Head Defects Research Articles

Chimeric versus Multiple Flaps for Composite Oral Cavity Defects: A Systematic Review and Meta-Analysis.

Complex head and neck defects involving composite defects can be reconstructed using chimeric flaps or multiple flaps with separate anastomoses. Limited comparisons exist between chimeric and multiple flap reconstructions. We compare outcomes between chimeric and multiple flap reconstructions in oral cavity reconstruction. PubMed (NLM), Embase (Elsevier), Web of Science (Clarivate Analytics), and Cochrane CENTRAL (Wiley). A systematic review was conducted, including English articles reporting outcomes of oral cavity reconstruction with either chimeric flaps or multiple flaps. Data extraction included patient characteristics, flap type, and outcomes such as flap survival, partial flap loss, operating room time, hospital length of stay, and postoperative complications. Forty-seven articles comprising 1435 patients were included. Notably, 552 patients underwent multiple flaps, while 883 received chimeric flaps. Meta-analysis revealed no statistically significant difference in flap survival between chimeric and multiple flap patients (98% vs. 99%, p = 0.198). Multiple flap patients had higher rates of operating room take-backs for anastomotic issues and longer hospital stays compared with chimeric flap patients. There were no significant differences in partial flap failure, resumption of diet and speech, need for subsequent flaps, fistula formation, or general complications. This large-scale meta-analysis demonstrates equivalent flap survival between chimeric and multiple flaps in the reconstruction of composite oral cavity defects. Both approaches appear to be safe and acceptable, with comparable outcomes in terms of diet and speech resumption, rates of fistulization, and general postoperative complications. Multiple flap patients had higher rates of operating room take-backs and longer hospital stays. NA Laryngoscope, 2024.

Ultrasonic Shears Decrease Postoperative Hematomas in Head and Neck Microvascular Reconstruction.

To evaluate postoperative hematoma and takeback rates in a large series of microvascular reconstructions. We sought to determine whether the use of ultrasonic shears reduced these rates. Retrospective cohort study. Tertiary referral hospital. A total of 2288 patients undergoing free flap reconstruction for head and neck defects between 1995 and 2022 were reviewed. Patients undergoing dissection with and without ultrasonic shears were compared to determine postoperative hematoma and takeback rates. The overall hematoma rate was 1.3% (29/2288) for the entire cohort. The postoperative hematoma rates with and without ultrasonic shears were 0.63% (9/1418) and 2.3% (20/870), relative risk = 0.28, P = .0015. Of 870 patients undergoing surgery without ultrasonic shears, 14 (1.61%) were taken back to the operating room for control of bleeding compared to 8 of 1418 (0.56%) in the ultrasonic shears cohort. Our large series of patients undergoing microvascular reconstruction shows a decrease in postoperative hematoma rate and takeback for bleeding with the adoption of ultrasonic shears. Ultrasonic shears are an effective tool that can help decrease perioperative morbidity secondary to hematoma after head and neck tumor resection and microvascular reconstruction.

Retrospective cross-sectional study to evaluate outcome of Loco-regional flaps in head and neck reconstruction in Sudanese patients

Introduction: Soft tissue of Head and neck region poses both aesthetic and functional aspects must be retorted simultaneously, as any defect will be easy recognizable and will affect quality of patient’s life. Reconstruction by local- regional flap still the most popular approach used and outcome also better than other options. Objectives: To assess the outcome of Loco-regional flaps in head and neck reconstruction in Sudanese patients. Patients and Methods: Retrospective cross-Sectional, Multicenteric study (Soba University Hospital, Khartoum North teaching hospital and associated specialized hospital) – Khartoum – Sudan, 84 patients underwent head/neck reconstruction during the period from 2017 up to 2021were included. Results: Out of eighty four patients 47.6% were female, and 52.4% were male. The etiology of head and neck defects in majority (69%) was neoplastic, and in 11.9% was trauma. According to site of defect, in 23.8% of patients was Cheek unit, 21.4% was nasal site, and 16.7% was neck site. Surgery in 85.7% of patients were primary, while in 14.3 was delayed. Fasciocutaneous flaps were used in 64.3%, followed by Myocutaneous flap in 28.6%; Functional outcome was excellent in 61.9%, adequate in 35.7%, and was inadequate in only 2.4%. Majority of patients 66.2% didn’t develop any complications. Conclusion: Loco-regional flaps are ideally useful in covering head and neck defects. It has an acceptable aesthetic and functional outcome in majority of cases. It can be considered as a reliable option for reconstruction especially in resource constrained centers.

