manifestations

表现
  • 文章类型: Journal Article
    众所周知,人类免疫缺陷病毒/获得性免疫缺陷病毒(HIV/AIDS)是全球主要的公共卫生问题。另一方面,艾滋病毒/艾滋病与各种耳鼻咽喉科表现有关。另一方面,尽管在坦桑尼亚对HIV/AIDS患者的耳鼻咽喉科表现的研究有限,但自采用高效抗逆转录病毒疗法以来,耳鼻咽喉科表现的负担在全球范围内有所减轻.2022年11月至2023年3月,在达累斯萨拉姆的Ilala区进行了一项基于医院的描述性横断面研究,使用便利抽样技术招募了380名研究参与者。使用预先测试的半结构化问卷收集数据,并通过社会科学统计包(SPSS)版本23进行分析。在这项研究中招募的380名患者中,22例(5.8%)有耳鼻咽喉科表现。在0-9岁(23.1%)的年龄组中,大多数有耳鼻喉科表现的患者是男性(6.1%),其次是10-19岁(18.8%)。最常见的耳鼻咽喉科表现是过敏性鼻炎(22.7%)和外耳炎(22.7%),其次是听力损失(18.2%)。卡波西肉瘤(13.7%),扁桃体炎(9.1%),慢性化脓性中耳炎,(4.5%)鼻窦炎(4.5%)和腺样体肥大(4.5%)。外耳炎在男性中占主导地位(23.1%),而过敏性鼻炎在女性中占主导地位(33.3%)。同样,发现耳鼻咽喉科表现的发生与CD4计数(p值=0.001)和病毒载量(p值=0.000)显著相关.HIV/AIDS患者和接受高效抗逆转录病毒治疗的患者的耳鼻咽喉科表现较少。在受耳鼻咽喉科表现的影响方面,男性人数超过女性。过敏性鼻炎和外耳炎是最常见的耳鼻喉科表现,大多数耳鼻喉科表现的参与者的病毒载量大于100个拷贝,CD4计数小于200个细胞/mm3。
    Human immunodeficiency virus/Acquired immunodeficiency virus (HIV/AIDS) is well known to be a major public health problem globally. On the other hand, HIV/AIDS is associated with various otorhinolaryngological manifestations. On the other hand, there has been a global reduction in the burden of otorhinolaryngological manifestations since the introduction of highly active antiretroviral therapy though there are limited studies on otorhinolaryngological manifestations among HIV/AIDS patients in Tanzania. A hospital based descriptive cross-sectional study was conducted at Ilala District in Dar es Salaam from November 2022 to March 2023 where 380 study participants were recruited using convenience sampling technique. Data was collected using pre-tested semi-structured questionnaires and analysis was done by means of Statistical Package for Social Sciences (SPSS) version 23. Of all the 380 patients recruited in this study, 22 (5.8%) had otorhinolaryngological manifestations. Most of the patients with otorhinolaryngological manifestations were males (6.1%) in the age group 0-9 years (23.1%) followed by those aged 10-19 years (18.8%). The commonest otorhinolaryngological manifestations were allergic rhinitis (22.7%) and otitis externa (22.7%) followed by hearing loss (18.2%), Kaposi\'s sarcoma (13.7%), tonsillitis (9.1%), chronic suppurative otitis media, (4.5%) sinusitis (4.5%) and adenoid hypertrophy (4.5%). Otitis externa predominated in males (23.1%) while allergic rhinitis predominated in females (33.3%). Similarly, a significant association was found between the occurrence of otorhinolaryngological manifestations with CD4 counts (p-value = 0.001) and viral load (p-value = 0.000). Otorhinolaryngological manifestations among patients living with HIV/AIDS and on highly active antiretroviral therapy were less prevalent. Males outnumbered females in terms of being affected by otorhinolaryngological manifestations. Allergic rhinitis and otitis externa were the commonest otorhinolaryngological manifestations and most of participants with otorhinolaryngological manifestations had viral load of greater than 100 copies and CD4 counts of less than 200cells/mm3.
