光子嫩肤仪配合激光治疗皮肤光老化疗效的观察

目的 探讨光子嫩肤仪配合755nm激光治疗皮肤光老化的疗效。方法 根据皮肤光老化者的肤质及疗效调节治疗方案，光子及激光交替进行治疗，每例治疗5次或5次以上。在治疗前和完成疗程后，由主治医师和接受治疗者共同对疗效做出评价。结果 本组178例，经治疗皮肤光老化症状均有不同程度改善，其中以肤色、毛细血管扩张、皮肤质地改善最为明显。临床观察表明，只要选择合适参数及完成疗程，治疗效果明显。结论 光子嫩肤仪配合755nm激光治疗皮肤光老化，是改善光老化表现的有效方法，并且比其他有损伤性治疗发生的合并症少，安全有效。     

The problem of rickets in UK Asians

A large body of work relating to the occurrence of rickets in UK Asians is reviewed. Several theories of the aetiology of this condition are shown to be untenable: it is not exclusively a function of sunlight deprivation or of darker pigmentation; nor is it simply due to phytate-induced losses of calcium from the gut. Asian rickets, however, is associated with a high consumption of cereals, and experiments with rats have suggested a mechanism. In the absence of adequate vitamin D from sunlight, the low-calcium, high cereal intake of the UK Asian population may induce a state of mild secondary hyperparathyroidism which enhances the destruction of vitamin D and leads to a progressive reduction in vitamin D status and, ultimately, to the development of clinical rickets.     

Treatment of 116 cases of facial pigmented spots by auricular needle-embedding method

以耳穴子宫、神门、内分泌、肺为主穴,根据辨证选取配穴,埋针治疗面部色素斑患者116例,全部治愈.     

Associations of OCA2-HERC2 SNPs and haplotypes with human pigmentation characteristics in the Brazilian population

Panels composed of Single Nucleotide Polymorphisms (SNPs) in genes related to pigmentation, when associated with different phenotypes, may assist in predicting the physical appearance of an individual, being very useful in forensic caseworks. We evaluated the association of seven OCA2-HERC2 SNPs and haplotypes with pigmentation characteristics (eye, skin, hair and freckles) in the highly admixed and phenotypically heterogeneous Brazilian population. All the seven SNPs evaluated presented one allele associated with phenotypes from at least two pigmentation features and the alternative allele associated with the opposite phenotypes from the same trait. The genotypic associations followed the same pattern for all seven SNPs. Nine haplotypes were observed in our sample and eight were associated with at least two pigmentation traits. Such SNPs and haplotypes could be deemed as good predictors for the presence of freckles and for skin, eye and hair pigmentation in the Brazilian population.     

Case for diagnosis

Pigmentary demarcation lines are physiologically abrupt transition lines from areas of deeper pigmentation to less pigmented areas. They are most often seen in African and Japanese individuals and rarely observed in Caucasians. There are eight types of pigmentary demarcation lines. The one described here, type B, is restricted to women and is associated with pregnancy in non-black patients. This type of pigmentary demarcation line occurs in the posterior aspect of the legs, extending from the perineum to the ankle. Its distribution follows the Voigt''s lines, which define the distribution of peripheral nerves. Its pathogenesis remains unknown. Expectant treatment is used, and good results have been reported with the use of Q-switched Alexandrite laser.     

13例新生儿红斑狼疮的临床特征、皮损后遗表现

【摘要】 目的 探讨新生儿红斑狼疮（NLE）的皮损后遗表现，分析可能的相关因素。方法 回顾2016—2020年首都儿科研究所附属儿童医院皮肤科收集并长期随访的13例NLE，分析患儿及母亲临床特征、患儿皮损后遗表现。结果 13例皮损发病时间为出生后0 ~ 120 d，平均15 d，随访时间15 ~ 43个月，皮损形态主要为环状红斑、斑丘疹、鳞屑，皮损消退时间2 ~ 18个月（平均7.4个月）。6例皮损消退后出现色素异常表现，3例同时出现色素减退和色素沉着，2例仅有色素减退，1例仅有色素沉着，1例色素减退患儿在随访18个月后色素减退复色，未见毛细血管扩张以及萎缩或瘢痕。8例患儿母亲孕前无异常，4例患儿母亲抗ANA、抗SSA/Ro、抗SSB/La抗体均阳性。结论 NLE的皮肤受累可出现后遗皮肤表现，常见为色素异常，多数长期未消退，应注意患儿母亲可能存在的潜在性免疫系统异常。     