CCDC28A deficiency causes sperm head defects, reduced sperm motility and male infertility in mice

Mature spermatozoa with normal morphology and motility are essential for male reproduction. The epididymis has an important role in the proper maturation and function of spermatozoa for fertilization. However, factors related to the processes involved in spermatozoa modifications are still unclear. Here we demonstrated that CCDC28A, a member of the CCDC family proteins, is highly expressed in testes and the CCDC28A deletion leads to male infertility. We found CCDC28A deletion had a mild effect on spermatogenesis. And epididymal sperm collected from Ccdc28a−/− mice showed bent sperm heads, acrosomal defects, reduced motility and decreased in vitro fertilization competence whereas their axoneme, outer dense fibers, and fibrous sheath were all normal. Furthermore, we found that CCDC28A interacted with sperm acrosome membrane-associated protein 1 (SPACA1) and glycogen synthase kinase 3a (GSK3A), and deficiencies in both proteins in mice led to bent heads and abnormal acrosomes, respectively. Altogether, our results reveal the essential role of CCDC28A in regulating sperm morphology and motility and suggesting a potential marker for male infertility.

Comparison of methods for morphological evaluation of sheep spermatozoa using the SPERM BLUE kit and Romanovsky-Giemse staining

The purpose of this study is to test and comparatively evaluate the method of morphological examination of ram sperm using a differentiated staining Sperm Blue and Romanovsky-Giemsa staining. The sperm of Dorper rams was collected and examined. The obtained samples (n=10) were diluted in a ratio of 1:100 (PBS solution) to conduct a morphological assessment of sperm. Two methods were used for the morphological assessment of spermatozoa: a set of differentiated staining Sperm Blue (Microptic, exposure of the smear in the fixative – 10 minutes, in the main dye - 18 minutes) and Romanovsky-Giemsa staining (exposure of the smear in the fixative - 10 minutes, in the main dye – 20 minutes). After routine staining, the smears were washed with distilled water, dried, and microscopy was performed (magnification using a 100x10 immersion objective, oil immersion), followed by a manual method of counting the number of morphological forms of sperm. According to the results of a comparative analysis of stained smears, staining with Sperm Blue allows for a detailed morphological study and differentiation of teratozoospermic characteristics. When stained with Romanovsky-Giemsa, normal spermatozoa were clearly visible, but the acrosome was poorly visualized. Manual calculation of the percentage of normal sperm using both dyes resulted in the same decimal result. A statistically insignificant difference in head and tail defects was found between the dyes used (p = 0.41 and p = 0.77, respectively): Romanovsky-Giemsa staining (7.8% and 34.1%) detected these defects more often than Sperm Blue (6.3% and 32.9%). Considering the results obtained, the use of the Sperm Blue dyes dye in veterinary andrology is relevant, in particular for assesment the morphology of sperm of different animal species with the further development of appropriate protocols in terms of the duration of exposure of the smears themselves to the main dye.

Influence of two collection frequency intervals on sperm quality of standard and miniature bull Terriers during short breeding periods: A clinical field study

