This paper focuses on Mission Raquez, a French ethnographic expedition through Laos to collect material for the Marseille Colonial Exposition of 1906. This paper discusses the location of extant ...material and considers the ethnographic methods used on the mission in conjunction with anthropological study, mass media, and popular celebrity in turn of the century France.
Acylation of ghrelin is mediated by ghrelin
acyltansferase (GOAT). Exogenous acylated ghrelin (AG) stimulates growth hormone (GH) and food intake. In non-pregnant (NP) animals, the GOAT-ghrelin-GH ...axis prevents hypoglycemia caused by caloric restriction (CR). In humans, maternal malnutrition challenges glucose metabolism, which is a key determinant of fetal health. To clarify the role of AG and GH, we compared effects of CR on the GOAT-ghrelin-GH axis in pregnant (P) and NP mice. C57BL/6 wild type (WT) and GOAT knock-out (KO) P and NP mice were freely fed (FF) or subjected to 50% CR for one week. CR was started in P mice on Day 10.5 after conception. We measured body composition, blood glucose, plasma ghrelin and GH, stomach, hypothalamus and pituitary GOAT and ghrelin expression, and liver glycogen content and
expression. GOAT and AG were undetectable in KO. In NP mice, CR did not affect blood glucose (-1.3 mmol/l, p>0.05) in WT but was lowered (-1.8 mmol/l, p<0.0001) in KO. GH and
mRNA expression increased in WT but not in KO. In P mice, CR markedly lowered glucose (-2.7 mmol/l; p<0.0001) in WT and caused fatal hypoglycemia in KO, despite similarly elevated GH in WT and KO mice. KO animals are more prone to hypoglycemia than WT. GH, which is high in P animals, does not prevent hypoglycemia caused by CR during pregnancy. Our data suggest a specific role of AG in the regulation of gluconeogenesis to maintain euglycemia during pregnancy when energy availability is limited.
In a patient suspected clinically to have Weaver syndrome, we ruled out mutations in EZH2 and NSD1, then identified a previously undescribed de novo mutation in EZH2's partner protein EED. Both ...proteins are members of the Polycomb Repressive Complex 2 that maintains gene silencing. On the basis of the similarities of the patient's phenotype to Weaver syndrome, which is caused by de novo mutations in EZH2, and on other lines of evidence including mouse Eed hypomorphs, we characterize this mutation as probably pathogenic for a Weaver-like overgrowth syndrome. This is the first report of overgrowth and related phenotypes associated with a constitutional mutation in human EED.
Echinococcus is the smallest of the major tapeworms. Humans are incidental hosts who become infected by exposure to soil contaminated with ova from the feces of the canine definitive hosts. The major ...species are E. granulosus (cystic echinococcosis) and E. multilocularis (alveolar or sylvatic echinococcosis), both common worldwide but unusual and not reportable in the United States. Human disease is characterized by slowly growing visceral cystic masses often containing daughter cysts and hydatid sand. In nonendemic areas, the clinical evaluation includes imaging, serology, and surgery; metastatic tumor is a major consideration. The diagnosis depends on the morphologic recognition of scolices and hooklets, albeit degenerated, within the cyst or attached to the cyst wall. Highly suggestive cyst wall features are an acellular hyaline lining surrounded by focally calcific fibrous tissue and chronic inflammation. We report 7 patients encountered in the Chicago area (5 E. granulosus, 2 E. multilocularis) who presented with cystic masses affecting the liver, lung, soft tissue, and spleen. The initial diagnosis was established or suggested by intraoperative evaluation of cyst fluid or cyst wall histopathology. Organism parts were found in 5 cases; 1 patient had a hyalinized cyst wall with a positive IgG (enzyme-linked immunosorbent assay), and 1 had a positive Western blot and a 30-year history of treatment. Treatment included cyst resection, hepatic lobectomy, intraoperative cyst injection, and benzimidazole therapy. There was 1 death. In a nonendemic area, the awareness of the pathologist to the possibility of this disease will exclude a neoplasm and facilitate prompt antihelminthic treatment.