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  • 文章类型: Journal Article
    目的:探讨性别对临床特征的影响,预后,嗜酸性肉芽肿性多血管炎(EGPA)的治疗选择。
    方法:我们回顾性地纳入了170例EGPA住院患者,这些患者在2007年至2020年间在我院接受治疗。回顾了详细的临床数据。表现,预后,治疗,并比较了女性和男性患者的结局。使用Kaplan-Meier曲线计算累积生存率。
    结果:在此队列中,男女比例为1.4:1.男性患者肾脏受累更为常见,包括血清肌酐升高,蛋白尿>1g/24h。严重的胃肠道受累更常见于男性患者。女性患者的过敏持续时间较长,过敏性鼻炎和哮喘的比例较高。蛋白尿>1g/24h的性别差异,血清肌酐>150mmol/L,严重的胃肠道受累,年龄≤55岁的患者比年龄>55岁的患者更显著。总的来说,男性患者的伯明翰血管炎活动评分较高,诊断时评估的预后较差,1996年五因子得分=0的比例低于女性。关于治疗选择,男性患者使用甲泼尼龙脉冲和环磷酰胺的频率更高。性别之间的全因死亡率和累积生存率相当。
    结论:在这个中国EGPA队列中,男性和女性患者表现出不同的疾病表型。EGPA的男性患者在诊断时具有较高的疾病活动性,并且需要更积极的治疗以诱导缓解。
    To investigate the effect of sex on the clinical characteristics, prognoses, and therapeutic selection of eosinophilic granulomatosis with polyangiitis (EGPA).
    We retrospectively enrolled 170 hospitalized patients with EGPA who were managed at our hospital between 2007 and 2020. Detailed clinical data were reviewed. Manifestations, prognoses, treatments, and outcomes were compared between female and male patients. Cumulative survival rates were calculated using Kaplan-Meier curves.
    In this cohort, the male to female ratio was 1.4:1. Renal involvement was more frequent in male patients, including serum creatinine elevation, and proteinuria > 1 g/24 h. Severe gastrointestinal (GI) involvement occurred more commonly in male patients. Female patients had longer allergy duration and higher ratios of allergic rhinitis and asthma. Sex differences in proteinuria > 1 g/24 h, serum creatinine > 150 mmol/L, severe GI involvement, and weight loss were more significant in patients aged ≤ 55 years than those in patients aged > 55 years. Overall, male patients had a higher Birmingham Vasculitis Activity Score and a worse prognosis assessed at diagnosis, with a lower proportion of 1996 Five Factor Score = 0 than females. Regarding treatment selection, methylprednisolone pulse and cyclophosphamide were administered more frequently to male patients. All-cause mortality and cumulative survival rates were comparable between the sexes.
    In this Chinese EGPA cohort, male and female patients showed distinct disease phenotypes. Male patients with EGPA had a higher disease activity at diagnosis and required more aggressive treatment for remission induction.
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  • 文章类型: Journal Article
    UNASSIGNED: Breast cancer diagnosis and treatment have been shown in studies to have a negative impact on patients\' physical, psychological, and social well-being, as well as overall quality of life. Psychologically, it\'s linked to sadness, anxiety, and demoralisation. Stigma contributes to the hidden burden of breast cancer as a chronic illness. Research on the elements that breast cancer survivors encounter as influences on stigma associated to the disease is lacking. Based on the lived experiences of breast cancer survivors, this study sought to investigate the factors that lead to the manifestations of both self- and public breast cancer stigma.
    UNASSIGNED: Individual semi-structured interviews with 24 patients diagnosed with breast cancer were performed, followed by five focus groups with 25 patients diagnosed with breast cancer. Interviews were verbatim transcribed and analysed using thematic framework analysis.
    UNASSIGNED: Two major themes have emerged from the data: a) Breast cancer stigma among breast cancer survivors, highlighting the various manifestations of stigma and the variables that influence them; including disease-related factors, patients\' views of cancer, public perceptions of breast cancer, family and interpersonal dynamics, and b) Stigma resilience and empowerment, emphasising the necessity of sociocultural transformation and coping strategies to preserve resilience.
    UNASSIGNED: To improve the well-being of breast cancer survivors, practitioners and health policymakers should be aware of the breast cancer stigma that underpins patients\' emotional and behavioural outlooks and its potential consequences on patients\' quality of life. They need to develop interventions to address the different stages of cancer stigma taking into consideration sociocultural influences, norms, and beliefs.
