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1.
Arch Argent Pediatr ; : e202310254, 2024 Apr 18.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-38608007

RESUMO

Tinea capitis is a dermatophytosis, which is more common in children. It is caused by dermatophytes that vary according to the region; the most frequently isolated dermatophyte in our setting is Microsporum canis. Given its anthropophilic nature, its dissemination via interpersonal transmission and through the use of hair care tools is very common. In the course of the past year, an increase has been reported in the incidence of a pathogen that was very rare in our setting: Trichophyton tonsurans. Here we describe a retrospective study of cases of tinea capitis caused by Trichophyton tonsurans identified between September 2021 and March 2023 in the Department of Pediatric Dermatology at a general hospital of the City of Buenos Aires.


La tinea capitis es una dermatofitosis, más frecuente en niños. Está causada por hongos dermatofitos que varían según la región; el más frecuentemente aislado en nuestro medio es el Microsporum canis. Dado su carácter antropofílico, la transmisión por vía interpersonal y mediante el uso de instrumentos de cuidado capilar es muy habitual. En el transcurso del último año, se ha reportado un incremento en la incidencia de un patógeno que era muy poco habitual en nuestro medio: el Trichophyton tonsurans. Presentamos un estudio retrospectivo de los casos de tinea capitis por Trichophyton tonsurans identificados en el período comprendido entre septiembre de 2021 y marzo de 2023 en la Sección de Dermatología Infantil de un hospital general de la Ciudad Autónoma de Buenos Aires.

2.
Med Leg J ; 92(2): 96-98, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38441057

RESUMO

The authors examine the evolution of the role of resident doctors on cruise ships dating back to the Roman and Byzantine empires, then in the Middle ages. In the past surgery was rarely performed by doctors, but by barber-surgeons, who, with their razor skills, did everything from haircuts to amputations. More recently, as in the last century, the first royal decrees were issued, pillar by pillar, forming the regulatory basis governing health care on board Italian or foreign ships travelling to and from national ports.


Assuntos
Navios , Humanos , Navios/história , História do Século XIX , História do Século XX , História Antiga , História do Século XVIII , História Medieval , História do Século XVII , História do Século XVI , História do Século XV , Médicos/história
3.
Parasit Vectors ; 17(1): 102, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-38429820

RESUMO

BACKGROUND: The integration of molecular data from hosts, parasites, and microbiota can enhance our understanding of the complex biological interactions underlying the resistance of hosts to parasites. Haemonchus contortus, the predominant sheep gastrointestinal parasite species in the tropics, causes significant production and economic losses, which are further compounded by the diminishing efficiency of chemical control owing to anthelmintic resistance. Knowledge of how the host responds to infection and how the parasite, in combination with microbiota, modulates host immunity can guide selection decisions to breed animals with improved parasite resistance. This understanding will help refine management practices and advance the development of new therapeutics for long-term helminth control. METHODS: Eggs per gram (EPG) of feces were obtained from Morada Nova sheep subjected to two artificial infections with H. contortus and used as a proxy to select animals with high resistance or susceptibility for transcriptome sequencing (RNA-seq) of the abomasum and 50 K single-nucleotide genotyping. Additionally, RNA-seq data for H. contortus were generated, and amplicon sequence variants (ASV) were obtained using polymerase chain reaction amplification and sequencing of bacterial and archaeal 16S ribosomal RNA genes from sheep feces and rumen content. RESULTS: The heritability estimate for EPG was 0.12. GAST, GNLY, IL13, MGRN1, FGF14, and RORC genes and transcripts were differentially expressed between resistant and susceptible animals. A genome-wide association study identified regions on chromosomes 2 and 11 that harbor candidate genes for resistance, immune response, body weight, and adaptation. Trans-expression quantitative trait loci were found between significant variants and differentially expressed transcripts. Functional co-expression modules based on sheep genes and ASVs correlated with resistance to H. contortus, showing enrichment in pathways of response to bacteria, immune and inflammatory responses, and hub features of the Christensenellaceae, Bacteroides, and Methanobrevibacter genera; Prevotellaceae family; and Verrucomicrobiota phylum. In H. contortus, some mitochondrial, collagen-, and cuticle-related genes were expressed only in parasites isolated from susceptible sheep. CONCLUSIONS: The present study identified chromosome regions, genes, transcripts, and pathways involved in the elaborate interactions between the sheep host, its gastrointestinal microbiota, and the H. contortus parasite. These findings will assist in the development of animal selection strategies for parasite resistance and interdisciplinary approaches to control H. contortus infection in sheep.