Background and Aim: The quality of canine sperm can be influenced by many factors, such as breed, body weight, age, ejaculatory frequency, nutrition, and environment. In the UK, it is common practice for standard Bull Terriers (SBT) and miniature Bull Terriers (MBT) to require male donors during a short breeding period. The aim of this study was to evaluate the effect of semen collection frequency on ejaculate volume and nine sperm parameters in SBT and MBT males, considering age and body condition score (BCS). Materials and Methods: Ejaculates from six adult SBTs and four MBTs were collected 5 times at two consecutive intervals (Time Series [TS]1, 24 h vs. TS2, 48 h), 1 week apart. Ejaculate volume, concentration, total output, viability (live sperm), subjective total motility, vigor, and total morphological defects, including head, midpiece, and tail defects of sperm, were evaluated. A multivariable mixed linear model for repeated measures was used to analyze the effects of semen collection frequency, age, breed, and BCS on ejaculate volume and sperm parameters. Results: Semen collection frequency, age, and, to a lesser extent, breed, and BCS significantly affected sperm parameters. Semen collection frequency affected all sperm parameters (p < 0.05) but not ejaculate volume (p > 0.05). Total sperm output, sperm vigor, total motility, and tail defects decreased (p < 0.05) at the end of TS1. However, sperm parameters remained relatively constant (p > 0.05) in TS2 between semen collection sessions. Overall, poorer sperm parameters were observed in older dogs (aged 5-8 years) than in younger dogs (aged 4 years). MBT produced less (p < 0.001) ejaculate volume (3.2 ± 0.2 mL vs. 4.3 ± 0.2 mL: Least Squares Mean ± Standard Error of Mean), lower total sperm output (221.8 ± 19.2 x 106 vs. 348.6 ± 19.2 x 106) and lower total morphological defects (25.0 ± 1.1% vs. 31.3 ± 0.9%), and a higher percentage of live sperm (77.0 ± 1.4% vs. 71.7 ± 1.1%) than SBT. In addition, a BCS of 4 positively influenced (p < 0.05) viability, vigor, and total sperm motility. Conclusion: Despite differences in age, breed, and BCS, better sperm parameter values were observed in all semen collection sessions. However, intensive semen collection (TS1) appears to be less effective in maintaining good sperm quality. For breeding or artificial insemination purposes, a 48-h interval between collection sessions is recommended for both breeds. The results of this study could be used to further optimize assisted reproductive technologies in both breeds. Keywords: bull terriers, dog, ejaculate, ejaculatory frequency, sperm quality.

Management of Bone Loss in Posterior Glenohumeral Shoulder Instability: Current Concepts.

» Posterior glenohumeral instability is relatively uncommon compared with anterior instability, but is becoming an increasingly recognized and surgically managed shoulder pathology.» Soft-tissue stabilization alone may not be sufficient in patients who present with substantial bone loss to the posterior glenoid and/or the anterior humeral head.» For posterior glenoid defects, posterior glenoid osteoarticular augmentation can be used, and posterior glenoid opening wedge osteotomy can be considered in cases of posterior instability with pathologic retroversion.» For humeral head lesions, several surgical treatment options are available including subscapularis transposition into the humeral head defect, autograft or allograft reconstruction, humeral rotation osteotomy, and shoulder arthroplasty.

Comparative Assessment of Surgical Treatment Results of Patients with Early-Stage Avascular Necrosis of the Femoral Head

Background. The observed sharp increase in patients with avascular necrosis of the femoral head (ANFH) associated with a new COVID-19 infection determines the need to find some new effective strategies for surgical treatment to achieve long-term positive results.
 Aim of the study is to make a comparative assessment of surgical treatment results of patients with early-stage avascular necrosis of the femoral head using different techniques of core decompression and autogenous bone grafting of the femoral head.
 Methods. We performed a comparative analysis of the treatment results of patients with early stages of ANFH. The patients were divided by the treatment method into two groups: control and main. Surgical treatment in the control group (n = 19) consisted of an open decompression and autogenous bone grafting of the femoral head using the Rosenwasser’s “light bulb” technique. The main group (n = 17) included the patients who had undergone the developed combined impaction autografting of the femoral head. Clinical and functional assessment of the treatment results was performed using the Harris Hip Score (HHS) questionnaire and the Western Ontario and McMaster University Osteoarthritis Index (WOMAC) score. Assessment was performed preoperatively and at 3, 6, and 12 months postoperatively.
 Results. The performed comparative analysis showed statistically significant difference in clinical and functional results after operative treatment in patients of the control and the main groups at all follow-ups. Change of the HHS values presented as Me (Q1;Q3) in patients of both groups at 3, 6 and 12 months was 77.0 (68.0;84.0) and 82.0 (75.0;91.0), p = 0.001; 79.0 (69.0;85.0) and 88.0 (79.0;95.0), p0.001; 81.0 (71.0;86.0) and 90.0 (85.0;92.0), p0.001, respectively. According to the WOMAC, the following dynamics was revealed for the same values: 30.0 (25.0;35.0) and 25.0 (21.0;32.0), p = 0.002; 27.0 (22.0;33.0) and 20.0 (17.0;27.0), p0.001; 24.0 (17.0;30.0) and 15.0 (13.0;24.0), p0.001.
 Conclusion. Comparative assessment of efficacy of the open core decompression with autogenous bone grafting of the femoral head defect using the light bulb technique and closed intralesional resection of necrosis focus with combined impaction grafting of the femoral head showed that the minimal damage to para- and intraarticular tissues when performing the approach to the area of the pathological focus and the main stages of the operation allows to achieve the best clinical and functional results and create optimal conditions for bone remodeling in the grafting area.

