Naked (N) mutant mice carry a nonsense mutation in the homeobox of Hoxc13

xlomafota13 shared this article with you from Inoreader Naked (N) mutant mice carry a nonsense mutation in the homeobox of Hoxc13 Via Experimental Dermatology ABSTRACT Loss-of-function mutations in HOXC13 have been associated with Ectodermal Dysplasia-9, Hair/Nail Type (ECTD9) in consanguineous families, characterized by sparse to complete absence of hair and nail dystrophy. Here we characterize the spontaneous mouse mutation Naked (N) as a terminal truncation in the Hoxc13 (homeobox C13) gene. Similar to previous reports for homozygous Hoxc13 KO mice, homozygous N/N mice exhibit generalized alopecia with abnormal nails and a short lifespan. However, in contrast to Hoxc13 heterozygous KO mice, N/+ mice show generalized or partial alopecia, associated with loss of hair fibers, along with normal lifespan and fertility. Our data point to a lack of nonsense-mediated Hoxc13 transcript decay and the presence of the truncated mutant protein in N/N and N/+ hair follicles, thus suggesting a dominant-negative mutation. To our knowledge, this is the first report of a semi-dominant and potentially dominant-negative mutation affecting Hoxc13/HOXC13. Furthermore, recreating the N mutant allele in mice using CRISPR/Cas9-mediated genome editing resulted in the same spectrum of deficiencies as those associated with the spontaneous Naked mutation, thus confirming that N is indeed a Hoxc13 mutant allele. Considering the low viability of the Hoxc13 KO mice, the Naked mutation provides an attractive new model for studying ECTD9 disease mechanisms. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Early Outcome of Endoscopic Third Ventriculostomy With Choroid Plexus Cauterization Versus Ventriculoperitoneal Shunt as Primary Treatment of Hydrocephalus in Children With Myelomeningocele: A Prospective Cohort Study

xlomafota13 shared this article with you from Inoreader Early Outcome of Endoscopic Third Ventriculostomy With Choroid Plexus Cauterization Versus Ventriculoperitoneal Shunt as Primary Treatment of Hydrocephalus in Children With Myelomeningocele: A Prospective Cohort Study Via leak of cerebrospinal fluid Oper Neurosurg (Hagerstown). 2021 Oct 18:opab314. doi: 10.1093/ons/opab314. Online ahead of print. ABSTRACT BACKGROUND: Myelomeningocele is associated with hydrocephalus in 35% to 90% of cases. Hydrocephalus is usually treated with insertion of ventriculoperitoneal shunt; however, there is growing evidence that endoscopic third ventriculostomy (ETV) with choroid plexus cauterization (CPC) is an alternative. OBJECTIVE: To compare the success rate and morbidity of ETV with CPC and ventriculoperitoneal shunt (VPS) as the primary treatment of hydrocephalus in patients with myelomeningocele. METHODS: A prospective study from January 2016 to February 2019, involving 46 patients with myelomeningocele who developed hydrocephalus after repair in a tertiary hospital in southwestern Nigeria. Biodata and preoperative features of hydrocephalus were documented. ETV + CPC or VPS was done using standard operative techniques. Patients were followe d up monthly for 6 mo. RESULTS: There were 23 patients in the ETV + CPC arm and 22 patients in the VPS arm. Morbidities were cerebrospinal fluid leak, 8.3% in the ETV + CPC arm and 4.5% in the VPS arm, wound dehiscence, 13.6% in the VPS arm, none in the ETV + CPC arm. At 6-mo follow-up, success rate for ETV + CPC was 60.9% and 59.1% for VPS, P = .9. CONCLUSION: ETV + CPC had similar success rate with VPS at 6 mo with lower morbidity. ETV + CPC should be considered a viable alternative when treating patients with myelomeningocele and hydrocephalus. PMID:34662909 | DOI:10.1093/ons/opab314 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

A novel loop neurorrhaphy technique to preserve lower lip sensate in mandibular reconstruction using an innervated vascularized iliac bone flap