Assuntos
Hemoncose , Haemonchus , Microbiota , Parasitos , Doenças dos Ovinos , Ovinos/genética , Animais , Parasitos/genética , Estudo de Associação Genômica Ampla , Multiômica , Fezes/parasitologia , Doenças dos Ovinos/parasitologia , Hemoncose/parasitologia , Contagem de Ovos de Parasitas
4.
Vaccines (Basel) ; 12(2)2024 Jan 31.
Artigo em Inglês | MEDLINE | ID: mdl-38400135

RESUMO

To achieve the World Health Organization's global Sustainable Development Goals, increased production of high-quality protein for human consumption is required while minimizing, ideally reducing, environmental impacts. One way to achieve these goals is to address losses within current livestock production systems. Infectious diseases are key limiters of edible protein production, affecting both quantity and quality. In addition, some of these diseases are zoonotic threats and potential contributors to the emergence of antimicrobial resistance. Vaccination has proven to be highly successful in controlling and even eliminating several livestock diseases of economic importance. However, many livestock diseases, both existing and emerging, have proven to be recalcitrant targets for conventional vaccination technologies. The threat posed by the COVID-19 pandemic resulted in unprecedented global investment in vaccine technologies to accelerate the development of safe and efficacious vaccines. While several vaccination platforms emerged as front runners to meet this challenge, the clear winner is mRNA-based vaccination. The challenge now is for livestock industries and relevant stakeholders to harness these rapid advances in vaccination to address key diseases affecting livestock production. This review examines the key features of mRNA vaccines, as this technology has the potential to control infectious diseases of importance to livestock production that have proven otherwise difficult to control using conventional approaches. This review focuses on the challenging diseases of ruminants due to their importance in global protein production. Overall, the current literature suggests that, while mRNA vaccines have the potential to address challenges in veterinary medicine, further developments are likely to be required for this promise to be realized for ruminant and other livestock species.

5.
J Med Case Rep ; 18(1): 4, 2024 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-38178270

RESUMO

BACKGROUND: Say-Barber-Biesecker-Young-Simpson (SBBYS) (OMIM #603736, Ohdo syndrome variant) is a rare type of severe blepharophimosis intellectual disability syndrome, which is generally characterized by a global developmental delay, distinctive facial features, and intellectual disability with multiple congenital anomalies, including skeletal involvement, missing, or underdeveloped kneecaps, and genital anomalies, in affected males. It has been shown that mutations in the KAT6B gene, which is a lysine acetyltransferase-encoding gene, have been associated with SBBYS syndrome. All the known variants are dominant de novo mutations that result in protein truncation. CASE PRESENTATION: A 14-year-old Iranian Azeri boy with an intellectual disability, distinct dysmorphic facial features such as open-mouth expression, sparse medial eyebrows, widely spaced upward-slanted eyes, epicanthal folds, broad nasal bridge, low-set ears, anteverted ears, short philtrum, hypertelorism, microphthalmia is presented in this case study. Cryptorchidism was reported. Neurologically, the patient presented with poor eye contact, hypotonia, and speech difficulties. In the skeletal X-ray, underdeveloped kneecaps with some new features were observed. CONCLUSION: We present the first case of SBBYS syndrome in association with some new anomaly features in the Iranian population. Based on this diagnosis, we could provide the patient with a suitable plan of management as well as appropriate genetic counseling for his family.


Assuntos
Blefarofimose , Deficiência Intelectual , Masculino , Humanos , Adolescente , Deficiência Intelectual/diagnóstico , Blefarofimose/genética , Blefarofimose/diagnóstico , Irã (Geográfico) , Mutação , Fenótipo , Histona Acetiltransferases/genética
6.
Pediatr Dermatol ; 41(2): 307-310, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37817291

RESUMO

Barber-Say syndrome (BSS) is a rare congenital ectodermal dysplasia with few cases reported in the literature. We describe a 9-year-old boy with congenital generalized hypertrichosis and multiple rhabdomyomatous mesenchymal hamartomas (RMHs) on his nose and periocular region. Next-generation sequencing, performed in DNA from a blood sample, and RMH tissue, revealed a pathogenic variant in the TWIST2 gene, which was not detected in a salivary sample of the patient, nor in his parents. Therefore, we consider this variant as de novo mosaicism. To our knowledge, this is the first case of multiple RMHs associated with BSS.