Highlights • A 24-year old male with six-months history of multiple swellings over his right Achilles tendon. • Multiple bony lumps found within the main substance of right Achilles tendon. • Plain ...radiographs showed seven discrete ossified deposits. • Surgical excision was carried out and the ossified deposits were shelled out. • Postoperatively, radiographs confirmed complete excision of all the lumps. • The patient had a complete resolution of his symptoms. Histology showed metaplastic ossification.
Seventy Ménière’s disease (MD) patients with spontaneous vertigo (100%), unilateral aural fullness (57.1%), tinnitus (78.6%), and subjective hearing loss (75.7%) self-recorded nystagmus during their ...episodes of vertigo using portable video oculography goggles. All demonstrated ictal spontaneous nystagmus, horizontal in 94.3% (
n
= 66) and vertical in 5.7% (
n
= 4), with a mean slow-phase velocity (SPV) of 42.8 ± 31.1°/s (range 5.3–160.1). Direction reversal of spontaneous horizontal nystagmus was captured in 58.6%, within the same episode in 34.3%, and over different days in 24.3%. In 18.6%, we observed ipsiversive then contraversive nystagmus, and in 12.9% contraversive to ipsiversive direction reversal. Ictal nystagmus SPV (42.8 ± 31.1°/s) was significantly faster than interictal (1.4 ± 3.1°/s,
p
< 0.001, CI 34.277–48.776). Compared to age-matched healthy controls, interictal video head impulse test gains in MD ears were significantly lower, cumulative and first saccade (S1) amplitudes were significantly larger, and S1 peak velocities were significantly faster (
p
= 0.038/0.019/0.008/ < 0.001, CI 0.002–0.071/0.130–1.444/0.138–0.909/14.614–41.506). Audiometry showed asymmetrically increased thresholds in 100% of MD ears (
n
= 70). Significant caloric, air-conducted (AC) cervical vestibular-evoked myogenic potential (VEMP), and AC ocular VEMP asymmetries were found in 61.4, 37.9, and 44.4% of patients (MD ear reduced). Transtympanic electrocochleography tested in 36 ears (23 patients) showed 81.8% of MD ears had a positive result for hydrops (either a summating potential at 1/2 kHz < − 6 µV, or an SP/AP ratio > 40%). Using ictal nystagmus findings of SPV > 12°/s, and a caloric canal paresis > 25%, we correctly separated a diagnosis MD from Vestibular Migraine with a sensitivity and specificity of 95.7% and 85.1% (CI 0.89–0.97).
Abstract
Background
Most epidemiological studies have not systematically identified or categorized risk factors for urinary incontinence (UI) in older men, despite a higher prevalence than in younger ...men. Considering the burden of UI, an understanding of risk factors can inform cost-effective prevention/treatment programs. This scoping review aimed to identify and categorise risk factors for UI in older men, identify gaps in the evidence, and opportunities for future research.
Methods
The Joanna Briggs Institute (JBI) method for scoping reviews guided the conduct and reporting of this review alongside the Preferred Reporting Items for Systematic Reviews and Meta-analyses extension for scoping reviews checklist. JBI’s Population, Concept, and Context approach framed the inclusion criteria (all evidence sources on UI risk factors that included older men 65 +). We employed JBI’s three-step search strategy, which included a limited initial search in Ovid MEDLINE, a detailed comprehensive database search, and a search of reference lists of included studies, Google Scholar and grey literature. There were no restrictions on language, study type, or publication date. Two independent reviewers screened, selected, and extracted eligible studies. Data were analyzed using descriptive statistics and qualitative content analysis.
