Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force

Genetically determined myoclonus disorders are a result of a large number of genes. They have wide clinical variation and no systematic nomenclature. With next‐generation sequencing, genetic diagnostics require stringent criteria to associate genes and phenotype. To improve (future) classification and recognition of genetically determined movement disorders, the Movement Disorder Society Task Force for Nomenclature of Genetic Movement Disorders (2012) advocates and renews the naming system of locus symbols. Here, we propose a nomenclature for myoclonus syndromes and related disorders with myoclonic jerks (hyperekplexia and myoclonic epileptic encephalopathies) to guide clinicians in their diagnostic approach to patients with these disorders. Sixty‐seven genes were included in the nomenclature. They were divided into 3 subgroups: prominent myoclonus syndromes, 35 genes; prominent myoclonus syndromes combined with another prominent movement disorder, 9 genes; disorders that present usually with other phenotypes but can manifest as a prominent myoclonus syndrome, 23 genes. An additional movement disorder is seen in nearly all myoclonus syndromes: ataxia (n = 41), ataxia and dystonia (n = 6), and dystonia (n = 5). However, no additional movement disorders were seen in related disorders. Cognitive decline and epilepsy are present in the vast majority. The anatomical origin of myoclonus is known in 64% of genetic disorders: cortical (n = 34), noncortical areas (n = 8), and both (n = 1). Cortical myoclonus is commonly seen in association with ataxia, and noncortical myoclonus is often seen with myoclonus‐dystonia. This new nomenclature of myoclonus will guide diagnostic testing and phenotype classification. © 2019 The Authors. Movement Disorders published by Wiley Periodicals, Inc. on behalf of International Parkinson and Movement Disorder Society.     

Membrane-associated mucins of the ocular surface: New genes,new protein functions and new biological roles in human and mouse

The mucosal glycocalyx of the ocular surface constitutes the point of interaction between the tear film and the apical epithelial cells. Membrane-associated mucins (MAMs) are the defining molecules of the glycocalyx in all mucosal epithelia. Long recognized for their biophysical properties of hydration, lubrication, anti-adhesion and repulsion, MAMs maintain the wet ocular surface, lubricate the blink, stabilize the tear film and create a physical barrier to the outside world. However, it is increasingly appreciated that MAMs also function as cell surface receptors that transduce information from the outside to the inside of the cell. A number of excellent review articles have provided perspective on the field as it has progressed since 1987, when molecular cloning of the first MAM was reported. The current article provides an update for the ocular surface, placing it into the broad context of findings made in other organ systems, and including new genes, new protein functions and new biological roles. We discuss the epithelial tissue-equivalent with mucosal differentiation, the key model system making these advances possible. In addition, we make the first systematic comparison of MAMs in human and mouse, establishing the basis for using knockout mice for investigations with the complexity of an in vivo system. Lastly, we discuss findings from human genetics/genomics, which are providing clues to new MAM roles previously unimagined. Taken together, this information allows us to generate hypotheses for the next stage of investigation to expand our knowledge of MAM function in intracellular signaling and roles unique to the ocular surface.     

医学寄生虫学名议

医学寄生虫学名在医学寄生虫学教学、科研论文撰写及学术交流中经常使用。本文通过阐释医学寄生虫学名的由来、命名原则、某些术语的变化规则和在英语语境中的含义,旨在促进对医学寄生虫学名及相关问题的理解。     

The pathophysiology and therapy of menopausal symptoms

Menopause is generally experienced as a biopsychosocial process involving physiological changes, and influenced by a wide range of psychological, social and cultural factors. The loss of ovarian oestrogen production may cause debilitating symptoms, including hot flushes, night sweats, sleep disturbance, vaginal dryness, dyspareunia, bladder dysfunction, loss of libido, and mood changes. Experience of the menopause transition varies widely between individuals, depending on the age of onset, personal health and wellbeing, social context, environment and culture.Hormone Replacement Therapy (HRT) remains the most effective treatment for the management of vasomotor symptoms and vaginal dryness, but has no proven role in the treatment of chronic diseases of ageing. Treatment should be individualized, and for most healthy women aged 50–59 years the risks of HRT are low. An understanding of the pathophysiology of menopausal symptoms and the risks and benefits of both hormonal and non-hormonal treatments assists in the individual management of patients.     

Getting comfortable with RH blood group system terminologies and databases

The RH blood group system is the most important protein blood group system. Due to the high interest, often discoveries occurred in parallel and different groups used different nomenclatures. ISBT overtook the task to create nomenclatures both for antigens and alleles. Nevertheless, knowledge of internet resources is important to find the way among these alleles. Both general resources such as RESPIRE and gnomAD, allele‐oriented resource such as bloodantigens, erythrogene and HGMDB as well as dedicated resources such as the RHCE allele listing and the Human RhesusBase are presented.     

Antenatal sonographic diagnosis of choledochal cyst: Case report and imaging review

In this report, we present the antenatal two‐ and three‐dimensional sonographic findings from a fetus with choledochal cyst as well as confirmatory postnatal MRI. A delayed diagnosis of choledochal cyst is common, leading to significant morbidity and mortality. Visualizing bile ducts entering a right upper quadrant cyst is pathognomonic, and early diagnosis can facilitate definitive treatment with Roux‐en‐Y hepaticojejunostomy. © 2014 Wiley Periodicals, Inc. J Clin Ultrasound 43 :581–583, 2015     

宫颈鳞状上皮内瘤变二级命名法的临床应用

目的探讨2013年WHO关于宫颈鳞状上皮内瘤变二级命名法的临床应用及相关问题。方法采用免疫组化技术检测p16、Ki-67蛋白在111例宫颈良性反应性病变（良性病变组）、81例CIN1、39例CIN2患者组织中的表达情况。并分析宫颈低级别及高级别鳞状上皮内瘤变二级命名法中,不同级别病变与p16、Ki-67蛋白表达的关系。结果 p16在良性病变、CIN1和CIN2组中的阳性表达率分别为18.92%、41.98%和64.10%,良性病变组与CIN1、CIN2组比较,差异均有统计学意义（P〈0.05）;Ki-67在良性病变、CIN1和CIN2组中的阳性表达率分别为32.43%、32.10%和69.23%,CIN2组与CIN1组、良性病变组比较,差异均有统计学意义（P均〈0.05）。p16和Ki-67蛋白联合检测：在良性病变、CIN1、CIN2组中,p16（＋）/Ki-67（＋）的表达率分别为11.71%、9.88%和43.59%,p16（＋）/Ki-67（-）的表达率分别为7.21%、32.10%和20.51%;p16（-）/Ki-67（＋）的表达率分别为20.72%、22.22%和25.64%;p16（-）/Ki-67（-）的表达率分别为60.36%、35.80%和10.26%。三组中p16阴性着色特点不同,Ki-67的阳性着色特点不同。结论 p16蛋白联合Ki-67可以很好地区分低级别和高级别宫颈鳞状上皮内瘤变,但其有赖于免疫组化判读标准的严格执行;同一级别不同的染色特点可能代表组织的不同生物学特性,但尚需大量的临床验证。