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  • 文章类型: Journal Article
    背景:先天性耳道闭锁(CAA)患者可伴有颞下颌关节(TMJ)逆行,暗示即使Jahrsdoerfer得分很高,不能进行耳道成形术和鼓室成形术。因此,本研究旨在总结这一罕见实体的临床表现并分享我们的诊断和治疗经验,以前没有描述过。
    方法:纳入30例(30耳)无颌面部发育不良的CAA和TMJ逆行患者。诊断基于患者病史,体检,纯音平均测试结果,颞骨高分辨率计算机断层扫描(HRCT)的发现。还记录了他们的Jahrsdoerfer得分和干预措施。
    结果:30名患者中有24名和6名患者(男性,n=15)在右侧和左侧进行了CAA和TMJ逆行,分别。十七个耳朵的耳廓正常;大多数人的耳廓扩大,耳屏大。十二只耳朵有一个附属耳廓,两个有耳前瘘管.所有的外耳道都有完全闭锁,包括四个浅凹的和四个在腔内有小孔的。颞骨HRCT显示患病耳的鼓室颞骨不良或不发育,外耳道闭锁,和部分/完全占据下颌髁突,有或没有软组织。Jahrsdoerfer的平均得分为8.17。13名患者选择了不同的手术,三个人戴着骨传导助听器,十四人选择不干预。
    结论:伴随TMJ逆行的CAA通常是单侧的,通常在右边。大多数患者耳廓正常,有一个扩大的耳廓腔和一个大的耳屏(“镜子耳朵”)。即使Jahrsdoerfer得分很高,传统的听力重建手术无法进行。患者可以接受VibrantSoundbridge或Bonebridge植入或佩戴骨传导助听器以提高听力水平,或因轻度听力损失而拒绝干预。TMJ位置可用作术前评估的Jahrsdoerfer分级系统补充。
    BACKGROUND: Patients with congenital aural atresia (CAA) can present with concomitant temporomandibular joint (TMJ) retroposition, implying that even with a high Jahrsdoerfer score, canaloplasty and tympanoplasty cannot be performed. Therefore, this study aimed to summarize the clinical manifestations and share our diagnostic and treatment experience of this rare entity, which has not been described previously.
    METHODS: Thirty patients (30 ears) with CAA and TMJ retroposition without maxillofacial dysplasia were included. Diagnosis was based on patient history, physical examination, pure-tone average test results, and temporal bone high-resolution computed tomography (HRCT) findings. Their Jahrsdoerfer scores and interventions were also recorded.
    RESULTS: Twenty-four and six patients among the 30 patients (males, n = 15) had CAA and TMJ retroposition on the right and left sides, respectively. Seventeen ears had a normal auricle; most had an enlarged cavum conchae and a large tragus. Twelve ears had an accessory auricle, and two had a preauricular fistula. All external auditory canals had complete atresia, including four with a shallow concavity and four with a small orifice in the cavum conchae. Temporal bone HRCT revealed poor or undeveloped tympanic temporal bone in the diseased ears, atresia in the external auditory canals, and partial/complete occupation of the mandibular condyle with or without soft tissue. The average Jahrsdoerfer score was 8.17. Thirteen patients opted for different surgeries, three wore a bone-conduction hearing aid, and fourteen chose no intervention.
    CONCLUSIONS: CAA with TMJ retroposition was often unilateral, typically on the right side. Most patients had normal auricles, with an enlarged cavum conchae and a large tragus (\"mirror ear\"). Even with a high Jahrsdoerfer score, traditional hearing reconstruction surgery could not be performed. Patients can undergo Vibrant Soundbridge or Bonebridge implantation or wear bone-conduction hearing aids to improve hearing levels, or refuse intervention because of mild hearing loss. The TMJ location can be used as a Jahrsdoerfer Grading System supplement for preoperative evaluation.
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  • 文章类型: Journal Article
    多囊卵巢综合征(PCOS)是一个全球性的健康问题,与育龄期的高发病率相关。在非洲,只有少数已发表的研究涉及该疾病的临床表现和表型表现,包括苏丹。因此,本研究旨在评估苏丹不育女性中不同PCOS表型的临床和生化表现.