Results
Forty-seven articles that met the inclusion criteria identified 98 risk factors across six categories. Behavioural risk factors, reported by only two studies, were the least investigated of all the categories, whereas medical factors/diseases were the most investigated. No genetic factors were documented. The top five risk factors were increasing age/advanced age (
n
= 12), Benign Prostatic Hyperplasia (
n
= 11), Diabetes Mellitus (
n
= 11), Detrusor overactivity (
n
= 10), limitation in physical function/ADL disability (
n
= 10), increased Body Mass Index (BMI)/overweight/obesity (
n
= 8), Dementia (
n
= 8), and Parkinson’s disease (
n
= 7).
Conclusion
There is a dearth of evidence to describe the role behavioural risk factors have in UI in older men. These factors may play a role in health promotion and disease prevention in this area.
Registration
A protocol detailing the methods was developed and published, and is registered in the Open Science Framework Feb 07 2023;
https://osf.io/xsrge/
.
Loss of muscle mass is a common manifestation of chronic disease. We find the canonical Wnt pathway to be activated in mesenchymal progenitors (MPs) from cancer-induced cachectic mouse muscle. Next, ...we induce β-catenin transcriptional activity in murine MPs. As a result, we observe expansion of MPs in the absence of tissue damage, as well as rapid loss of muscle mass. Because MPs are present throughout the organism, we use spatially restricted CRE activation and show that the induction of tissue-resident MP activation is sufficient to induce muscle atrophy. We further identify increased expression of stromal NOGGIN and ACTIVIN-A as key drivers of atrophic processes in myofibers, and we verify their expression by MPs in cachectic muscle. Finally, we show that blocking ACTIVIN-A rescues the mass loss phenotype triggered by β-catenin activation in MPs, confirming its key functional role and strengthening the rationale for targeting this pathway in chronic disease.
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•Canonical Wnt signaling is activated in cachectic muscle MPs•β-catenin transcriptional activity induces expansion of MPs without muscle injury•Activation of canonical Wnt signaling in muscle-resident MPs induces muscle atrophy•NOGGIN and ACTIVIN-A secreted by activated MPs are the main drivers of muscle atrophy
Kajabadi et al. identify the cell population and molecular signals (NOGGIN and ACTIVIN-A) that are responsible for inducing muscle atrophy, a progressive condition of muscle loss commonly seen in chronic pathologies such as cancer-associated cachexia. This finding may help to develop therapeutics aimed to ameliorate disease-induced muscle atrophy.
Chromatin remodeling is of crucial importance during brain development. Pathogenic alterations of several chromatin remodeling ATPases have been implicated in neurodevelopmental disorders. We ...describe an index case with a de novo missense mutation in CHD3, identified during whole genome sequencing of a cohort of children with rare speech disorders. To gain a comprehensive view of features associated with disruption of this gene, we use a genotype-driven approach, collecting and characterizing 35 individuals with de novo CHD3 mutations and overlapping phenotypes. Most mutations cluster within the ATPase/helicase domain of the encoded protein. Modeling their impact on the three-dimensional structure demonstrates disturbance of critical binding and interaction motifs. Experimental assays with six of the identified mutations show that a subset directly affects ATPase activity, and all but one yield alterations in chromatin remodeling. We implicate de novo CHD3 mutations in a syndrome characterized by intellectual disability, macrocephaly, and impaired speech and language.
Certain human traits such as neurodevelopmental disorders (NDs) and congenital anomalies (CAs) are believed to be primarily genetic in origin. However, even after whole-genome sequencing (WGS), a ...substantial fraction of such disorders remain unexplained. We hypothesize that some cases of ND-CA are caused by aberrant DNA methylation leading to dysregulated genome function. Comparing DNA methylation profiles from 489 individuals with ND-CAs against 1534 controls, we identify epivariations as a frequent occurrence in the human genome. De novo epivariations are significantly enriched in cases, while RNAseq analysis shows that epivariations often have an impact on gene expression comparable to loss-of-function mutations. Additionally, we detect and replicate an enrichment of rare sequence mutations overlapping CTCF binding sites close to epivariations, providing a rationale for interpreting non-coding variation. We propose that epivariations contribute to the pathogenesis of some patients with unexplained ND-CAs, and as such likely have diagnostic relevance.
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