XRCC1和XPD单核苷酸多态性与非小细胞肺癌铂类药物化疗敏感性的关系

目的研究X线修复交叉互补基因1（XRCC1）和着色性干皮病基因（XPD）单核苷酸多态性与老年晚期非小细胞肺癌（NSCLC）铂类药物化疗敏感性关系。方法应用聚合酶链反应结舍限制性片段长度多态性（PCR-RFLP）的方法检测81例以铂类药物为主要化疗方案的NSCLC患者XRCC1 Arg399Gln和XPD Lys751Gin基因型多态性，采用非条件Logistic回归分析不同基因型与化疗疗效的关系。结果81例患者化疗总有效率为35．8％，其中完全缓解（CR）、部分缓解（PR）、稳定（SD）和进展（PD）患者分别为0、29、31、21例。携带至少1个XRCC1 399Arg等位基因的患者化疗敏感性是携带Gln／Gln基因型患者的4.52倍（OR=4．52，95％CI=1.11—18．38）。未发现XPD Lys751Gin遗传多态与化疗敏感性相关。结论XRCC1 Arg399Gln多态可能与晚期NSCLC铂类药物化疗敏感性有关。     

Outcomes of keratoplasty in a cohort of Indian patients with xeroderma pigmentosum

Purpose:To evaluate the outcomes of keratoplasty for xeroderma pigmentosum (XP) performed at a tertiary eye care center.Methods:A retrospective review of medical records of those patients who were clinically diagnosed to have XP (54 eyes of 36 patients) and underwent keratoplasty; either deep anterior lamellar keratoplasty (DALK, four eyes), endothelial keratoplasty (EK, eight eyes), or penetrating keratoplasty (PK, 42 eyes) from 1994 to 2018.Results:The median age at surgery was 20.6 years (interquartile range [IQR], 14.6–27.6 years) and 20 (55.6%) were males. Graft failure occurred in 15 eyes (35.7%) in the PK group and two eyes (50%) in the DALK group; none failed in the EK group. The probability of graft survival in the PK group was 97.2% ± 2.7% at 1 year, 74.0% ± 8.0% at 2 years, and 54.8% ± 11.7% at 5 years. In the PK group, 13 eyes needed antiglaucoma medications, 11 eyes developed graft infiltrate, and 13 eyes needed secondary interventions (cataract surgery, excision biopsy, and tarsorrhaphy). In the EK group, three eyes needed secondary interventions (excision biopsy). Median postoperative endothelial cell density at the last follow-up in the PK group was 1214 cells/mm² (IQR, 623–2277 cells/mm²).Conclusion:Despite the complexities of the ocular surface and adnexal issues in XP, keratoplasty had reasonably good outcomes. More than half of the PK grafts survived 5 years with no failures in the EK group. Regular follow-up and timely management of suture-related infections raised intraocular pressure, and suspicious ocular surface lesions, in addition to solar protection, are important for the success of keratoplasty in these eyes.     

Dermoscopy of skin lesions in two patients with xeroderma pigmentosum

BACKGROUND: Xeroderma pigmentosum (XP) is a rare disorder produced by a genetic defect in the repair of DNA damage caused by ultraviolet radiation. The early diagnosis of malignant skin tumours is crucial in the survival of patients with XP, but this is not easy even for experienced dermatologists due to the presence of a high number of actinic lesions. Dermoscopy is a new diagnostic method that increases the diagnostic accuracy for skin tumours. OBJECTIVES: To describe the clinical and dermoscopic features of different benign and malignant lesions [focusing on malignant melanoma, basal cell carcinoma (BCC) and benign melanocytic naevi] in two patients with XP. METHODS: Three dermatologists with experience in pigmented skin lesions and dermoscopy examined two siblings with XP over a period of 54 months. Diagnosis of skin tumours was obtained using clinical examination and dermoscopy with 10-fold magnification and digital images. All the tumours with criteria of malignancy were excised for further histopathological analyses. RESULTS: Multiple skin tumours showing some degree of pigmentation were detected in the patients. Clinical and dermoscopic examination allowed the discrimination of four melanomas (three of them in situ), 26 BCCs and five dysplastic naevi from other pigmented skin lesions. The features and parameters previously described for dermoscopy were shown to be appropriate for the recognition of tumours in our patients with XP. Generalized actinic lentigos were distinguished from BCCs by the presence of a delicate brown pigmented network. Fine vessels from poikiloderma were differentiated from the arborizing telangiectasia of BCC. CONCLUSIONS: The dermoscopic findings in the tumours were similar to those previously described in patients not affected by XP. Diagnosis by dermoscopic pattern analyses allowed a correct classification of malignant tumours in these cases.     

Acceptability and influence of a complex personalized intervention on changes in photoprotection behaviours among people with xeroderma pigmentosum

Objectives

Rigorous photoprotection is the only means to prevent skin cancer in people with the rare condition of xeroderma pigmentosum (XP). We conducted a qualitative process evaluation of patient experiences and responses to a highly personalized, multi-component intervention, ‘XPAND’, designed to influence the psychosocial determinants of inadequate photoprotection among adults with XP.

Design

Qualitative study of 15 patients following participation in a RCT.

Methods

Semi-structured interviews explored acceptability, changes in photoprotection and attributions for behavioural changes. Analysis followed a framework approach.

Results

Participants were overwhelmingly positive in their views of the quality and range of components of XPAND and the relevance to their personal photoprotection barriers. All participants reported improved adherence to at least one photoprotection activity and nearly two-thirds of participants noted improvements across multiple activities. Participants believed improvements in their photoprotection behaviours were influenced by different change mechanisms. Sunscreen application, was mainly facilitated by habit formation, prompted by text messages, whereas the wearing of a photoprotective face buff was influenced by strategies, learnt during one-to-one sessions, to overcome worry about looking different. Enhancement of general self-confidence and perceived support from XPAND described by participants facilitated change more broadly.

Conclusions

Exploration of responses to XPAND is required in the international XP population, followed by adaptation and evaluation to see if it could benefit other patient groups at higher risk of skin cancer. Implications for approaches to behaviour change include the acceptability of complex multidimensional interventions, the importance of dynamic personalization and the interactive nature of behaviour change mechanisms.     

Xeroderma pigmentosum and rhabdoid tumor of the kidney: A very rare case report association

The aim of this observation was to report an exceptional association of xeroderma pigmentosum and rhabdoid renal tumor in a 7-year-old girl, diagnosed with imaging and treated by adjuvant chemotherapy.     

A novel XPA splice-site mutation identified in a 4-year-old Filipino girl with xeroderma pigmentosum

We herein report a case of a 4-year-old Filipino girl initially seen through online consultation from a general physician. She was born to a 22-year-old primigravid mother, with no birth complications nor a history of consanguinity in the family. During the 1st month of life, she developed hyperpigmented macules over the face, neck, upper back, and limbs, which were exacerbated by sun exposure. At 2 years old, she developed a solitary erythematous papule on the nasal area, which gradually enlarged within one year and developed into an exophytic ulcerating tumor extending to the right supra-alar crease. Xeroderma pigmentosum and squamous cell carcinoma were confirmed by whole-exome sequencing and skin biopsy, respectively.