Head and neck reconstruction with the superficial circumflex iliac artery perforator (SCIP) free flap: Lessons learned after 73 cases.

Head and neck tissue defects after ablative surgery often require complex and composite reconstructions. The superficial circumflex iliac artery perforator (SCIP) flap is an extremely versatile perforator-based flap with minimal donor site morbidity, which may represent the optimal procedure in this setting. Over the last 5 years, we collected a large base of experience, including both simple and chimeric SCIP-based reconstruction, making this flap our first choice for head and neck reconstructions. Seventy-three patients undergoing ablative head and neck surgery for oncologic pathologies were treated by means of a SCIP flap reconstruction. Patients' mean age was 67 years old (range 37-89), 51 were males and 22 were females. Fifty-eight flaps were simple and 15 were chimeric reconstruction patterns. Indocyanine green perfusion imaging was performed in all cases. All the patients were successfully treated with no flap losses were encountered. Twelve patients encountered postoperative complications: in four cases revision surgery was required for venous congestion, while the remaining cases were managed conservatively (four wound dehiscence and three infections). No patients showed donor site complications. The mean follow-up period was 11 months (range 3-24). Our case series demonstrates the reliability and versatility of the SCIP flap for different kinds of head and neck reconstructions. The chimeric options combined with bone, double skin paddle, and muscle offer a broad variety of functional reconstructive solutions for complex head and neck surgeries. Intraoperative indocyanine green perfusion examination provides a valuable tool to assess and ascertain proper vascularization and post-anastomosis vessel patency in complex microvascular flap-based reconstructions.

Use of the spider limb positioner for fibular free flap reconstruction of head and neck bony defects

BackgroundOsseous and osteocutaneous fibular free flaps are the workhorse of maxillomandibular reconstruction over 30 years after the initial description. Since 2019, we have routinely used the Spider Limb Positioner, adapted from its use in shoulder orthopedic procedures, for fibular free flap harvest. Herein, we describe this novel technique in our cohort. MethodsWe describe our intraoperative setup and endorse the versatility and utility of this technique in comparison to other reported fibular free flap harvest techniques. ResultsThe Spider Limb Positioner was used 61 times in 60 different patients to harvest osseous or osteocutaneous fibular free flaps. Median (range) tourniquet time for flap harvest was 90 (40–124) minutes. No iatrogenic nerve compression injuries or complications related to lower extremity positioning occurred. ConclusionWe describe a novel approach to fibular free flap harvest utilizing the Spider Limb Positioner, which affords optimal ergonomics, visibility, and patient repositioning. There were no nerve injuries or complications related to positioning in our series.

O166: Safety and Efficacy of Autologous Fat Grafting in the Treatment of Radiation-Induced Fibrosis and Contour Defects in Head and Neck Reconstruction

