleeding (P < 0.001) and fluoroscopy time (P = 0.002) were noted between the two groups. Operation time (P = 0.027) and fracture healing time (P = 0.041) was shorter in the robot group. There was no difference in postoperative residual displacement between the two groups (P = 0.971). According to the modified Gras criterion, the percentages of grade I for sacroiliac screws in the two groups were 90.9% (10/11) and 70.6% (12/17), and for pedicle screws were 100% (11/11) and 100% (17/17), respectively. The rate of incision-related complications was 0% (0/11) in the robot group and 11.8% (2/17) in the conventional group. Statistical differences were shown on the Majeed criterion (P = 0.039), with higher scores in the robot group. CONCLUSION: TOS with robotic assistance for the treatment of unilateral USFs combined with ipsilateral LSJIs is safe and feasible, with the advantages of less radiation exposure and fewer incision-related complications.

Development of MRI-Based Radiomics Model to Predict the Risk of Recurrence in Patients With Advanced High-Grade Serous Ovarian Carcinoma.

OBJECTIVE. The purpose of our study was to develop a radiomics model based on preoperative MRI and clinical information for predicting recurrence-free survival (RFS) in patients with advanced high-grade serous ovarian carcinoma (HGSOC). MATERIALS AND METHODS. This retrospective study enrolled 117 patients with HGSOC, including 90 patients with recurrence and 27 without recurrence; 1046 radiomics features were extracted from T2-weighted images and contrast-enhanced T1-weighted images using a manual segmentation method. L1 regularization-based least absolute shrinkage and selection operator (LASSO) regression was performed to select features, and the synthetic minority oversampling technique (SMOTE) was used to balance our dataset. A support vector machine (SVM) classifier was used to build the classification model. To validate the performance of the proposed models, we applied a leave-one-out cross-validation method to train and test the classifier. Cox proportional hazards regression, Harrell concordance index (C-index), and Kaplan-Meier plots analysis were used to evaluate the associations between radiomics signatures and RFS. RESULTS. The fusion radiomics-based model yielded a significantly higher AUC value of 0.85 in evaluating RFS than the model using contrast-enhanced T1-weighted imaging features alone or T2-weighted imaging features alone (AUC = 0.79 and 0.74 and p = .02 and .01, respectively). Kaplan-Meier survival curves showed significant differences between high and low recurrence risk in patients with HGSOC by different models. The fusion model combining radiomics features and clinical information showed higher performance than the clinical model (C-index = 0.62 and 0.60, respectively). CONCLUSION. The proposed MRI-based radiomics signatures may provide a potential way to develop a prediction model and can help identify patients with advanced HGSOC who have a high risk of recurrence.

Internal iliac artery preservation outcomes of endovascular aortic repair for common iliac aneurysm: iliac branch device versus crossover chimney technique.

OBJECTIVES: To compare the outcomes of using iliac branch devices (IBD) and the crossover chimney (COCh) technique for preserving the internal iliac artery (IIA) during endovascular aortic repair in patients with common iliac aneurysm (CIA). METHODS: From February 2010 to July 2016, we recruited 61 consecutive and elective patients. Thirty of them received the IBD, and the remaining 31 received the COCh. Their medical chart was reviewed retrospectively, and computed tomographic angiography was performed at 3, 6, and 12 months postoperatively and then yearly as a follow-up. RESULTS: The median follow-up time was 19.72 ± 5.45 months. The technical success rate reached 100% in both groups. The 12-month and 24-month primary IIA patency rates between IBD and COCh group were 90.00% versus 93.54% (p = 0.67) and 83.33% versus 93.54% (p = 0.25). The numbers of stents were 1.00 ± 0.00 and 1.93 ± 0.24 in the IBD and COCh group (p < 0.001). No significant difference was observed for the incidence of type 1a (IBD/COCh = 3.33%/6.45%, p > 0.99) and type 2 endoleak (IBD/COCh = 13.33%/12.90%, p > 0.99) between two groups. Neither type 1b or type 3 endoleak nor delayed aortic rupture appeared in our series. The postoperative complication rates did not exhibit significant differences either. Free from reintervention was also similar in both groups (IBD/COCh = 22.50 ± 4.62/23.00 ± 3.87 months, p = 0.64). CONCLUSIONS: The IBD and COCh techniques exhibited similar success rates and IIA patency rates at the 24-month follow-up. Both these techniques are feasible for the preservation of IIA in patients with CIA.