Assuntos
Anormalidades Múltiplas , Doenças Palpebrais , Hamartoma , Hipertelorismo , Hipertricose , Macrostomia , Anormalidades da Pele , Masculino , Humanos , Criança , Hipertricose/genética , Hipertricose/congênito , Anormalidades Múltiplas/genética , Hirsutismo/genética , Hamartoma/complicações , Hamartoma/diagnóstico , Hamartoma/genética
7.
J CME ; 12(1): 2269074, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37860222

RESUMO

Black individuals in the United States are less likely to use medication to prevent HIV (pre-exposure prophylaxis, or PrEP) than White individuals and are significantly more likely to receive a new HIV diagnosis. Because of America's long history of unethical medical and research practices and ongoing prejudice and bias, Black Americans have mistrust towards the medical community. This distrust, along with the social determinants of health, leads to low participation in health care. Health interventions at culturally "safe" and familiar venues are a popular strategy to engage Black Americans in health care. In the United States, barbershops are staples of the Black community and the utility of barbershops as a venue for delivering interventions has been successfully explored. We describe FADE OUT HIV, a program designed to increase barberknowledge of prevalence of HIV in the Black community; facilitatediscussions between Black barbers and their Black clients about HIVexposure, prevention, and treatment; provide free HIV tests forbarbers' clients; and educate community clinicians via live andenduring webcasts about HIV prevention and treatment. Clinician education was designed to facilitate HIV screening and ensure that the barber clients would be referred to clinicians who were knowledgeable about HIV. The learning objectives of the education were focused on barriers that prevent HIV screening and PrEP uptake and strategies to overcome these barriers, monitoring recommendations for people using PrEP, the benefits and limitations of new and in-development PrEP, and the importance of rapid initiation of antiretroviral therapy (ART). As a result of this programme, 308 HIV tests were administered to barber clients at hosted events in Los Angeles and clinician knowledge and competence increased by 33% and 34%, respectively.

8.
Trop Anim Health Prod ; 55(5): 317, 2023 Sep 22.
Artigo em Inglês | MEDLINE | ID: mdl-37737938

RESUMO

Haemonchus contortus (H. contortus) is one of the most prevalent gastrointestinal nematodes, causing health problems and economic losses in ruminants. Nanotechnology holds great promise as a field of science, with potential applications in veterinary medicine. This study investigated the in vitro anthelmintic activity of silver nanoparticles (AgNPs), selenium nanoparticles (SeNPs), and pomegranate peel extract (Punica granatum; PPE) on different stages of H. contortus: eggs, larvae, and adults. The in vitro anthelmintic efficacy was evaluated using the egg hatching inhibition assay (EHA), the third larval stage paralysis assay (LPA), and the adult worm motility inhibition assay (WMI). Six dilutions of PPE were utilized for EHA, LPA, and WMI, ranging from 0.25 to 6 mg/ml. AgNPs dilutions ranged from 0.00001 to 1.0 µg/ml for EHA and LPA and 1 to 25 µg/ml for WMI. SeNPs were utilized at dilutions of 1, 5, 10, and 15 µg/ml for EHA, LPA, and WMI. The results showed that the lowest concentration of AgNPs, SeNPs, and PPE significantly inhibited egg hatching. To further assess larvicidal activity, AgNPs at the highest concentration of 1 µg/ml induced a strong larvicidal effect, as did SeNPs at the lowest concentration. On the contrary, PPE displayed a significant larvicidal effect at 1 mg/ml compared to the control. The percentage mortality of adult H. contortus was measured as follows (mortality (%) = the number of dead adult H. contortus/total number of adult H. contortus per test × 100). The death of the adult H. contortus was determined by the absence of motility. Adult H. contortus mortality percentage was also significantly affected by all three agents when compared to the control. The AgNPs, SeNPs, and PPE have effective antiparasitic activity on gastrointestinal parasitic nematodes. These results provide evidence of the excellent antiparasitic properties of AgNPs, SeNPs, and PPE, demonstrating their effectiveness in controlling eggs, larvae, and adult H. contortus in vitro.