Abstract Background Multimodal treatment for head and neck cancer results in significant functional and cosmetic morbidity, often through contour deformity and radiation-induced skin fibrosis (RIF), affecting head and neck function and cosmesis. Autologous fat grafting is an emerging treatment for RIF. We conducted a retrospective cohort review of patient outcomes following autologous fat transfer for reconstruction of head and neck contour deformity and RIF. Methods A retrospective analysis was performed of patients treated at 2 UK centres between 2009-2022. Patient data collated included demographics, oncological treatment, reconstruction, operative details, and pre- and post-operative patient reported outcome measures (PROMs) including University of Washington Quality of Life Questionnaire (UW-QOL), Derriford Appearance Scale (DAS24) and Patient Outcomes of Surgery (POS). Patients were stratified by indication for AFG. Results A total of 45 patients were identified. 89% of patients (85% RIF, 92% contour deformity) reported cosmetic or functional improvement. Two patients (4%) reported no improvement, and three (7%) were lost to follow-up. Psychological health scores improved in patients following AFG for both RIF and contour deformity patients (DAS24, P< 0.0001). The UW-QOL scores revealed statistically significant improvements in multiple functional domains including appearance, activity, recreation, mood, and anxiety in both patients with RIF and contour deformities. Conclusion This study demonstrates that AFG is an effective technique for the correction of contour deformity and RIF in patients following treatment for head and neck cancer. Patients suffering from RIF demonstrated significant improvements in both functional and psychological domains.

Evaluation of Sperm DNA Fragmentation Using Halosperm Technique after the Freezing–Thawing Process in Men: A Study on the Validation of the SCD Protocol

Background: DNA fragmentation index (DFI) enhances routine semen analysis by providing valuable insights into male reproductive potential. Utilizing Halosperm test, a sperm chromatin dispersion (SCD) assay based on induced condensation. The purpose of this study was to assess sperm DNA damage both before and after freezing. By following the specified kit instructions, an attempt was made to validate the SCD test protocol, with a particular emphasis on the implications of sperm freezing on its DNA integrity.
 Methods: In total, 380 fresh human semen samples from normozoospermic patients were frozen at -20°C for 10 days, using SCD cryopreservation reagent. Routine semen analysis and DNA fragmentation index (DFI) were determined for each sample before freezing and after thawing. Semen morphology and sperm DFI were compared before and after freezing/thawing process.
 Results: There was a significant decrease in sperm normal morphology after thawing (9.31±2.42% vs. 7.1±1.53%, p<0.05, respectively). The sperm head, midpiece, and tail defect rate increased after freezing at -20°C. Moreover, DFI was significantly higher after thawing compared to before freezing (20.71±1.61% before freezing vs. 29.1±0.21% after thawing with p<0.001).
 Conclusion: Cryoconservation of semen samples at -20°C for 10 days using SCD cryopreservation reagent seems to damage sperm morphology, resulting in a reduction in sperm DNA integrity. The measurement of DFI on a fresh sample remains the most reliable technique for obtaining accurate results.

Congenital Zika virus infection impacts on male mouse offspring's reproductive biology.

Congenital ZIKV infection promotes alarming effects on male offspring's reproductive biology. This study showed the presence of the ZIKV antigen in the testis parenchyma, decreased testosterone levels, and sperm abnormalities in male offspring born to infected mothers. Infection with ZIKV during pregnancy is associated with fetal developmental problems. Although neurological issues are being explored more in experimental studies, limited research has focused on the reproductive health consequences for offspring born to infected mothers. In this context, this study aimed to assess the impact of ZIKV infection during pregnancy on the testes and sperm of adult male offspring. Female mice were intraperitoneally inoculated with a Brazil strain of ZIKV during the 5.5th day of embryonic gestation. The offspring were evaluated 12 weeks after birth to analyze cellular and molecular changes in the testes and sperm. A novel approach combining variable-angle spectroscopic ellipsometry and machine learning modeling was also introduced for sperm sample analysis. The study revealed the presence of ZIKV protein in the testis parenchyma of adult male offspring born to infected mothers. It was shown that the testes exhibited altered steroidogenesis and inflammatory mediators, in addition to significant issues with spermiogenesis that resulted in sperm with DNA fragmentation, head defects, and protamination failure. Additionally, sperm dielectric properties and artificial intelligence showed potential for rapid identification and classification of sperm samples from infected mice. These findings provide crucial insights into the reproductive risks for men born from ZIKV-infected pregnant women.

Use of Flow-through Free Flaps in Head and Neck Reconstruction.