Comparison of Outcomes Following TiRobot-Assisted Sacroiliac Screw Fixation with Bone Grafting and Traditional Screw Fixation without Bone Grafting for Unstable Osteoporotic Sacral Fracture: A Single-Center Retrospective Study of 33 Patients.

BACKGROUND This retrospective study from a single center aimed to compare patient outcomes following TiRobot-assisted sacroiliac screw fixation and bone grafting with traditional screw fixation without bone grafting in 33 patients with unstable osteoporotic sacral fracture (UOSF). MATERIAL AND METHODS Patients with UOSF were included and divided into 2 groups: a TiRobot-assisted surgical group with 18 patients (robot-aided sacroiliac screw fixation and bone grafting) and a standard surgical group with 15 patients (free-hand screw fixation without bone grafting). T values of bone mineral density (BMD) £-2.5 standard deviation (SD) were diagnosed as osteoporosis. Screw positioning and fracture healing time were evaluated. Functional outcomes were investigated at the final follow-up. RESULTS There were no statistically significant differences in screw positioning; however, there were satisfactory positioning rates in 94.4% (17/18) of patients in the TiRobot-assisted surgical group and 73.3% (11/15) in the standard surgical group. The advantages with TiRobot on surgical time of screw placement, fluoroscopy frequency, and total drilling times were noted (P=0.000). The nonunion rates were 5.6% (1/18) in the TiRobot-assisted surgical group and 33.3% (5/15) in the standard group (P=0.039). Healing time in the union cases had a significant difference (P=0.031). Functional outcome scores in the TiRobot-assisted surgical group were superior to that in the standard group (P=0.014). CONCLUSIONS The findings showed that TiRobot-assisted sacroiliac screw fixation and bone grafting was a safe and effective surgical treatment option that had a reduced radiation dose and improved fracture healing, when compared with standard screw fixation without bone grafting.

Prenatal diagnosis of Duchenne muscular dystrophy revealed a novel mosaic mutation in Dystrophin gene: a case report.

BACKGROUND: Duchenne muscular dystrophies (DMDs) are X-linked recessive neuromuscular disorders with malfunction or absence of the Dystrophin protein. Precise genetic diagnosis is critical for proper planning of patient care and treatment. In this study, we described a Chinese family with mosaic DMD mutations and discussed the best method for prenatal diagnosis and genetic counseling of X-linked familial disorders. METHODS: We investigated all variants of the whole dystrophin gene using multiple DNA samples isolated from the affected family and identified two variants of the DMD gene in a sick boy and two female carriers by targeted next generation sequencing (TNGS), Sanger sequencing, and haplotype analysis. RESULTS: We identified the hemizygous mutation c.6794delG (p.G2265Efs*6) of DMD in the sick boy, which was inherited from his mother. Unexpectedly, a novel heterozygous mutation c.6796delA (p.I2266Ffs*5) of the same gene, which was considered to be a de novo variant, was detected from his younger sister instead of his mother by Sanger sequencing. However, further NGS analysis of the mother and her amniotic fluid samples revealed that the mother carried a low-level mosaic c.6796delA mutation. CONCLUSIONS: We reported two different mutations of the DMD gene in two siblings, including the novel mutation c.6796delA (p.I2266Ffs*5) inherited from the asymptomatic mosaic-carrier mother. This finding has enriched the knowledge of the pathogenesis of DMD. If no mutation is detected in obligate carriers, the administration of intricate STR/NGS/Sanger analysis will provide new ideas on the prenatal diagnosis of DMD.

Inelastic Electron Tunneling in 2H-Ta_{x}Nb_{1-x}Se_{2} Evidenced by Scanning Tunneling Spectroscopy.

