Unilateral Posterior Polymorphous Corneal Dystrophy Presented as Anisometropic Astigmatism: 3 Case Reports

Background: Posterior polymorphous corneal dystrophy (PPCD) is typically considered bilateral and asymptomatic. However, few case reports on patients with unilateral PPCD with asymmetric refractive error have mentioned anisometropic amblyopia development. In support of this, we report 3 cases of unilateral PPCD that presented as anisometropic astigmatism. Visual prognosis related to amblyopia development is discussed. Case Presentation: All 3 patients had a band lesion in the affected eye and a difference of at least 1.5 diopters in cylindrical refractive error between their eyes. The affected eye had a greater amount of astigmatism in all cases. Two patients (Cases 1 and 2) also had amblyopia in the affected eye. Case 1 was a 25-year-old male with a unilateral PPCD diagnosis and a band lesion involving the visual axis. Case 2 was an 11-year-old boy diagnosed with unilateral PPCD. The boy was treated with occlusion and atropine therapy over a 2-year period. Case 3 was a 4-year-old girl diagnosed with unilateral PPCD. The girl had a 30-month history of corrective spectacle use and had no amblyopia. In all cases, the corneal endothelial cell count was lower in the affected eye than in the unaffected contralateral eye. Conclusions: Practitioners should closely monitor patients with unilateral PPCD for astigmatic anisometropia and amblyopia development. Visual prognosis for patients with unilateral PPCD may be related to lesion position, age at diagnosis, astigmatism severity, and early-childhood corrective spectacle use.
Case Rep Ophthalmol 2017;8:250–258

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TGFβ splicing and canonical pathway activation in high-grade serous carcinoma

Abstract

The present study analyzed the expression and clinical role of the transforming growth factor-β (TGFβ) pathway in high-grade serous carcinoma (HGSC), with focus on malignant effusions. TGFβ1–3 and TGFβRI–III mRNA expression by qRT-PCR was analyzed in 70 HGSC effusions and 55 solid specimens (28 ovarian, 27 abdominal metastases). Protein expression of Smad2 and Smad3 and their phosphorylated forms by Western blotting was analyzed in 73 specimens (42 effusions, 13 ovarian carcinomas, 18 solid metastases). Expression was analyzed for association with anatomic site and clinical parameters, including survival. TGFβRI and TGFβRII mRNA was overexpressed in effusions and solid metastases, particularly the former, compared to that in the ovarian tumors (p < 0.001 to p = 0.05), with anatomic site-dependent expression of splice variants. Conversely, Smad2, p-Smad2, and p-Smad3 were overexpressed in solid specimens (ovarian and peritoneal) compared to those in effusions (p < 0.001 for all). In univariate survival analysis, higher TGFβRI variant 1 and TGFβRIII mRNA levels were associated with a trend for shorter overall survival in patients with post-chemotherapy effusions (p = 0.066 and p = 0.087, respectively), and the latter was an independent prognostic marker in Cox multivariate analysis (p = 0.041). Smad3 protein expression was associated with a trend for shorter overall survival in univariate survival analysis (p = 0.052). TGFβ receptor splice variant expression is anatomic site-dependent in HGSC. Elevated levels of TGFβ signaling pathway mRNAs are seen in metastatic HGSC, but are not accompanied by increased Smad expression and activation in HGSC effusions, evidence of failure to activate canonical TGFβ signaling. Assessment of the prognostic role of this pathway in HGSC effusions merits further research.

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Toward personalized management in bladder cancer: the promise of novel molecular taxonomy

Abstract

Empowered by the recent advances in next generation sequencing and bioinformatics technology, an unprecedented wave of integrated transcriptomic and genomic studies have impacted the field of bladder cancer. These studies not only have confirmed previously charted genetic pathways in bladder cancer development but also have led to the discovery of numerous additional crucial driver genetic alterations. As a result, a novel genomic-based taxonomy is emerging that promises to better define clinically relevant intrinsic subtypes of bladder cancer. The current review is an update on the above advances and their significant implications on the future of bladder cancer patient management.

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Induction chemotherapy (ICT) followed by radiochemotherapy for locally advanced head and neck cancer as an individual treatment approach – feasibility, safety and retrospective survival analysis in twenty-three patients

Abstract

Head and neck squamous cell carcinoma (HNSCC) patients with locoregionally advanced disease usually require multi-modality treatment including surgery, chemotherapy, and radiotherapy. Currently, cisplatin-based concurrent chemoradiation (CRT) remains the gold-standard for these patients [1]. Induction chemotherapy (ICT) prior to definitive therapy is regarded as an effective approach to shrink locally advanced disease allowing more effective and less toxic therapy, to select patients for organ preservation, to improve radiotherapy effectiveness, and also to potentially decrease the risk of distant metastasis due to initial systemic exposure [2].

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Primary Laryngeal Sarcomas in a Mexican Population. Case series of eleven cases

Abstract

Sarcomas are mesenchymal tumors that represent 1% of malignant diseases in humans. Of these, 4–10% occur in the head and neck and only <1% occur in the larynx.¹ These groups of neoplasms have a wide range of histological variants and, accordingly, their clinical behavior varies widely, from slow-growing, relatively circumscribed tumors, to rapidly growing, locally invasive malignancies. In addition, the heterogeneity of the location of the laryngeal anatomic sub-sites require special therapeutic considerations.^2, The most common non-epithelial tumor is chondrosarcoma, which represents 0.5% of laryngeal tumors.³

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Transoral orthodromic temporalis muscle transfer technique for the paralysed midface: Our learning curve experience from the first 10 cases

Abstract

Sir Harold Gillies first described rotating a band of temporalis muscle over the zygoma where the muscle sling was augmented with strips of fascia lata to rehabilitate facial paralysis ¹. McLaughlin later modified this technique in the 1950s without inversion of the temporal muscle but in an orthodromic manner thus avoiding the soft tissue fullness over the zygomatic arch area and depression of the donor site ². Although several refinements of this technique have been described, all required skin incisions on the face until a transoral technique was described recently by this clinical group ³.

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Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11

Publication date: June 2017
Source:International Journal of Pediatric Otorhinolaryngology, Volume 97
Author(s): Josephine W.I. van Nierop, Dorothée C. van Trier, Ineke van der Burgt, Jos M.T. Draaisma, Emmanuel A.M. Mylanus, Ad F. Snik, Ronald J.C. Admiraal, Henricus P.M. Kunst
Existing literature only reports a few patients with Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) who underwent cochlear implantation (CI). The present study describes four NS patients and one NSML patient with a PTPN11 mutation. They all had severe to profound hearing loss, and they received a CI. The age at which the CI surgery occurred ranged from 1 to 13 years old, and the audiological results in all five patients improved after the CI. Otological and audiological examinations in NS and NSML are important, and for those with severe hearing loss, the CI surgery improved the audiological outcome regardless of age.



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