Assuntos
Anti-Helmínticos , Anti-Infecciosos , Haemonchus , Nanopartículas Metálicas , Punica granatum , Selênio , Animais , Antiparasitários , Selênio/farmacologia , Prata/farmacologia , Óvulo , Anti-Helmínticos/farmacologia , Anti-Helmínticos/uso terapêutico , Larva , Extratos Vegetais/farmacologia , Extratos Vegetais/uso terapêutico
10.
NTM ; 31(4): 357-385, 2023 12.
Artigo em Alemão | MEDLINE | ID: mdl-38175196

RESUMO

This paper presents and analyzes the practice journal of a barber-surgeon in the town of Münster, in Northern Germany, in which he recorded about 950 cases he treated between 1602 and 1614. Based on this source, it examines the clientele and the fees of a German barber-surgeon in the early seventeenth century, and looks at the injuries and complaints for which patients sought his treatment.


Assuntos
Cirurgiões Barbeiros , Cirurgia Geral , Humanos , Cirurgiões Barbeiros/história , População Europeia , Honorários e Preços , Cirurgia Geral/história , Alemanha , Registros , História do Século XVII
11.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wpr-969640

RESUMO

Background The presence of formaldehyde, ammonia, benzene, toluene, and xylene in indoor air of public places has been confirmed to cause health damage. The employees of barber and beauty shops are exposed to relatively enclosed space for a long time, and could surfer more serious health risks from indoor air chemical pollutants. Objective To analyze the concentrations of common indoor air chemical pollutants in barber shops and beauty salons in Liaocheng City, and explore potential health risks of the pollutants for employees. Methods Using a stratified randomized sampling method, 8 to 10 barber shops and 5 to 10 beauty salons were selected in the main urban area of Liaocheng City to conduct monitoring of the sanitary conditions of public places in winter and summer every year from 2016 to 2021; the indoor air concentrations of formaldehyde, ammonia, benzene, toluene, and xylene in the selected sites were measured, and a questionnaire survey was conducted to collect exposure characteristics of indoor pollutants. The concentration distributions of the five chemical pollutants were obtained from the monitoring data for 6 consecutive years, and the health risk assessment model recommended by the U.S. Environmental Protection Agency was used to perform health risk assessment of inhalation exposure. Results In 2016–2021, the median indoor air concentrations of formaldehyde, ammonia, benzene, toluene, and xylene in the two types of sites were lower than the limits of Hygienic Indicators and Limits for Public Places (GB 37488-2019), but the concentrations of some monitoring sites were higher than the limits. The disqualification rates of the five pollutants in the barber shops were 16.8%, 2.7%, 2.4%, 6.4%, and 12.0%, respectively. The disqualification rate of formaldehyde was the highest in all pollutants (22.0%), while the disqualification rates of ammonia, toluene, and xylene were 1.3%, 2.0%, and 2.0% in beauty salons respectively. Both formaldehyde and benzene were found to have carcinogenic risks (CR) in the two types of public places. Both median values of CR were greater than 1.0×10−6, and both maximum values were greater than 1.0×10−4. Formaldehyde had the highest non-carcinogenic risk in the indoor air of barber shops and beauty salons. The median non-carcinogenic hazard quotients (HQ) of formaldehyde were both greater than 1, and the maximum values were 16.72 and 12.19 times of the standard value; ammonia and toluene had the lowest non-carcinogenic risks, and their maximum values of HQ were less than 1; the median HQs of benzene and xylene were far less than 1, but their maximum risk values of barber shop were greater than 1. Conclusion For the sake of worker's health, formaldehyde and benzene should be the indoor air pollutant control priority for barber shops and beauty salons in Liaocheng; formaldehyde poses the most serious health hazard to practitioners and should be given high attention and necessary measures to reduce the hazard; benzene poses certain carcinogenic risks, with some of its highest values exceeding 10−4, which is higher than the recommended safety threshold.

12.
Mol Syndromol ; 13(3): 221-225, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35707592

RESUMO

Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and genitopatellar syndrome (GPS) are caused by variants of lysine acetyltransferase 6B (KAT6B). These variants tend to occur in the terminal exons of KAT6B. Here, we report a patient with global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, facial dysmorphism, and seizures caused by a novel missense variant in exon 7 of KAT6B. The patient showed a phenotype differing from those of SBBYSS and GPS. We also report patients with missense variants in the proximal exons of KAT6B showing dysmorphic features and autistic behavior not resembling the characteristics of SBBYSS and GPS. Missense variants in the proximal exons of KAT6B may have a dominant negative effect or cause gain of function, leading to unique phenotypes not resembling those of SBBYSS and GPS.

