Punctate Palmoplantar Keratoderma

A 5-year-old caucasian boy, born of non-consanguineous parents, was referred to the dermatology department due to palmar hiperlinearity and multiple 2-3 mm hyperkeratotic circular lesions in the soles (Fig. 1). The remaining physical examination was unremarkable. There was a family history of palmoplantar hyperkeratosis in the mother and maternal grandfather. To spare the child, a punch skin biopsy was taken from his mother. Pathology revealed an epidermis with irregular acanthosis and orthokeratotic hyperkeratosis, without other morphologic alterations (Fig. 2). Clinical aspect of the lesions associated with a positive family history and histologic findings allowed the diagnosis of punctate palmoplantar keratoderma. Satisfactory results were achieved with urea 20% cream and emollient applied to the soles. [...]

Mutational Analysis of a Novel Mutation (p.H232R) in the SRD5A2 Causing 46,XY Disorder of Sex Development

Background: Over 100 mutations in SRD5A2 gene have been identified in subjects with 46,XY DSD. Exploring SRD5A2 mutation and elucidating its molecular mechanism will find the domains function of 5α-reductase 2 enzyme and identify the cause of 46,XY DSD. Previously, we reported a novel compound heterozygous p.H232R/p.Q6X mutation of SRD5A2 gene in a case with 46,XY DSD. Whether the compound heterozygous p.Q6X/p.H232R mutation in SRD5A2 gene causes 46,XY DSD occurrence is needed to be further explored. Results: In order to clarify the cause of 46,XY DSD in the case’s family, SRD5A2 sequencing were performed. The heterozygous p.H232R mutation were identified in the case’s father, so we concluded that the heterozygous p.H232R mutation originated from paternal family and didn’t cause 46,XY DSD occurrence. The heterozygous p.Q6X mutation were identified in the case’s mother, maternal uncle and maternal grandfather, indicating that the heterozygous p.Q6X mutation descended from maternal family and didn’t cause 46,XY DSD occurrence. In order to clarify p.H232R mutation in SRD5A2 on DHT production, p.H232R mutant SRD5A2 plasmids were transfected with HEK293 cells and LC-MS detected that DHT production decreased compared with wild-type SRD5A2 infected ones.Conclusions: Our findings confirmed that the compound heterozygous p.Q6X/p.H232R mutation in SRD5A2 gene is the cause of 46,XY DSD. p.H232R mutation reduced DHT production while attenuated 5α-reductase 2 enzymatic catalytic efficiency.

The kinship through the female line in the inheritance of the possessions of the Moscow Rurikids in the 14th century

The paper studies the influence of the factor of possessions inheritance by Moscow knyazes in the female line in the 14th century, which was not typical for the Rurikids. There are certain difficulties in the history of possessions inheritance in Rus, since sources paid little attention to such facts. The problem has not received sufficient attention in the historical literature. The author explores various forms of such inheritance that took place during the period under review in the Moscow Principality starting from the will of Ivan Kalita. In some cases, it was about small possessions transfer under the power of the Moscow dynasty princes, in others - entire principalities that had their own independent history of several generations. The most obvious example is the succession through consanguinity including from maternal grandfather to grandson. In addition, childless widowed princesses also bequeathed their lands to their nephews. The history of the Moscow dynasty also has an unprecedented example of the transfer of a hereditary principality by a knyaz to his widow, which she was forced to transfer to her brother-in-law. A persistent trend for a long time gives such facts a certain historical significance.

Growing up Puritan

Chapter 1 chronicles the family background of Benjamin Franklin, whose English Protestant father, Josiah, emigrated from Northampton in England to Boston, Massachusetts, in 1683. The chapter describes Franklin’s childhood, including the Boston background of his maternal grandfather, Peter Folger, also an English emigré, and the influence of his uncle, Benjamin Franklin the elder. The chapter indicates the family’s religious affiliations, including their close associations with pastors Samuel Willard and Ebenezer Pemberton. Family friends included the parents of Charles Chauncey, whose adult convictions differed from those of Benjamin. The chapter explains how Josiah originally intended his youngest son to take up a career in the ministry, but came to understand that he lacked some of the requisite convictions. It relates how the search for alternative work in various trades led to an onerous apprenticeship in printing under his brother James. Ben learned about both the trade and himself—by his late teens, he realized that he needed other outlets for his independence of mind.