We report a detailed study of tunneling spectra measured on 2H-Ta_{x}Nb_{1-x}Se_{2} (x=0∼0.1) single crystals using a low-temperature scanning tunneling microscope. The prominent gaplike feature, which has not been understood for a long time, was found to be accompanied by some "in-gap" fine structures. By investigating the second-derivative spectra and their temperature and magnetic field dependencies, we were able to prove that inelastic electron tunneling is the origin of these features and obtain the Eliashberg function of 2H-Ta_{x}Nb_{1-x}Se_{2} at an atomic scale, providing a potential way to study the local Eliashberg function and the phonon spectra of the related transition-metal dichalcogenides.

Classification of induced malaria case in an elimination setting: investigation of transfusion-transmitted malaria cases.

BACKGROUND: Since the National Malaria Elimination Action Plan was launched in China in 2010, local malaria transmission has decreased rapidly. Zero indigenous cases were reported since 2017. However, after 2010, the proportion of imported cases in China increased from 45.7% in 2010 to 99.9% in 2016, and almost all provinces of China have reported imported cases in recent years. Prevention of the reintroduction of malaria into China is crucial for the maintenance of its malaria-free status. Hence, it is of utmost importance to correctly identify the source of malaria infections within the country. CASE INTRODUCTION AND RESPONSE: In 2016 and 2017, three laboratory-confirmed cases of malaria caused by Plasmodium falciparum were identified in patients with no previous travel history to endemic areas were reported in Jiangsu Province, China, where malaria due to P. falciparum was eliminated about 30 years ago. These were diagnosed after 41, 31 and 39 days of seeking treatment, respectively, and all of them had received blood transfusions. Further investigations indicated that two of the cases had received blood from foreign students (from Indonesia and Ghana), and the other had received blood from an individual who had worked in Equatorial Guinea. All three blood donors were traced, and found to be carrying asymptomatic P. falciparum infections by microscopic examination and PCR. Furthermore, five polymorphic microsatellite markers (C1M4, C4M62, C13M13, C14M17, and C13M63) were typed and used to link parasites from the donors with those of the transfusion-receiving patients. CONCLUSIONS: Three transfusion-transmitted malaria cases were identified in China, all of which were due to the transfusion of blood donated by individuals who had contracted malaria outside the country. These cases can provide a reference for those faced with similar challenges in malaria case identification and classification in other regions. In addition, a stricter screening policy including the use of appropriate detection methods for malaria parasites should be developed and adopted for blood donation in regions undergoing malaria elimination.

Clinical utility and effectiveness of a training programme in the application of a new classification of narrow-band imaging for vocal cord leukoplakia: A multicentre study.

OBJECTIVE: To analyse the application of a new narrow-band imaging (NBI) classification in the diagnosis of vocal cord leukoplakia by laryngologists with different levels of laryngoscopic experience and to explore the impact of NBI training programmes on laryngologists' identification of benign and malignant leukoplakia. DESIGN: Prospective multicentre study. SETTING: Tertiary hospitals. PARTICIPANTS: Sixteen laryngologists were divided into less-experienced and experienced groups and received NBI training course. Thirty cases of vocal cord leukoplakia were investigated. MAIN OUTCOME MEASURES: Diagnostic accuracy and interobserver agreement under white light imaging (WLI), before and after NBI training, were analysed among doctors with varying levels of experience. RESULTS: The accuracy in the less-experienced group was significantly lower than that of experience group (0.59 vs 0.69) under WLI. There was no significant difference in the diagnostic accuracy between the less-experienced group and the experienced group before NBI training (0.75 vs 0.74) and after NBI training (0.79 vs 0.83). NBI training could improve the interobserver agreement from fair or moderate to good agreement. CONCLUSION: The new NBI diagnostic classification is helpful for identifying benign and malignant vocal cord leukoplakia. In addition, the NBI training programme can improve the diagnostic accuracy and interobserver agreement of less-experienced doctors to the level of experienced laryngologists.

A Series of Banana-Shaped 3d-4f Heterometallic Cluster Substituted Polyoxometalates: Syntheses, Crystal Structures, and Magnetic Properties.