xlomafota13 shared this article with you from Inoreader A novel loop neurorrhaphy technique to preserve lower lip sensate in mandibular reconstruction using an innervated vascularized iliac bone flap Via Head & Neck Abstract Background This study aimed to introduce a novel loop neurorrhaphy technique using an innervated vascularized iliac bone flap (VIBF) with vascularized ilioinguinal nerve (IIN) to reconstruct the inferior alveolar nerve (IAN) and preserve lower lip sensation simultaneously with mandibular reconstruction. Methods This study prospectively included patients who underwent mandibular reconstruction using VIBF from May 2018 to April 2020. Subjects were allocated into two groups: (1) Group I; innervated VIBF with loop neurorrhaphy (IIN doubly anastomosed with IAN and mental nerve), (2) Group II (control); conventional VIBF. Evaluation was done with operative time, intraoperative indocyanine green (ICG), lower lip sensory assessment (two-point discrimination [TPD] test and current perception threshold [CPT]), and drooling. Results Twelve patients were included; 6 in each group, (7 males and 5 females), age ranging from 18 to 57 years (average: 36.75 years). In all cases, intraoperative perfusion of IIN was confirmed by ICG. Group I showed a statistically significant more flap harvesting time compared with group II (mean difference, 5.67 min; P = 0.0091). There was a significant difference in sensory recovery favoring group I (P < 0.05). The TPD results in group I showed an average of 9.8 ± 6.9 mm and 6.2 ± 5.7 mm on operated and non-operated sides, while Group II showed a poor sensory recovery, and the TPD showed an average of 24.6 ± 6.7 mm and 8.4 ± 2.3 mm on operated and non-operated sides. The CPT results showed a significant difference between both groups. In Group I, the extent of drooling was 3.16 ± 0.75, while in Group II, the score was 1.6 ± 0.81, revealing a significant difference favoring Group I. Conclusions Concurrent mandibular reconstruction using VIBF and loop neurorrhaphy with vascularized IIN to reconstruct IAN successfully restore lower jaw form and preserve lip sensation. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Comparison of extraperitoneal laparoscopic and extraperitoneal Senhance radical prostatectomy

xlomafota13 shared this article with you from Inoreader Comparison of extraperitoneal laparoscopic and extraperitoneal Senhance radical prostatectomy Via The International Journal of Medical Robotics and Computer Assisted Surgery Abstract Background Senhance is novel robotic platform which can be used to perform radical prostatectomy. We compare our results of robotic radical prostatectomy to similar patients operated with laparoscopic technique. Results There was no difference in the operative time, estimated blood loss, positive surgical margins, length of hospitalization, and catheterization. There were 4 (6.5%) Clavien-Dindo grade I complications, and 5 (8.1%) late complications in laparoscopy. There were 6 (5.6%) Clavien-Dindo grade I, 3 (2.8%) grade II, 1 (0.9%) grade IV complications, and 2 (1.9%) late complications in robotic group. Conclusion Senhance robot-assisted radical prostatectomy is safe, feasible and offers good and comparable functional and oncological outcomes to laparoscopy. The transition to robotic surgery with a relatively fast learning curve can be done effectively for surgeons with previous laparoscopic experience. This article is protected by copyright. All rights reserved. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Concurrent Chemoradiotherapy with Cisplatin and Docetaxel for Head and Neck Squamous Cell Carcinoma

xlomafota13 shared this article with you from Inoreader Concurrent Chemoradiotherapy with Cisplatin and Docetaxel for Head and Neck Squamous Cell Carcinoma Via Clinical Otolaryngology Abstract Objectives Concurrent chemoradiotherapy (CCRT) with high-dose cisplatin is considered as the global standard therapy to treat patients with advanced head and neck cancer (HNSCC). High doses of cisplatin (100mg/m2) induce severe adverse effects that hinder the completion of therapy, and late toxicity, including renal dysfunction, may prevent patients from receiving treatment with second-line chemotherapies. Design We retrospectively analyzed the effect of CCRT combined with moderate-dose cisplatin (4x15 mg/m2) and docetaxel (50 mg/m2) in 83 patients with locally advanced HNSCC. Results The median follow-up period was 31 months (range 3-100 months). Radiotherapy was completed in 98% of patients including 36 patients (43%) aged 70 or older. The overall complete response rate was 87% with preserving renal function. The 3-year overall survival, disease-specific survival and progression-free survival rates were 71%, 81% and 70%, respectively. The 3-year disease-specific survival with organ preservation was 79%. Conclusion CCRT with a combination of moderate-dose cisplatin and docetaxel in HNSCC patients was well tolerated; it also demonstrated comparable clinical responses to CCRT using high-dose cisplatin View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Diabetes is a Risk Factor for Hearing Loss in Older Adults: Results of a Community Screening Programme