    横截面,描述性研究于2019年1月至12月进行.从喀土穆的生育中心招募了368名患有PCOS的不育妇女(根据鹿特丹标准),苏丹。临床,荷尔蒙,并对PCOS4种表型的超声特征进行了描述和比较。
    大多数(321[87.2%])的女性患有少排卵/无排卵(OA)。236例(64.1%)女性超声检查出现多囊卵巢形态,171名(46.5%)女性痤疮,81名(22.0%)女性黑棘皮病,101名(27.4%)女性多毛症。D型在苏丹不孕妇女中最为普遍(51.6%),其次是表型B(22.6%),表型C(18.2%),和表型A(7.6%)。四种表型之间的体重指数和激素谱没有统计学差异。A型女性年龄较大,平均血压较高,在D型女性中观察到更高的腰臀比。
    与PCOS表型的全球分布不同,苏丹妇女独特地表达了表型D为最普遍的。由于地理原因,该地区需要更多的流行病学研究,民族,和遗传变异。
    多囊卵巢综合征(PCOS)是一个全球性的健康问题,与生殖生活中的重大缺陷有关。在非洲(包括苏丹)很少进行有关该疾病的临床表现和表型表现的研究。因此,我们旨在评估苏丹不育女性中不同PCOS表型的临床和生化表现.喀土穆生育中心共有368名PCOS不孕妇女,苏丹,参与研究。临床,荷尔蒙,描述并比较PCOS的四个表型组之间的超声特征。在这方面,苏丹妇女独特地表达了表型D作为最普遍的,这与PCOS表型的全球分布不匹配。此外,A型女性年龄较大,平均血压较高,并且在表型为D的女性中观察到更高的腰/臀比。由于地理原因,该地区需要更多关于这一主题的流行病学研究,民族,和遗传变异。
    Polycystic ovary syndrome (PCOS) is a global health problem associated with significant morbidity during reproductive age. Only a few published studies that address the clinical manifestations and phenotypic presentation of the disease have been conducted in Africa, including Sudan. Thus, this study aimed to evaluate the clinical and biochemical presentation of the different PCOS phenotypes among infertile Sudanese women.
    A cross-sectional, descriptive study was conducted from January to December 2019. A total of 368 infertile women with PCOS (based on the Rotterdam criteria) were recruited from a fertility center in Khartoum, Sudan. Clinical, hormonal, and ultrasonographic characteristics were described and compared between the four phenotypes of PCOS.
    Majority (321 [87.2%]) of the women had oligo/anovulation (OA). Polycystic ovary morphology on ultrasound appeared in 236 (64.1%) women, acne in 171 (46.5%) women, acanthosis nigricans in 81 (22.0%) women, and hirsutism in 101 (27.4%) women. Phenotype D was the most prevalent among infertile Sudanese women (51.6%), followed by phenotype B (22.6%), phenotype C (18.2%), and phenotype A (7.6%). No statistical differences in the body mass index and hormonal profile between the four phenotypes were noted. Women with phenotype A were older and had high mean blood pressure, and a higher waist/hip ratio was observed among women with phenotype D.
    Unlike the global distribution of PCOS phenotypes, Sudanese women uniquely expressed phenotype D as the most prevalent. More epidemiological studies are needed in the region due to geographical, ethnic, and genetic variations.
    Polycystic ovary syndrome (PCOS) is a global health problem associated with significant drawbacks during reproductive life. Few published studies have been conducted in Africa (including Sudan) addressing the clinical manifestations and phenotypic presentation of the disease. Therefore, we aimed to evaluate the clinical and biochemical presentation of the different PCOS phenotypes among infertile Sudanese women. A total of 368 infertile women with PCOS from a fertility center in Khartoum, Sudan, participated in the study. Clinical, hormonal, and ultrasonographic characteristics were described and compared between the four phenotype groups of PCOS. In this regard, Sudanese women uniquely expressed phenotype D as the most prevalent, and this does not match with the global distribution of PCOS phenotypes. Moreover, women with phenotype A were older and had high mean blood pressure, and a higher waist/hip ratio was observed among women with phenotype D. More epidemiological studies on this subject are needed in the region due to geographical, ethnic, and genetic variations.