Reconstructive obstacles in composite head and neck defects are compounded in reoperated, traumatized, irradiated, and vessel-depleted surgical fields. In cases that require multiple free flaps, recipient vessel accessibility and inset logistics become challenging. Strategic flow-through flap configurations mitigate these issues by supplying arterial inflow and venous outflow to a second flap in a contiguous fashion. This approach (1) permits the use of a singular native recipient vessel, (2) increases the reach of the vascular pedicle, avoiding the need for arteriovenous grafting, and (3) allows for a greater three-dimensional flexibility in configuring soft tissue and bony flap inset. To demonstrate this technique, we conducted a retrospective review of all head and neck reconstruction patients presenting to us from March 2019 to April 2021. We present seven oncological and two traumatic patients (N = 9) who received flow-through free flaps for head and neck reconstruction. The most common flap used as the flow-through flap was the anterolateral thigh flap (N = 7), followed by the fibula flap (N = 2). Mean follow-up time was 507 days. No flap failures occurred. In head and neck reconstruction, the use of the flow-through principle enables uninterrupted vascular flow for two distinct free flaps in single-stage reconstruction for patients with vessel-depleted, irradiated, and/or reoperated fields. We demonstrate that flow-through flaps in the head and neck may be used successfully for a variety of cases and flaps.

Outcomes of Head and Neck Free Tissue Transfer Requiring Vein Grafting: Systematic Review and Meta-analysis.

To systematically review the literature to determine the prevalence of free flap failure in head and neck free flaps requiring vein grafting. Search strategies created in collaboration with a medical librarian were implemented using PubMed, Cochrane, Scopus, Web of Science, and Google Scholar from inception to August 2022. The population of interest included adult and pediatric patients undergoing reconstruction of oncologic or traumatic head and neck defects with a free flap requiring a vein graft that presents the success/failure rate. The primary outcome was the flap failure rate, and the secondary outcome was the flap compromise/revision rate. Inclusion and exclusion criteria were designed to capture all study designs. Initially, 2778 articles were identified by the search strategy. Two reviewers independently performed the review, data extraction for analysis, and a quality assessment. Primary Reporting Items for Systematic Reviews and Meta-analyses guidelines were followed. Meta-analysis was performed using a random effects model. Eleven studies of 789 flaps were included for data extraction. Random effects meta-analysis resulted in an estimated prevalence of free flap failure of 12.30% (95% confidence interval: 6.39%-19.49%, I2  = 77.4%). Taking into account that head and neck free tissue transfers that require a vein graft are typically associated with more challenging reconstructions and the lack of a suitable alternative, vein grafts appear to be a reliable method for bridging the gap between the flap and recipient vessels in head and neck free tissue transfer when indicated.

Correlation between sperm DNA fragmentation index (DFI) with demographic characteristics, sexual history, social habits, chronic illness, BMI: A cross-sectional study

: During an evaluation of infertile men when all standard semen parameters are normal, a significant proportion of infertile men are found to have increased levels of DNA damage that may adversely affect fertility. To evaluate the correlation between sperm DNA Fragmentation Index (DFI) with demographic characteristics, sexual history, social habits, chronic illness, BMI, physical characteristics, and abstinence period. The current study was carried out among male patients visiting an infertility clinic at SDM College of Medical Sciences and Hospital, Dharwad.The present has shownno statistically significant association between DFI and socio-demographic characteristics like age, married life, contraceptive usage, sexual factors, personal habits, chronic illness, BMI, and physical characteristics of semen analysis like liquefaction and viscosity of the study participants. DFI categories and semen traits including normal forms, head defects, tail defects, amorphous forms, droplet forms, and viable sperms had different means, however these differences (p=0.4378) were not statistically significant.