xlomafota13 shared this article with you from Inoreader Diabetes is a Risk Factor for Hearing Loss in Older Adults: Results of a Community Screening Programme Via Clinical Otolaryngology ABSTRACT Objectives To investigate the association between diabetes mellitus (DM) and the prevalence and severity of hearing loss, in a population of community-dwelling older adults in Singapore. Materials and Methods This is a retrospective, cross-sectional study of 1787 adults aged 60-100 who had undergone a comprehensive audiological assessment in a community-based audiology clinic. Data extracted included their age, hearing profile, medical history and comorbidities collected through verbal interview at the point of audiologic assessment. Multivariate linear regression and multivariate logistic regression were performed to investigate the relationship between DM and hearing loss. Results The prevalence of DM in our studied population is 17.9%. After controlling for age, gender, race, hypertension and hyperlipidemia status, DM was found to be independently associated with at least moderate hearing loss (Adjusted OR 1.3 [95% CI 1.06-1.59], p=0.012). This was especially so in the younger (<70) age group (Adjusted OR 1.7 [95% CI 1.18-2.44], p=0.004). Conclusion DM is an independent risk factor for the presence of at least moderate hearing in community-dwelling seniors. Individuals aged <70 with DM should be screened for hearing loss to enable early intervention. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Long‐term outcomes of Aminolevulinic Acid Photodynamic Therapy for Treatment of Recalcitrant Laryngeal Premalignant Lesions

xlomafota13 shared this article with you from Inoreader Long‐term outcomes of Aminolevulinic Acid Photodynamic Therapy for Treatment of Recalcitrant Laryngeal Premalignant Lesions Via Clinical Otolaryngology Abstract Objective Assess long-term outcomes of ALA-PDT in treating recalcitrant laryngeal leukoplakia. Study design Retrospective Case-Control. Methods We reviewed all laryngeal leukoplakia patients treated with ALA-PDT compared with angiolytic laser treatment alone (585nm PDL or 532nm KTP laser) from 2000 to 2019. Patients with laryngeal cancer (or a history of laryngeal cancer), leukoplakia previously treated with radiation and no pathologic report were excluded. Patient demographics, procedure details, and outcomes were examined including histopathologic diagnosis, procedures performed, ALA usage, recurrence of leukoplakia, and the development of cancer. Results We identified 132 patients with laryngeal leukoplakia: 42 were treated with ALA-PDT and 90 were treated with an angiolytic laser alone (Laser group). The proportion of cases of high-grade dysplasia was 57.1% in the ALA-PDT group compared to 32.2% in the Laser group. In high-grade dysplasia cases, there was a statistically significant better recurrence-free survival (RFS) at 12 months and 60 months in those who underwent ALA-PDT 71.4% and 7.1% vs Laser 25% and 0% (P=0.01). However, for overall group there was no difference in RFS (P=0.25). Voice outcomes (Patient subjective report) improved or were stable in 75% of subjects with no serious side effects reported. Conclusion ALA-PDT for recalcitrant and high-grade dysplasia is highly effective with improved recurrence-free survival compared to laser alone. ALA-PDT may be an appropriate therapy in patients who have failed prior angiolytic laser alone. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

The prevalence of CFTR mutations in patients with chronic rhinosinusitis: A systematic review and meta‐analysis.

xlomafota13 shared this article with you from Inoreader The prevalence of CFTR mutations in patients with chronic rhinosinusitis: A systematic review and meta‐analysis. Via Clinical Otolaryngology Abstract Objectives Undetected cystic fibrosis transmembrane regulator (CFTR) mutations may predispose individuals to develop CRS independent of formal CF diagnosis. The objective of this study was to determine the prevalence of CFTR mutations among individuals with CRS. Design A systematic search following PRISMA guidelines was performed. A meta-analysis was performed to calculate pooled estimates for the prevalence of any CFTR mutation and for the DF508 mutation. Setting and participants The systematic search included all studies identifying adults diagnosed with CRS, with no limitation to region or publication date. Studies had to identify a sample of patients previously diagnosed with CRS but not with CF and reporting testing for the prevalence of CF or the CFTR gene mutation Main outcome measures Prevalence of CFTR mutations among the general CRS population, with subgroup analysis of individuals with the dF508 mutation. Results and conclusions The 6 included studies represented five countries: the US, the UK, France, Poland, and Finland. The pooled prevalence of CFTR mutations of any kind in CRS subjects without CF was 5.65% (RE 95% CI 2.99 – 10.41). The overall prevalence for the dF508 mutation was 4.22% (RE 95% CI 1.71 – 10.07). These estimates were significantly higher than the baseline estimated prevalence of CFTR carrier status of 3-4% in the general population. However, the clinical relevance of the presence of CFTR mutations in CRS patients who have not been diagnosed with CF is currently unclear. Future studies should include sweat chloride testing as a measure of CFTR function. View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Single-cell transcriptomic analysis of the tumor ecosystems underlying initiation and progression of papillary thyroid carcinoma

