Acquired Immunodeficiency Syndrome in Children: Report of the Centers for Disease Control National Surveillance, 1982 to 1985

Since national surveillance for acquired immunodeficiency syndrome (AIDS) began in 1981, the Centers for Disease Control (CDC) has received reports of more than 20,000 cases of AIDS in the United States. As of December 31, 1985, 307 of these cases had been diagnosed in children younger than 13 years of age. The number of cases is increasing rapidly. The number of cases reported in 1985 more than doubled those reported in 1984. The major risk factors in children for acquiring infection with the causative agent, human immunodeficiency virus (HIV), were (1) having a mother known to be infected and/or at increased risk for infection and (2) receiving a transfusion of blood or blood products. Of the 307 children with AIDS, 73% were reported from one of four states: New York, New Jersey, Florida, and California. Most AIDS cases in children occur in black or Hispanic infants and toddlers. The estimated incubation period for AIDS in children has increased each surveillance year, with the longest incubation exceeding 7 years. The prognosis for children with AIDS is poor and infants less than 1 year of age have the shortest survival time following diagnosis. Continued national surveillance for AIDS is mandatory for establishing effective prevention programs to control the spread of the disease. The CDC encourages all health care personnel to report cases of AIDS to their public health departments

Monoallelic Variation in DHX9, the Gene Encoding the Dexh-Box Helicase DHX9, Underlies Neurodevelopment Disorders and Charcot-Marie-Tooth Disease

DExD/H-box RNA helicases (DDX/DHX) are encoded by a large paralogous gene family; in a subset of these human helicase genes, pathogenic variation causes neurodevelopmental disorder (NDD) traits and cancer. DHX9 encodes a BRCA1-interacting nuclear helicase regulating transcription, R-loops, and homologous recombination and exhibits the highest mutational constraint of all DDX/DHX paralogs but remains unassociated with disease traits in OMIM. Using exome sequencing and family-based rare-variant analyses, we identified 20 individuals with de novo, ultra-rare, heterozygous missense or loss-of-function (LoF) DHX9 variant alleles. Phenotypes ranged from NDDs to the distal symmetric polyneuropathy axonal Charcot-Marie-Tooth disease (CMT2). Quantitative Human Phenotype Ontology (HPO) analysis demonstrated genotype-phenotype correlations with LoF variants causing mild NDD phenotypes and nuclear localization signal (NLS) missense variants causing severe NDD. We investigated DHX9 variant-associated cellular phenotypes in human cell lines. Whereas wild-type DHX9 was restricted to the nucleus, NLS missense variants abnormally accumulated in the cytoplasm. Fibroblasts from an individual with an NLS variant also showed abnormal cytoplasmic DHX9 accumulation. CMT2-associated missense variants caused aberrant nucleolar DHX9 accumulation, a phenomenon previously associated with cellular stress. Two NDD-associated variants, p.Gly411Glu and p.Arg761Gln, altered DHX9 ATPase activity. The severe NDD-associated variant p.Arg141Gln did not affect DHX9 localization but instead increased R-loop levels and double-stranded DNA breaks. Dhx

Multi-country loss rates of honey bee colonies during winter 2016/2017 from the COLOSS survey

Publication history: Accepted - 5 March 2018; Published online - 8 May 2018.In this short note we present comparable loss rates of honey bee colonies during winter 2016/2017 from 27 European countries plus Algeria, Israel and Mexico, obtained with the COLOSS questionnaire. The 14,813 beekeepers providing valid loss data collectively wintered 425,762 colonies, and reported 21,887 (5.1%, 95% confidence interval 5.0–5.3%) colonies with unsolvable queen problems and 60,227 (14.1%, 95% CI 13.8–14.4%) dead colonies after winter. Additionally we asked for colonies lost due to natural disaster, which made up another 6,903 colonies (1.6%, 95% CI 1.5–1.7%). This results in an overall loss rate of 20.9% (95% CI 20.6–21.3%) of honey bee colonies during winter 2016/2017, with marked differences among countries. The overall analysis showed that small operations suffered higher losses than larger ones (p < 0.001). Overall migratory beekeeping had no significant effect on the risk of winter loss, though there was an effect in several countries. A table is presented giving detailed results from 30 countries. A map is also included, showing relative risk of colony winter loss at regional level.The authors are also grateful to various national funding sources for their support of some of the monitoring surveys [including, in the Republic of Serbia, MPNTR-RS, through grant number III46002]. The authors acknowledge the financial support by the University of Graz for open access publication

Design and baseline characteristics of the finerenone in reducing cardiovascular mortality and morbidity in diabetic kidney disease trial

Background: Among people with diabetes, those with kidney disease have exceptionally high rates of cardiovascular (CV) morbidity and mortality and progression of their underlying kidney disease. Finerenone is a novel, nonsteroidal, selective mineralocorticoid receptor antagonist that has shown to reduce albuminuria in type 2 diabetes (T2D) patients with chronic kidney disease (CKD) while revealing only a low risk of hyperkalemia. However, the effect of finerenone on CV and renal outcomes has not yet been investigated in long-term trials. Patients and Methods: The Finerenone in Reducing CV Mortality and Morbidity in Diabetic Kidney Disease (FIGARO-DKD) trial aims to assess the efficacy and safety of finerenone compared to placebo at reducing clinically important CV and renal outcomes in T2D patients with CKD. FIGARO-DKD is a randomized, double-blind, placebo-controlled, parallel-group, event-driven trial running in 47 countries with an expected duration of approximately 6 years. FIGARO-DKD randomized 7,437 patients with an estimated glomerular filtration rate >= 25 mL/min/1.73 m(2) and albuminuria (urinary albumin-to-creatinine ratio >= 30 to <= 5,000 mg/g). The study has at least 90% power to detect a 20% reduction in the risk of the primary outcome (overall two-sided significance level alpha = 0.05), the composite of time to first occurrence of CV death, nonfatal myocardial infarction, nonfatal stroke, or hospitalization for heart failure. Conclusions: FIGARO-DKD will determine whether an optimally treated cohort of T2D patients with CKD at high risk of CV and renal events will experience cardiorenal benefits with the addition of finerenone to their treatment regimen. Trial Registration: EudraCT number: 2015-000950-39; ClinicalTrials.gov identifier: NCT02545049