13.
Vet Parasitol ; 305: 109713, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35597694

RESUMO

Haemonchus contortus is the most important gastrointestinal nematode in small ruminant systems worldwide and has developed resistance to several drugs, including ivermectin (IVM). IVM is not only a veterinary drug but also a safe, broad-spectrum, antiparasitic drug used in humans. One of the main IVM-resistance mechanisms in H. contortus involves P-glycoprotein (PgP), a trans-membrane transport protein that rids worm cells from toxic molecules. This study aimed to evaluate the anthelmintic activity of IVM, alone or combined with main terpenes of essential oils (alpha-terpinene, beta-citronellol, beta-pinene, citronellal, limonene, menthol, and terpinolene) and with phenolic compounds (epicatechin, epigallocatechin, gallocatechin, pentagalloylglucose, procyanidin, and quercetin). All compounds were tested, alone or combined with IVM, against susceptible (HcS) and resistant (HcR) isolates of H. contortus through the larval development test (LDT) and the adult motility assay (AMT) using verapamil (VP), a known PgP modulator, as a control. Results for the LDT determined that the lethal concentration required to kill 50% of nematodes (LC50) with IVM was 10 times greater (0.01 µg/mL) for HcR than for HcS (0.001 µg/mL). The combination IVM + VP inhibited the activity of PgP in HcR resulting in a LC50 = 0.002 ug.mL-1. Although limonene was the least effective and alpha-terpinene the most effective terpene when tested alone against HcR, the best combinations were IVM + limonene and IVM + quercetin both produced LC50 = 0.002 µg/mL (similar to IVM+VP) which were chosen for subsequent tests. Because adult parasites are the final target for anthelmintics, IVM was evaluated in HcS (LC50 = 0.067 µg/mL) and HcR (LC50 =164.94 µg/mL) through the AMT. Results obtained with IVM + VP (LC50 = 0.020 µg/mL) in HcR were similar to IVM + limonene (LC50 = 0.028 µg/mL) and outperformed IVM + quercetin (LC50 = 1.39 µg/mL). RNA extracts from HcR adult worms exposed to IVM, IVM+VP, and IVM + limonene were evaluated for PgP expression by RT-PCR. For most concentrations, PgP-9 was significantly more expressed in worms treated with IVM alone than in worms treated with IVM + VP or IVM + limonene. Our results suggest that limonene is involved in the modulation of the PgP-9 gene and that it can restore the activity of IVM in the HcR isolate down to levels seen in HcS. Limonene is one of the main compounds found in citrus peel and has the potential to be both safe and affordable if used in combination with IVM to restore its anthelmintic effects against multi-drug-resistant H. contortus isolates. Our results also suggest that we may be more successful by combining natural products with failing commercial anthelmintics than trying to find natural substitutes for them.


Assuntos
Anti-Helmínticos , Haemonchus , Subfamília B de Transportador de Cassetes de Ligação de ATP/genética , Membro 1 da Subfamília B de Cassetes de Ligação de ATP/genética , Animais , Anti-Helmínticos/farmacologia , Anti-Helmínticos/uso terapêutico , Resistência a Medicamentos/genética , Expressão Gênica , Ivermectina/farmacologia , Ivermectina/uso terapêutico , Limoneno/farmacologia , Compostos Fitoquímicos/farmacologia , Quercetina/farmacologia
14.
Int J Dermatol ; 61(11): 1405-1408, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-35304753

RESUMO

BACKGROUND: Hairdressers and barbers are among the top occupations to develop occupationally related nickel allergy. While nickel release has previously been detected in metal items in the hairdressing trade, metal items in the barber trade have not been specifically tested. This study screened for nickel release from metal tools in United States barber trade. METHODS: One hundred ninety-two metal tools from 12 barbershops in St. Paul, Minnesota, were tested with dimethylglyoxime test. An employee survey was conducted about each metal tool. RESULTS: Nickel release was detected in 10 of 192 metal tools (5.2%). Items with nickel release included one of 57 scissors (1.7%), one of 32 trimmers (3.1%), four of 13 barbershop chairs (30.8%), three of six cape clips, and one of one nail clippers. CONCLUSIONS: Nickel release was detected in items unique to the barber trade. These items should be considered when preventing and assessing occupational nickel allergy in barbers.