Haplotype distribution in a forensic full mtDNA genome database of admixed Southern Brazilians and its association with self-declared ancestry and pigmentation traits

Background:The advent of massively parallel sequencing (MPS) applications focused on the generation of forensic-quality full mitochondrial genome sequences led to a popularization of the technique on a global scale. However, the lack of forensic-graded population databases has refrained a wider adoption of full genome sequences as the industry standard, despite its better discrimination capacity of individual maternal lineages.Purpose:This work describes a forensic-oriented full mtDNA genome database comprised of 480 samples from a Southern Brazilian population.Methods:A collection of mitochondrial sequences were obtained from low-pass, full genome DNA sequencing results. The complete sample set was evaluated regarding haplotype composition and distribution. Summary statistics and forensic parameters were calculated and are presented for the database, with detailed information concerning the impact of removing genetic information in the form of specific variants or increasingly larger genomic regions. Interpopulational analysis comparing haplotypical diversity in Brazilian and 26 worldwide populations was also performed. The association between mitochondrial genetic variability and phenotypic diversity was also evaluated in populations, with self-declared ancestry and three distinct phenotypic pigmentation traits (eyes, skin and hair colors) as parameters.Results:The presented database can be used to evaluate mitochondrial-related genetic evidence, providing LR values of up to 20,465 for unobserved haplotypes. Haplotype distribution in Southern Brazil seems to be different than the remaining of the country, with a larger contribution of maternal lines with European origin. Despite association can be found between lighter and darker phenotypes or self-declared ancestry and haplotype distribution, prediction models cannot be reliably proposed due to the admixed nature of the Brazilian population.Conclusions:The proposed database provides a basis for statistical calculation and frequency estimation of full mitochondrial genomes, and can be part of an integrated, representative, national database comprising most of the genetic diversity of maternal lineages in the country.     

膝关节色素沉着绒毛结节性滑膜炎MRI表现

目的探讨膝关节色素沉着绒毛结节性滑膜炎的MRI表现,提高对该疾病的认识。方法对我院经手术病理证实的27例膝关节PVNS的MRI表现进行回顾性分析。结果 27例PVNS中,弥漫型者22例,局限型者5例。所有弥漫型PVNS患者均表现为滑膜呈绒毛状或结节状增厚,T1WI呈低信号,T2WI及PDW呈不均匀稍高信号,增强扫描滑膜明显强化。膝关节周围脂肪垫区、髌上囊及腘窝可见大小不等软组织结节影。增厚滑膜及结节内见条片状或点状异常信号影,T1WI呈低信号,T2WI呈低信号,无明显强化。9例伴有关节软骨及软骨下骨破坏。前后交叉韧带受累1例。所有患者见不同程度关节积液。局限型者表现为关节腔内单发的软组织肿块,伴关节积液。结论膝关节PVNS具有较特征的MRI表现,MRI是诊断PVNS的首选方法。     

Novel loss-of-function variant in DENND5A impedes melanosomal cargo transport and predisposes to familial cutaneous melanoma

PurposeMore than half of the familial cutaneous melanomas have unknown genetic predisposition. This study aims at characterizing a novel melanoma susceptibility gene.MethodsWe performed exome and targeted sequencing in melanoma-prone families without any known melanoma susceptibility genes. We analyzed the expression of candidate gene DENND5A in melanoma samples in relation to pigmentation and UV signature. Functional studies were carried out using microscopic approaches and zebrafish model.ResultsWe identified a novel DENND5A truncating variant that segregated with melanoma in a Swedish family and 2 additional rare DENND5A variants, 1 of which segregated with the disease in an American family. We found that DENND5A is significantly enriched in pigmented melanoma tissue. Our functional studies show that loss of DENND5A function leads to decrease in melanin content in vitro and pigmentation defects in vivo. Mechanistically, harboring the truncating variant or being suppressed leads to DENND5A losing its interaction with SNX1 and its ability to transport the SNX1-associated vesicles from melanosomes. Consequently, untethered SNX1-premelanosome protein and redundant tyrosinase are redirected to lysosomal degradation by default, causing decrease in melanin content.ConclusionOur findings provide evidence of a physiological role of DENND5A in the skin context and link its variants to melanoma susceptibility.