Pregnant Man: A Conversation

I\u27m a law professor who works on gender, sexuality, and culture in the international and comparative context. That\u27s my head working. In real life, my partner, Howard, and I have been engaged in having a baby together for several years, a project that came to fruition with the birth of our daughter Melina. Of course, such a project evokes intensely complex feelings and thoughts. Beyond a simple transposition of the personal onto the political, I feel so fortunate to have engaged in myriad conversations with a variety of friends and colleagues who think much more carefully about the family and different aspects of race, class, gender, and sexuality than I do. Fascinating conversations also arose with people who work in the less clearly related fields of administrative law, law and economics, public international law, international commercial law, and law and psychology. These conversations have reshaped my understanding of the boundaries among self, family, and society, and have given me a faith in our profession that, despite the hierarchies and occasional pettiness, we law professors are a warm and supportive bunch. As Howard and I awaited the birth of our child, I wrote down some of my thoughts on these conversations to memorialize them so that others could share them. Scholarship abounds on parenting and families: surrogacy, in-vitro fertilization and other reproductive technologies, gay parenting, the economics of families, and so on-studies which can and did inform our process. I wrote this short essay in the middle of our gestational surrogate\u27s pregnancy to remind myself of the many amazing theoretical discussions I\u27ve had over the past couple of years as my partner and I worked to become parents. At first, I was far too reluctant to attach to the fetus as if it were our baby, so much so that we referred to it as Cletus the Fetus, and then, at the suggestion of a friend (who noted that Cletus was a boy\u27s name), as Cledith or Cletus during the pregnancy. Now that I\u27m sitting five feet from our daughter Melina, I feel safer opening this chapter of our lives to others

Pregnant Man?: A Conversation

This Essay includes a first-person narrative of having a child through surrogacy, responses to that narrative by other law professors and the surrogate, and a concluding response and epilogue by the Author

Pregnant Man?: A Conversation

I\u27m a law professor who works on gender, sexuality, and culture in the international and comparative context. That\u27s my head working. In real life, my partner, Howard, and I have been engaged in having a baby together for several years, a project that came to fruition with the birth of our daughter Melina. Of course, such a project evokes intensely complex feelings and thoughts. Beyond a simple transposition of the personal onto the political, I feel so fortunate to have engaged in myriad conversations with a variety of friends and colleagues who think much more carefully about the family and different aspects of race, class, gender, and sexuality than I do. Fascinating conversations also arose with people who work in the less clearly related fields of administrative law, law and economics, public international law, international commercial law, and law and psychology. These conversations have reshaped my understanding of the boundaries among self, family, and society, and have given me a faith in our profession that, despite the hierarchies and occasional pettiness, we law professors are a warm and supportive bunch. As Howard and I awaited the birth of our child, I wrote down some of my thoughts on these conversations to memorialize them so that others could share them. Scholarship abounds on parenting and families: surrogacy, in-vitro fertilization and other reproductive technologies, gay parenting, the economics of families, and so on-studies which can and did inform our process. I wrote this short essay in the middle of our gestational surrogate\u27s pregnancy to remind myself of the many amazing theoretical discussions I\u27ve had over the past couple of years as my partner and I worked to become parents. At first, I was far too reluctant to attach to the fetus as if it were our baby, so much so that we referred to it as Cletus the Fetus, and then, at the suggestion of a friend (who noted that Cletus was a boy\u27s name), as Cledith or Cletus during the pregnancy. Now that I\u27m sitting five feet from our daughter Melina, I feel safer opening this chapter of our lives to others

Data from: Genome-wide association studies in dogs and humans identify ADAMTS20 as a risk variant for cleft lip and palate

Cleft lip with or without cleft palate (CL/P) is the most commonly occurring craniofacial birth defect. We provide insight into the genetic etiology of this birth defect by performing genome-wide association studies in two species: dogs and humans. In the dog, a genome-wide association study of 7 CL/P cases and 112 controls from the Nova Scotia Duck Tolling Retriever (NSDTR) breed identified a significantly associated region on canine chromosome 27 (unadjusted p=1.1 x 10-13; adjusted p= 2.2 x 10-3). Further analysis in NSDTR families and additional full sibling cases identified a 1.44 Mb homozygous haplotype (chromosome 27: 9.29 – 10.73 Mb) segregating with a more complex phenotype of cleft lip, cleft palate, and syndactyly (CLPS) in 13 cases. Whole-genome sequencing of 3 CLPS cases and 4 controls at 15X coverage led to the discovery of a frameshift mutation within ADAMTS20 (c.1360_1361delAA (p.Lys453Ilefs*3)), which segregated concordant with the phenotype. In a parallel study in humans, a family-based association analysis (DFAM) of 125 CL/P cases, 420 unaffected relatives, and 392 controls from a Guatemalan cohort, identified a suggestive association (rs10785430; p =2.67 x 10-6) with the same gene, ADAMTS20. Sequencing of cases from the Guatemalan cohort was unable to identify a causative mutation within the coding region of ADAMTS20, but four coding variants were found in additional cases of CL/P. In summary, this study provides genetic evidence for a role of ADAMTS20 in CL/P development in dogs and as a candidate gene for CL/P development in humans

UCD_2014.tped

PLINK tped format GWAS fil