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    文章类型: Journal Article
    UNASSIGNED: Cutaneous manifestations of COVID-19 have been documented from Europe, USA, and China but none from Africa to date. Skin findings among Africans differ from Caucasians and it is important to report these in Nigerians with COVID-19.
    UNASSIGNED: A prospective observational review involving patients seen at the Emergency triage, and Isolation wards of the Lagos University Teaching Hospital. Demographic and clinical data were captured; skin and appendages were examined by a dermatologist between 0800hrs and 1600hours to minimise visual errors of artificial light masking cutaneous lesions.
    UNASSIGNED: Of 235 participants, 17 (7.23%) had recent onset skin rash, with 7 (41.2%) experienced itching and 11 confirmed with COVID-19. There was a male: female ratio of 97:43 (2.3:1) among COVID-19 patients. Cutaneous findings were seen in 12 (5.1%) participants, with the face and trunk mostly affected and acne plus papular eruptions predominating. There was no significant relationship between COVID-19 and recent onset skin rash (χ2, p = 0.87). Only 2 of the 17 participants had a previously existing dermatoses ((χ2, p = 0.84). There was no significant relation between use of medications and onset of rashes (χ2, p = 0.72) or between those with co-morbidities and onset of rashes (χ2, p = 0.51).
    UNASSIGNED: Cutaneous manifestations were found among Nigerian patients with SARS-CoV-2 infection. Most presented with pruritus and papular eruptions and no morphologic pattern was demonstrated. Physicians and dermatologists need to be aware and look out for skin changes in SARS-CoV-2 infection as they may be early pointers to COVID-19. Keywords: Cutaneous findings, manifestations, Skin, COVID-19, Nigeria.
    UNASSIGNED: Des manifestations cutanées du COVID-19 ont été documentées en Europe, aux Etats-Unis et en Chine, mais aucune en Afrique à ce jour. Les manifestations cutanées chez les Africains diffèrent de celles des Caucasiens et il est important de les signaler chez les Nigérians atteints de COVID-19.
    UNASSIGNED: Une étude observationnelle prospective impliquant des patients vus au triage des urgences et dans les services d\'isolement de l\'hôpital universitaire de Lagos. Les données démographiques et cliniques ont été saisies ; la peau et les appendices ont été examinés par un dermatologue entre 8h00 et 16h00 pour minimiser les erreurs visuelles de la lumière artificielle masquant les lésions cutanées.
    UNASSIGNED: Sur 235 participants, 17 (7,23 %) ont présenté une éruption cutanée d\'apparition récente, dont 7 (41,2 %) ont eu des démangeaisons et 11 ont été confirmées par le COVID-19. Il y avait un rapport hommes/femmes de 97:43 (2,3:1) parmi les patients atteints de COVID-19. Des signes cutanés ont été observés chez 12 (5,1 %) participants, le visage et le tronc étant les plus touchés, avec une prédominance de l\'acné et des éruptions papuleuses. Il n\'y avait pas de relation significative entre le COVID-19 et les éruptions cutanées d\'apparition récente (χ2, p = 0,87). Seulement 2 des 17 participants avaient une dermatose déjà existante ((χ2, p = 0,84). Il n\'y avait pas de relation significative entre la prise de médicaments et l\'apparition d\'éruptions cutanées (χ2, p = 0,72) ou entre les personnes présentant des comorbidités et l\'apparition d\'éruptions cutanées (χ2, p = 0,51).
    UNASSIGNED: Des manifestations cutanées ont été constatées chez les patients nigérians atteints d\'une infection par le SRAS-CoV-2. La plupart d\'entre eux présentaient un prurit et des éruptions papuleuses et aucun modèle morphologique n\'a été mis en évidence. Les médecins et les dermatologues doivent être attentifs et rechercher les modifications cutanées dans l\'infection par le SRAS-CoV-2, car elles peuvent être des signes précurseurs du COVID-19.
    UNASSIGNED: Résultats cutanés, manifestations, Peau, COVID-19, Nigéria.