Grandchild’s IQ is associated with grandparental environments prior to the birth of the parents

Background. Despite convincing animal experiments demonstrating the potential for environmental exposures in one generation to have demonstrable effects generations later, there have been few relevant human studies. Those that have been undertaken have demonstrated associations, for example, between exposures such as nutrition and cigarette smoking in the grandparental generation and outcomes in grandchildren. We hypothesised that such transgenerational associations might be associated with the IQ of the grandchild, and that it would be likely that there would be differences in results between the sexes of the grandparents, parents, and children. Method. We used three-generational data from the Avon Longitudinal Study of Parents and Children (ALSPAC). We incorporated environmental factors concerning grandparents (F0) and focussed on three exposures that we hypothesised may have independent transgenerational associations with the IQ of the grandchildren (F2): (i) UK Gross Domestic Product (GDP) at grandparental birth year; (ii) whether grandfather smoked; and (iii) whether the grandmother smoked in the relevant pregnancy. Potential confounders were ages of grandparents when the relevant parent was born, ethnic background, education level and social class of each grandparent. Results. After adjustment, all three target exposures had specific associations with measures of IQ in the grandchild. Paternal grandfather smoking was associated with reduced total IQ at 15 years; maternal grandfather smoking with reduced performance IQ at 8 years and reduced total IQ at 15. Paternal grandmother smoking in pregnancy was associated with reduced performance IQ at 8, especially in grandsons. GDP at grandparents’ birth produced independent associations of reduced IQ with higher GDP; this was particularly true of paternal grandmothers. Conclusions. These results are complex and need to be tested in other datasets. They highlight the need to consider possible transgenerational associations in studying developmental variation in populations.

Family Life

This chapter gives an overview of the family life of Jonathan Edwards. It seeks to establish Edwards’s success as a patriarch in colonial New England according to Puritan standards. Beginning with his relationships with his father, Timothy Edwards, and his maternal grandfather, Solomon Stoddard, both pastors, this chapter traces the relational and familial dynamics throughout Edwards’s life. From a young age, Edwards sought to establish himself as a mature and godly man capable of heading a family. After moving to Northampton, Edwards married Sarah Pierpont at the age of 23 and began a family of his own. Together, they had eleven children and ran their household successfully. Edwards’s discipline, kindness, and faithful presence helped him to become a model Puritan patriarch. While Jonathan and Sarah’s lives were both cut short, they left a legacy of love and domestic flourishing behind them when they passed.

Apesar do silêncio: heranças da experiência da Shoá de Chaim Pomerancblum

This personal essay has a dual purpose of relating the transgenerational transmission of the Holocaust survivor Chaim Pomerancblum’s life story, and of reflecting, at the same time, on this non-canonical practice in the academic world regarding the use of first person narrative. First, I will discuss and explain this self-reflective approach by drawing on post-memorial literary and theoretical works. Next, I will narrate, in a fragmentary and metatextual way, the life story of Chaim, my maternal grandfather.

Liu Zongzhou

Liu Zongzhou 劉宗周 (personal name Xianzhang 憲章, courtesy name Qidong 起東, literary names Niantai 念台, Jishan 蕺山; b. 1578–d. 1645) was an important Neo-Confucian thinker in the late Ming dynasty (1368–1644) of China. Born as a posthumous child in Shanyin (Shaoxing) of the Zhejiang province, he was brought up by his mother, educated by his maternal grandfather and became a successful candidate of the metropolitan and palace examination in 1601. In 1621, as the Supplementary Secretary in the Ministry of Rites, he began to impeach the corrupt but powerful eunuch Wei Zongxian. In 1624, he declined the offer to be Junior Vice Commissioner of the Office of Transmission, and his status was reduced to that of a commoner. In 1629, he resumed office as the governor of Shuntian Prefecture, and resigned the next year to establish the Zhengren 證人 Association and to lecture at the Shigui 石匱 Academy. In 1636, he became Senior Vice Minister of Works. Yet he soon resigned to criticize the Senior Grand Secretary Wen Tiren 溫體仁, and this led to the degradation of his status to a commoner again. In 1642, he was promoted to Censor-in-chief, but he was relieved of his office when he antagonized the emperor by trying to save two censorial officials. During the fall of Beijing, he resumed his office as Censor-in-chief. He attacked the corrupt officials Ma Shiying 馬士英 and Ruan Dacheng 阮大鋮 and finally left his office. His official career lasted for forty-five years, during which he had held office six and a half years, was in active service at court only four years, and had been degraded to the status of commoner three times. With the fall of Nanjing and Hangzhou in succession to the Manchus and his decision to express his loyalty and patriotism to the country, he ended his life by fasting for twenty days. Liu distinguished himself as a Neo-Confucian philosopher and scholar. The main doctrines of his teaching are “vigilance in solitude” (shendu慎獨) and “sincerity of will” (chengyi誠意), which originate from the two Confucian classics Doctrine of the Mean and Great Learning. Huang Zongxi 黃宗羲 (b. 1610–d. 1695), his important disciple and a well-known intellectual historian, placed him and his school of thought in the last part of Huang’s influential work, The Records of Ming Scholars. Huang not only compared him to the most significant Neo-Confucian philosophers, but also hinted that his philosophy signified the final summation of the Neo-Confucian tradition from the Song to Ming dynasties. He is commonly regarded as one of the most important Song-Ming Neo-Confucian thinkers. It is the creativity and depth of his philosophy that deserves scholars’ attention.