Assuntos
Dermatite Alérgica de Contato , Níquel , Dermatite Alérgica de Contato/diagnóstico , Dermatite Alérgica de Contato/etiologia , Humanos , Minnesota , Níquel/efeitos adversos , Ocupações , Inquéritos e Questionários , Estados Unidos
15.
Acta sci., Health sci ; 44: e56401, Jan. 14, 2022.
Artigo em Inglês | LILACS | ID: biblio-1367453

RESUMO

Blood-borne viruses, includingthe human immunodeficiency virus and hepatitis B virus, have certain common epidemiological characteristics and these viruses infect millions of people worldwide. This study aimed to determine the job satisfaction and the level of knowledge and practices regarding infectious diseases of employees working as hairdressers and barbers.This descriptive and cross-sectional study comprised 1200 hairdressers and barbers. The study sample comprised 628 people who consented to participate in the study. The mean age of the participants who participated in the study was 28, 13 ± 6. 9 years. The mean job satisfaction score of the participants was 3.85 ± 0.58. The job satisfaction score was found to be higher among those with sufficient knowledge of hepatitis B (p < 0.005). Employees should be provided performance trainings to achieve job satisfaction. It is recommended that employees be encouraged to wear gloves and gowns to protect their health and prevent contamination.


Assuntos
Humanos , Masculino , Feminino , Adulto , Barbearia/instrumentação , HIV , Conhecimento , Centros de Embelezamento e Estética , Hepatite B/epidemiologia , Hepatite B/virologia , Vírus da Hepatite B , Doenças Transmissíveis/transmissão , Doenças Transmissíveis/epidemiologia , Saúde Ocupacional/etnologia , Síndrome da Imunodeficiência Adquirida/epidemiologia , Síndrome da Imunodeficiência Adquirida/virologia , Equipamento de Proteção Individual/provisão & distribuição , Equipamento de Proteção Individual/virologia , Satisfação no Emprego , Categorias de Trabalhadores
16.
Orbit ; 41(6): 779-782, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34092176

RESUMO

Ablepharon-macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are congenital ectodermal dysplasias associated with mutations in the TWIST2 gene. Among the ophthalmic anomalies that occur in these syndromes, underdevelopment of the anterior lamella of the eyelid is a defining feature. Reports of mosaic expression of TWIST2 mutations are extremely rare, with only five confirmed or suspected cases described to date. Mosaic expression of TWIST2 variants is correlated with a less severe phenotype than that reported for the typical expression of TWIST2 variants associated with BSS or AMS. Abnormal development of the anterior lamella appears to be a common feature in all cases of AMS with mosaic expression. Here, we describe the phenotype of a patient with mosaic expression of a TWIST2 mutation that is typically associated with AMS. We additionally describe the surgical approach employed in the treatment of this patient.


Assuntos
Macrostomia , Humanos , Macrostomia/complicações , Macrostomia/genética , Macrostomia/cirurgia , Mutação , Fenótipo , Proteínas Repressoras/genética , Proteína 1 Relacionada a Twist/genética
17.
Mol Genet Genomic Med ; 9(10): e1809, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34519438

RESUMO

The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say-Barber-Biesecker-Young-Simpson Syndrome and Genitopatellar Syndrome. Here we present 20 new cases representing 10 novel KAT6B variants. These patients exhibit a range of clinical phenotypes including intellectual disability, mobility and language difficulties, craniofacial dysmorphology, and skeletal anomalies. Given the range of features previously described for KAT6B-related syndromes, we have identified additional phenotypes including concern for keratoconus, sensitivity to light or noise, recurring infections, and fractures in greater numbers than previously reported. We surveyed clinicians to qualitatively assess the ways families engage with genetic counselors upon diagnosis. We found that 56% (10/18) of individuals receive diagnoses before the age of 2 years (median age = 1.96 years), making it challenging to address future complications with limited accessible information and vast phenotypic severity. We used CRISPR to introduce truncating variants into the KAT6B gene in model cell lines and performed chromatin accessibility and transcriptome sequencing to identify key dysregulated pathways. This study expands the clinical spectrum and addresses the challenges to management and genetic counseling for patients with KAT6B-related disorders.