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  • 文章类型: Journal Article
    BACKGROUND: Crimean-Congo Hemorrhagic Fever (CCHF) is a particular regional concern because of endemicity in Afghanistan and many neighboring countries. The prevalence of CCHF has been increasing in this region. These concerns are compounded because there is no vaccine or therapeutic for CCHF and Afghanistan lacks adequate public health infrastructure in preventing, detecting, and containing cases. This investigation aimed to study the epidemiological, clinical, and laboratory features of CCHF in Afghanistan that might be useful in prevention and case detection, particularly in a limited resource setting.
    METHODS: A descriptive and analytic retrospective study of epidemiological, clinical, and laboratory features of confirmed patients (enzyme-linked immunosorbent assay (ELISA)-positive for CCHF) who were admitted to referral infectious center of Afghanistan from March 2017, to December 2018, was carried out.
    RESULTS: There were 51 ELISA-confirmed CCHF patients, comprised of 14 females and 37 males. The mean age was 30 years of age, and there were 11 deaths. The case fatality rate (CFR) was 21.6% and was not significant between sexes (p = 0.8). Most cases were recorded from June to September, which is the period containing Eid-al-Adha. With regard to occupation, 13.7% and 11.8% of subjects were butchers and shepherds, respectively. The leading clinical manifestations were fever, hemorrhage, and myalgia. The mean time between onset of symptoms and admission to the hospital was 4.9 days in recovered cases and 4.7 days for expired cases.
    CONCLUSIONS: The prevalence of CCHF is increasing in Afghanistan. The majority of cases visited the hospital during the late phase of infection. This delay can negatively affect the efficacy of treatment and lead to severe health outcomes. Our findings reveal that impaired Alanine aminotransferase (ALT), hemorrhagic manifestations (including epistaxis), and impaired consciousness were factors associated with a higher mortality rate. These biomarkers may provide a clue to possible early effective interventions and increasing the chance of survival of the patients.
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  • 文章类型: Journal Article
    背景:硬皮病和政变(ECDS)和Parry-Romberg特发性半面萎缩(IHA)可能会影响眼睛,口腔,牙齿可能还有大脑.
    目的:系统随访研究ECDS/IHA相关表现,包括眼科和牙科状况。
    方法:回顾了40年(1975-2015年)确诊的ECDS和IHA患者的病历,和患者重新检查。
    结果:纳入35例患者。22例患者(63%)有ECDS,4例患者(11%)有IHA。在9例(26%)中,在同一患者中发现了ECDS和IHA。9例(26%)患侧眼。在28例检查中,有13例(46%)发现了牙齿和舌头的同侧异常。11人(31%)在躯干或四肢有面外硬皮病。神经系统检查结果未证实为ECDS/IHA相关。
    结论:ECDS和IHA是相关的,并且通常与同侧面部结缔组织的伴随影响重叠。眼部和牙齿异常是常见的,并遵循主要影响的分布,例如,在上颌骨和下颌骨的前部和节段性影响中的线。这些影响指向胚胎生命中的易感畸形发生事件影响面部,在它们从后面迁移到头皮或横向迁移到面部以与额鼻间充质组织混合的阶段,上颌和下颌突。该研究强调,ECDS和IHA的常规评估应包括眼科和牙科专家检查。
    BACKGROUND: Scleroderma en coup de sabre (ECDS) and Parry-Romberg idiopathic hemifacial atrophy (IHA) may affect the eyes, oral cavity, teeth and possibly the brain.
    OBJECTIVE: Systematic follow-up study of ECDS/IHA-associated manifestations including ophthalmic and dental status.
    METHODS: Medical records of ECDS and IHA patients diagnosed in a 40-year period (1975-2015) were reviewed, and patients were re-examined.
    RESULTS: Thirty-five patients were included. Twenty-two patients (63%) had ECDS and 4 patients (11%) IHA. In 9 cases (26%), ECDS and IHA were found in the same patient. The ipsilateral eye was affected in 9 patients (26%). Ipsilateral abnormalities of the teeth and the tongue were found in 13 (46%) out of 28 examined. Eleven (31%) had extrafacial scleroderma on the trunk or the extremities. Neurological findings were not verified as ECDS/IHA related.