xlomafota13 shared this article with you from Inoreader Single-cell transcriptomic analysis of the tumor ecosystems underlying initiation and progression of papillary thyroid carcinoma Via radioactive iodine Nat Commun. 2021 Oct 18;12(1):6058. doi: 10.1038/s41467-021-26343-3. ABSTRACT The tumor ecosystem of papillary thyroid carcinoma (PTC) is poorly characterized. Using single-cell RNA sequencing, we profile transcriptomes of 158,577 cells from 11 patients' paratumors, localized/advanced tumors, initially-treated/recurrent lymph nodes and radioactive iodine (RAI)-refractory distant metastases, covering comprehensive clinical courses of PTC. Our data identifies a "cancer-primed" premali gnant thyrocyte population with normal morphology but altered transcriptomes. Along the developmental trajectory, we also discover three phenotypes of malignant thyrocytes (follicular-like, partial-epithelial-mesenchymal-transition-like, dedifferentiation-like), whose composition shapes bulk molecular subtypes, tumor characteristics and RAI responses. Furthermore, we uncover a distinct BRAF-like-B subtype with predominant dedifferentiation-like thyrocytes, enriched cancer-associated fibroblasts, worse prognosis and promising prospect of immunotherapy. Moreover, potential vascular-immune crosstalk in PTC provides theoretical basis for combined anti-angiogenic and immunotherapy. Together, our findings provide insight into the PTC ecosystem that suggests potential prognostic and therapeutic implications. PMID:34663816 | DOI:10.1038/s41467-021-26343-3 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

Bilateral sudden sensorineural hearing loss in patient with Behçet disease

xlomafota13 shared this article with you from Inoreader Bilateral sudden sensorineural hearing loss in patient with Behçet disease Via ear nose throat Ear Nose Throat J. 2021 Oct 18:1455613211051660. doi: 10.1177/01455613211051660. Online ahead of print. ABSTRACT Bacckground: Approximately 80% to 85% of sudden sensorineural hearing loss (SSNHL) is idiopathic, but immune-mediated mechanisms are thought to be involved. Behçet disease is an autoinflammatory vasculitis that may involve vessels of the inner ear. It can cause sensorineural hearing loss (SNHL) and an increased risk of SSNHL. Study Sample: We report a 21-year-old man who was diagnosed with Behçet disease in childhood and presented to our clinic with a 10-day history of abrupt hearing deterioration in both ears. Pure-tone audiometry showed severe to profound bilateral SNHL. Results: Oral prednisolone was prescribed for 3 weeks. Concurrent intratympanic steroid injections (ITSIs) were administered in each ear every 2 days for 5 days. A total of 15 daily sessions of hyperbaric oxygen therapy (HBOT) were completed. Acupuncture was performed every 2 days for 1 month. After these combined therapies, the patient's hearing threshold by 20 dB and his speech recognition threshold were improved. Conclusions: Some patients with SSNHL recover no hearing improvement after routine treatment, and alternative treatments including ITSI, HBOT, and acupuncture can be considered as optional. We used an aggressive multimodal approach to treat severe bilateral SSNHL in patient with Behçet disease. PMID:34663117 | DOI:10.1177/01455613211051660 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.

The Roles Played by Blood Inflammatory Parameters in Sudden Sensorineural Hearing Loss

xlomafota13 shared this article with you from Inoreader The Roles Played by Blood Inflammatory Parameters in Sudden Sensorineural Hearing Loss Via ear nose throat Ear Nose Throat J. 2021 Oct 18:145561320960355. doi: 10.1177/0145561320960355. Online ahead of print. ABSTRACT OBJECTIVE: The etiology of sudden sensorineural hearing loss (SSNHL) remains unknown; inflammation may be one cause. We retrospectively studied SSHNL cases in terms of the inflammatory parameters involved. METHODS: We reviewed 169 SSNHL cases. The control group contained 132 patients with vocal cord polyps. The C-reactive protein (CRP) level, CRP/serum albumin (Alb) ratio, and neutrophil/lymphocyte ratio (NLR) were compared between the 2 groups. The relationships between these parameters and the time to treatment after SSHNL onset, hearing level, and therapeutic effects were also analyzed. RESULTS: The CRP level, CRP/Alb ratio, and NLR were higher in SSNHL patients than in controls, but only the NLR differed significantly between the 2 groups. We found no significant differences between patients with different hearing levels, those evaluated at various times after SSNHL onset, and those with different outcomes. CONCLUSION: The NLR is a reliable SSNHL diagnostic marker. The CRP level and CRP/Alb ratio are not useful indicators. PMID:34663107 | DOI:10.1177/0145561320960355 View on the web Inoreader. Take back control of your news feed. Follow us on Twitter and Facebook.