Assuntos
Estudos de Associação Genética , Predisposição Genética para Doença , Histona Acetiltransferases/genética , Mutação , Fenótipo , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Alelos , Blefarofimose/diagnóstico , Blefarofimose/genética , Estudos de Coortes , Hipotireoidismo Congênito/diagnóstico , Hipotireoidismo Congênito/genética , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Fácies , Aconselhamento Genético , Loci Gênicos , Genótipo , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Instabilidade Articular/diagnóstico , Instabilidade Articular/genética , Rim/anormalidades , Masculino , Patela/anormalidades , Transtornos Psicomotores/diagnóstico , Transtornos Psicomotores/genética , Escroto/anormalidades , Anormalidades Urogenitais/diagnóstico , Anormalidades Urogenitais/genética
18.
Access Microbiol ; 3(5): 000229, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34151181

RESUMO

Given the importance of disinfecting showerheads from Legionella species and the lack of instructions as to how to successfully achieve this, the aim of this study was to examine the ability of domestic steam disinfection to successfully disinfect showerheads from Legionella species. Steam disinfection of Legionella pneumophila [n=3; L. pneumophila serogroup 2-15 (wildtype environmental water isolate); L. pneumophila serogroup 1 NCTC11192 (reference strain); L. pneumophila serogroup 1 (wildtype environmental water isolate)], L. erythra (wildtype environmental water isolate) and L. bozemanii CRM11368M (reference strain) were examined in this study. Steam disinfection employing a baby bottle steam disinfector device eradicated all Legionella organisms tested. Steam disinfection, when performed properly under the manufacturer's instructions, offers a relatively inexpensive, simple, versatile and widely available technology for the elimination of Legionella species from contaminated showerheads. We therefore advocate the employment of such devices to regularly disinfect showerheads and shower tubing in hairdressing salons, barber shops and gyms, as a critical control in the elimination of these organisms from these sources, thereby enhancing customer/client/staff safety.

19.
Saudi J Biol Sci ; 28(5): 2692-2694, 2021 May.
Artigo em Inglês | MEDLINE | ID: mdl-34025154

RESUMO

Barbershops provide areas for the growth and transfer of bacterial pathogens and thereby have an impact on public health. Barbershops are ideal places for the interactive spread of infections, including community-associated methicillin-resistant Staphylococcus aureus (CA-MRSA). Here, the work determines the degree of bacterial contamination of hair dryers used in barbershops. The samples were collected in the city of Riyadh, the Kingdom of Saudi Arabia on March 2019. Significant bacterial contamination was seen, with total bacterial count increasing when the hair dryers were run for 20 instead of 10 s. The study shows a high level of bacterial contamination barbershops using hair dryers, with MRSA being isolated in some. The results suggest that high quality filters should be used inside hair dryers and filters, and theses should be cleaned frequently.

20.
Rev. med. cine ; 17(2)6 May. 2021. ilus
Artigo em Espanhol | IBECS | ID: ibc-228647

RESUMO

En la Inglaterra del siglo XI, un huérfano de 8 años llegará a ser el aprendiz de un cirujano-barbero. Aprende las habilidades básicas de este oficio (sacar dientes, hacer sangrías y pequeñas cirugías) pero no es suficiente. Así que decidirá llegar a ser un médico. Para ello, viajará a Oriente Medio donde se encuentra la más famosa escuela de Medicina. En Persia, logrará entrar como alumno en la madrasa de Ibn Sina (Avicena) donde recibirá una formación teórica y práctica de la medicina, así como de otras disciplinas para lograr ser un médico. (AU)


England, XI century, an 8-year-old orphan becomes a surgeon-barber apprentice. Learning basic skills of this trade (pulling teeth, bloodletting and minor surgeries) but this is not enough. So he decides to become a physician travelling to Middle East, where the most famous medical school of the world was. In Persia, he will be able to enroll as student at Ibn Sina´s madrasa (Avicenna) where he will receive theoretical and practical training in medicine as well as other disciplines to become a physician. (AU)


Assuntos
Humanos , História Medieval , Cirurgiões Barbeiros/história , História da Medicina , Peste/história , Filmes Cinematográficos
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