KISSING NEVUS RECONSTRUCTION WITH A SUPRACLAVICULAR GRAFT: A RARE CASE REPORT

Introduction : Kissing nevus is a rare form of congenital nevus that occurs on upper and lower eyelid of one eye, forming a large nevus when the eyelids are closed. This condition causes functional and aesthetic problems thus the reconstruction is essential.
 Case Illustration : A 23-years old female presented to our ophthalmology outpatient clinic with complain of having painless, black colored, non-progressive nevus over left upper and lower eyelids since birth that cosmetically unpleasing. The dark brown-black colored was sized 55x30 mm with hypertrichosis covering approximately two third of both left upper and lower eyelid margins and extending to cheek. The entire nevus was excised and reconstructed by supraclavicular full thickness skin graft, lateral canthopexy and canthoplasty. Three weeks after operation showed satisfactory results. Histological examination revealed intradermal nevus pigmentosus.
 Discussion : The reconstruction of eyelid after excision remains a challenge because of its specialized function and cosmetic significance. Ideally, the reconstruction should provide a stable eyelid margin, protect the ocular surface, and sustain mobility. Free skin grafts harvested from the control lateral eyelid, postauricular, supraclavicular, and upper arm region have been the most common reconstructive approach. The supraclavicular area is a reliable donor option to cover large head and neck defects due to its similarity in colour, thickness, and flexibility.
 Conclusion : Free supraclavicular graft is safe, reliable and cosmetically acceptable choice for reconstruction head and neck defects.

A loss-of-function variant in ZCWPW1 causes human male infertility with sperm head defect and high DNA fragmentation.

Male infertility is a global health issue. The more causative genes related to human male infertility should be further explored. The essential role of Zcwpw1 in male mouse fertility has been established and the role of ZCWPW1 in human reproduction needs further investigation to verify. An infertile man with oligoasthenoteratozoospermia phenotype and his parents were recruited from West China Second University Hospital, Sichuan University. A total of 200 healthy Han Chinese volunteers without any evidence of infertility were recruited as normal controls, while an additional 150 infertile individuals were included to assess the prevalence of ZCWPW1 variants in a sporadic male sterile population. The causative gene variant was identified by Whole-exome sequencing and Sanger sequencing. The phenotype of the oligoasthenoteratozoospermia was determined by Papanicolaou staining, immunofluorescence staining and electron microscope. In-vitro experiments, western blot and in-silicon analysis were applied to assess the pathogenicity of the identified variant. Additionally, we examined the influence of the variant on the DNA fragmentation and DNA repair capability by Sperm Chromatin Dispersion and Neutral Comet Assay. The proband exhibits a phenotype of oligoasthenoteratozoospermia, his spermatozoa show head defects by semen examination, Papanicolaou staining and electron microscope assays. Whole-exome sequencing and Sanger sequencing found the proband carries a homozygous ZCWPW1 variant (c.1064C > T, p. P355L). Immunofluorescence analysis shows a significant decrease in ZCWPW1 expression in the proband's sperm. By exogenous expression with ZCWPW1 mutant plasmid in vitro, the obvious declined expression of ZCWPW1 with the mutation is validated in HEK293T. After being treated by hydroxyurea, MUT-ZCWPW1 transfected cells and empty vector transfected cells have a higher level of γ-H2AX, increased tail DNA and reduced H3K9ac level than WT-ZCWPW1 transfected cells. Furthermore, the Sperm Chromatin Dispersion assay revealed the proband's spermatozoa have high DNA fragmentation. It is the first report that a novel homozygous missense mutation in ZCWPW1 caused human male infertility with sperm head defects and high DNA fragmentation. This finding enriches the gene variant spectrum and etiology of oligoasthenoteratozoospermia.

Arthroscopic humeral head defect filling with osteochondral autografts transplantation for near-track Hill-Sachs lesions

Arthroscopic humeral head defect filling with osteochondral autografts transplantation for near-track Hill-Sachs lesions

An Improved Empirical Wavelet Transform Filtering Method for Rail-Head Surface-Defect Magnetic-Flux Leakage Signal

The rail is an important factor in railway traffic safety. Surface defects in the rail head comprise a common type of rail damage, and magnetic flux leakage (MFL) technology is applied for its detection. MFL detection is influenced by various factors, resulting in high noise and a low signal-to-noise ratio (SNR) in the collected MFL signal, which influence defect assessment. This article improves the empirical wavelet transform (EWT) to apply it to rail surface-defect MFL signal filtering. A boundary optimization method based on mutual information (MI) is proposed to reduce the boundary redundancy caused by adaptive spectrum division. A method for component selection based on MI and kurtosis is proposed to select the suitable components from the decomposed components for signal reconstruction. The experimental results show that the method can effectively filter out the interference in the MFL signal, and the effectiveness is superior to the traditional methods, such as complementary ensemble empirical mode decomposition (CEEMD) and wavelet transform (WT).