    CONCLUSIONS: ECDS and IHA are related and often overlap with concomitant affections of the connective tissues of the face on the ipsilateral side. Ocular and dental abnormalities are common and follow the distribution of the primary affection, for example, a paramedian line in the front and segmental affection of the maxilla and the mandible. The affections point to predisposing dysmorphogenetic events in embryonal life affecting the face, with abnormality of crest cells at the stage when they migrate from behind over the scalp or laterally to the face to mix up with mesenchymal tissues of the frontonasal, maxillary and mandibular processes. The study emphasizes that routine evaluation of ECDS and IHA should include ophthalmological and dental specialist examinations.
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  • 文章类型: Journal Article
    结节性硬化症(TSC)是一种常染色体显性遗传性神经皮肤疾病,具有异质表现。我们旨在回顾沙特人群中TSC的临床表现及其与癫痫的关系。这是一项对88例诊断为TSC伴或不伴癫痫患者的回顾性图表回顾研究。在38.6%的患者中,症状在1岁之前开始。TSC最常见的初始表现是新发作的癫痫发作(68.2%),皮肤表现(46.6%)和发育延迟(23.9%)。在疾病的演变过程中,65.9%的人患有癫痫,17%面部血管纤维瘤,13.6%Shagreen补丁,18.2%的心脏横纹肌瘤和12.5%的视网膜错构瘤。对44例患者进行了TSC诊断的遗传学研究,其中42人(95,4%)经基因证实,其中13例患者有TSC1突变(29.5%),29例患者携带TSC2基因突变(65.9%),TSC1和TSC2的基因检测对2例患者(4.5%)阴性,尽管其亲属TSC的基因突变呈阳性。最常见的表现是中枢神经系统(主要是癫痫)和皮肤病学表现。大多数患者发展为多种发作类型的癫痫。TSC2突变比TSC1突变更常见。
    Tuberous sclerosis complex (TSC) is an autosomal dominant genetic neurocutaneous disorder, with heterogeneous manifestations. We aimed to review the clinical presentation of TSC and its association with epilepsy among Saudi population. This was a retrospective chart review study of 88 patients diagnosed with TSC with or without epilepsy. In 38.6% of patients, symptoms began before 1 year of age. The most frequent initial manifestations of TSC were new onset of seizures (68.2%), skin manifestations (46.6%) and development delay (23.9%). During the evolution of the disease 65.9% had epilepsy, 17% facial angiofibromas, 13.6% Shagreen patch, 18.2% heart rhabdomyomas and 12.5% retinal hamartomas. The genetic study for TSC diagnosis was done for 44 patients, 42 (95,4%) of them were genetically confirmed, for whom 13 patients had TSC1 mutation (29.5%), 29 patients were carrying TSC2 gene mutation (65.9%), Genetic test for TSC 1 and TSC 2 were negative for 2 patients (4.5%) despite positive gene mutation in their relative with TSC. The most common manifestations were central nervous system (predominantly epilepsy) and dermatological manifestations. Most of the patients develop epilepsy with multiple seizure types. TSC 2 mutation is more common than TSC 1 mutation.
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  • 文章类型: Journal Article
    OBJECTIVE: To analyze the severity of the oral lesions in low-risk oral mucous membrane pemphigoid (OMMP) measured according to the size of the bullous areas and the number of simultaneously affected oral locations.
    METHODS: A total of 100 cases of low-risk OMMP were studied. The symptoms and location of OMMP in the oral cavity were analyzed. The bullous areas were measured, establishing three grades according to the greatest bullous lesion size (grade 1: < 3 cm in size; grade 2: 3-6 cm; and grade 3: > 6 cm).
    RESULTS: The mean age of the patients was 66.07 ± 13.55 years, with a clear predominance of females (84%). Desquamative gingivitis was the most common presentation (97%). A single oral location was found in 67% of the cases, two in 18% and three in 15%. The most common presentation corresponded to grade 1 (the greatest bullous lesion size < 3 cm; 51.6% of the cases).
    CONCLUSIONS: Most cases of low-risk OMMP are restricted to a single site in the oral cavity, the gingiva being the most common location-the predominant grade corresponding to the greatest bullous lesion size < 3 cm.
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