Four seven-nuclearity 3d-4f heterometallic cluster {Fe6LnO28} substituted polyoxometalates (HPz)11K4Fe6Ln(µ3-O)2(B-α-GeW9O34)2(GeW6O26)· xH2O (1-Ln, Pz = piperazine, Ln = Tb, Dy, Ho, Er for x = 27, 25, 25, 24, respectively) have been hydrothermally prepared and structurally characterized by single-crystal X-ray diffraction, powder X-ray diffraction, infrared spectrometry, thermogravimetric analyses, elemental analyses, and electrospray ionization mass spectrometry. Single-crystal X-ray diffraction analyses revealed that 1-Ln contain an unprecedented banana-shaped polyanion constructed from an iron-lanthanide heterometallic {Fe6LnO28} cluster, two trilacunary {B-α-GeW9O34} units, and one hexalacunary {GeW6O26} fragment. The magnetic susceptibility surveying proved the presence of antiferromagnetic coupling in 1-Ln.

[Transurethral resection of the prostate for BPH in native Tibetans with different prostate volumes: A single-center retrospective analysis].

OBJECTIVE: To investigate the perioperative parameters and postoperative sexual function and complications in native Tibetans undergoing transurethral resection of the prostate (TURP) for BPH with different prostate volumes. METHODS: From June 2015 to February 2017, 325 native Tibetans with BPH underwent TURP in the People's Hospital of Tibet Autonomous Region. The patients were aged 59－88 years, with a median oxygen saturation level of 84% in the normal status, 24% with hydronephrosis, 40.3% with the history of acute urinary retention, 61.8% with pulmonary hypertension, and 19.1% taking regular medication preoperatively. According to the preoperative prostate volume (PV), the patients were divided into a large PV (LPV) group (PV ≥80 ml, n = 124) and a small PV (SPV) group (<80 ml, n = 201). Perioperative parameters and postoperative sexual function and complications were analyzed and compared between the two groups of patients. RESULTS: The operation time was significantly longer in the LPV than in the SPV group (ï¼»92.36 ± 26.35ï¼½ vs ï¼»56.28 ± 24.61ï¼½ min, P < 0.05) and the intraoperative blood loss was higher in the former than in the latter (ï¼»401.12 ± 50.12ï¼½ vs ï¼»385.15 ± 51.62ï¼½ ml, P < 0.05). Compared with the baseline, at 6 months after operation, the IPSS was significantly decreased in all the patients (22.13 ± 6.23 vs 5.29 ± 1.14 in the LPV group, P < 0.05; 23.04 ± 6.82 vs 5.12 ± 1.28 in the SPV group, P < 0.05), and the maximum urinary flow rate (Qmax) remarkably improved (ï¼»17.46 ± 5.82ï¼½ vs ï¼»5.91 ± 1.86ï¼½ ml/s in the LPV group, P < 0.05; ï¼»17.99 ± 5.86ï¼½ vs ï¼»6.01 ± 1.92ï¼½ ml/s in the SPV group, P < 0.05). The incidence rate of retrograde ejaculation was markedly higher in the LPV than in the SPV group postoperatively (48.4% vs 20.9%, P < 0.05). No statistically significant differences were observed between the two groups of patients in the incidence of postoperative complications (13.71% vs 9.45%, P > 0.05). CONCLUSIONS: TURP is effective and safe for the treatment of BPH native Tibetans with different prostate volumes.

Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT).

Autosomal recessive woolly hair/hypotrichosis (ARWH/HT: OMIM #278150/604379) is a rare hereditary hair disease characterized by tightly curled hair at birth which can lead to sparse hair later in life. The mutations in both LIPH and LPAR6/P2RY5 are responsible for autosomal recessive woolly hair with or without hypotrichosis (ARWH/HT). To conduct clinical and genetic investigations in four patients from three unrelated Chinese Han families with ARWH/HT, we performed mutation screening of LIPH and LPAR6/P2RY5 gene and identified four mutations in LIPH: c.454G>A, c.614A>G, c.736T>A, c.742C>A. c.736T>A and c.742C>A mutations were reported in previous studies, and c.454G>A, c.614A>G were identified for the first time. We carried out functional studies of the two mutants with c.454G>A (p.Gly152Arg, G152R) or c.614A>G (p.His205Arg, H205R). Interestingly, both of them lead to secretion defects of LIPH, which are involved in the pathogenesis of ARWH/HT.