scholarly journals Clinical manifestations and complications in 1028 cases of brucellosis: a retrospective evaluation and review of the literature

2010 ◽  
Vol 14 (6) ◽  
pp. e469-e478 ◽  
Author(s):  
Turan Buzgan ◽  
Mustafa Kasim Karahocagil ◽  
Hasan Irmak ◽  
Ali Irfan Baran ◽  
Hasan Karsen ◽  
...  
2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Qiao-Yan Shao ◽  
Pei-Lin Wu ◽  
Bi-Yun Lin ◽  
Sen-Jing Chen ◽  
Jian Liu ◽  
...  

Abstract Background Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations. Case presentation Our patient presented with specific facial features, hypoparathyroidism, sen sorineural deafness, renal abnormalities, and developmental retardation, and carried a 12.6 Mb deletion in the 10p15.3 p13 region. The terminal 10p deletion involved in our patient is the second largest reported terminal deletion reported to date, and includes the ZMYND11 and GATA3 genes and a partial critical region of the DiGeorge syndrome 2 gene (DGS2). Conclusion On the basis of a literature review, this terminal 10p deletion in the present case is responsible for a specific contiguous gene syndrome. This rare case may help the understanding of the genotype–phenotype spectrum of terminal deletion of chromosome 10p.


1996 ◽  
Vol 1 (4) ◽  
pp. 275-280 ◽  
Author(s):  
Howard Daniel Hoerl ◽  
Aldo Tabares ◽  
Kandice Kottke-Marchant

Activated protein C resistance (APCR) is a recently discovered, medically important cause of venous thrombosis. More than 95% of cases are due to factor V Leiden (FVL), a mutated form of factor V that is resistant to degradation by activated protein C. The prevalence of this disorder, which is inherited in an autosomal dominant fashion, is approximately 5% among asymptomatic people of European heritage. In addition, 20 to 60% of patient cohorts with previous thrombosis demonstrate APCR, making it the most common known genetic cause of abnormal thrombophilia. Current laboratory techniques available for diagnosis include functional assays, such as the APC ratio, as well as DNA-based tests that detect the specific genetic anomaly responsible for FVL. A case report is presented, along with a review of the literature highlighting epidemiology, pathogenesis, clinical features and methods for laboratory diagnosis.


Author(s):  
И.А. Куклин ◽  
Н.П. Малишевская ◽  
М.М. Кохан ◽  
Г.Д. Сафонова ◽  
О.Г. Римар ◽  
...  

В статье представлен краткий обзор литературы о клинических проявлениях, современных методах диагностики и лечения чрезвычайно редкого заболевания – множественной эруптивной кератоакантомы типа Гржебовски. Заболевание характеризуется возникновением сотен или тысяч генерализованных зудящих узелков на коже лица, туловища, конечностей, половых органов, слизистой полости рта и гортани в течение короткого времени. Заболевание развивается в возрасте старше 40 лет, имеет рецидивирующее течение, возможна спонтанная инволюция отдельных элементов с формированием участков депигментации или атрофических рубцов. Авторы приводят случай собственного клинического наблюдения множественной эруптивной кератоакантомы типа Гржебовски у пациента 50 лет, который обратился на консультацию к дерматовенерологу в клинику Уральского НИИ дерматовенерологии и иммунопатологии. Длительность болезни на момент обращения составляла 2,5 года, ее возникновению предшествовало неоднократное посещение больным стран с избыточной инсоляцией, что может рассматриваться в качестве этиологического фактора развития заболевания. Диагноз впервые был заподозрен на консилиуме дерматовенерологов на основании клинической картины заболевания и в дальнейшем верифицирован данными патоморфологического исследования биоптата пораженной кожи. Показана эффективность применения ароматических ретиноидов в лечении множественной эруптивной кератоакантомы типа Гржебовски и приведены побочные эффекты, которые развились у больного при самостоятельном увеличении дозы ацитретина до 70 мг/сутки. В статье констатируется чрезвычайно редкая встречаемость данного заболевания, о чем свидетельствует приведенный клинический случай, диагностируемый впервые более чем за 90-летнюю историю существования института. Подчеркивается важность консолидации клинического опыта нескольких ведущих дерматовенерологов для диагностики множественной эруптивной кератоакантомы типа Гржебовски. The article presents a brief review of the literature about clinical manifestations, modern methods of diagnosticsand treatment of an extremely rare disease – generalized eruptive keratoacanthomas of Grzybowski. The disease is characterized by the appearance of hundreds or thousands of generalized itchy nodules on the skin of the face, trunk, limbs, genitals, oral mucosa and larynx within a short time. The disease develops at the age of over 40, has a recurrent course, spontaneous involution of individual elements with the formation of areas of depigmentation or atrophic scars is possible. The authors describe a case of their own clinical care of generalized eruptive keratoacanthomas of Grzybowski in a 50-year-old patient who consulted a dermatovenerologist at the clinic of the Ural Research Institute of Dermatovenerology and Immunopathology.The duration of the disease at the time of visit to a doctor was 2,5 years, its occurrence was preceded by repeated visits to countries with excessive insolation, which can be considered as an etiological factor in the development of the disease. The diagnosis was first suspected at a boarddermatovenerologists based on the clinical picture of the disease and subsequently verified by the data of a pathomorphological examination of the biopsy of the affected skin.The effectiveness of the use of aromatic retinoids in the treatment of generalized eruptive keratoacanthomas of Grzybowski is shown and the side effects that developed in the patient with an independent increase in the dose of acitretin to 70 mg/day are given. The article states the extremely rare occurrence of this disease, as evidenced by the above clinical case, diagnosed for the first time in more than 90 years of the institute's existence. The importance of consolidating the clinical experience of several leading dermatovenerologists for the diagnostics of generalized eruptive keratoacanthomas of Grzybowski is emphasized.


Vestnik ◽  
2021 ◽  
pp. 91-96
Author(s):  
Г.Ж. Жакенова ◽  
Р.Б. Нуржанова ◽  
К.Б. Сраилова ◽  
Ж.С. Шерияздан ◽  
А.Б. Ташманова ◽  
...  

В данной статье представлен обзор литературы по транзиторным ишемическим атакам: эпидемиология, этиология, патогенез, классификация, основные характеристики с учетом факторов риска, визуализационных признаков МРТ и КТ, клинических проявлений и дифференциальной диагностики данного заболевания на основе современных исследований. This article presents a review of the literature on transient ischemic attacks: epidemiology, etiology, pathogenesis, classification, main characteristics taking into account risk factors, imaging signs of MRI and CT, clinical manifestations and differential diagnosis of this disease based on modern research.


2018 ◽  
Vol 140 (2) ◽  
pp. 77-86 ◽  
Author(s):  
Yeping Luo ◽  
Zhuoying Li ◽  
Lihua Huang ◽  
Jing Tian ◽  
Menglong Xiong ◽  
...  

Background/Aims: Hereditary spherocytosis (HS) is a common pediatric hemolytic anemia caused by congenital red blood cell defects. HS due to ankyrin 1 (ANK1) mutations is the most common type. We explored an ANK1 mutation from an HS patient and reviewed the literature. Methods: We detected the mutation in a Chinese family in which 2 members were diagnosed with HS by next-generation sequencing. The proband was diagnosed with HS in the newborn period, based on clinical manifestations, laboratory data, and family history. The mutation spectrum of the ANK1 gene was summarized based on 85 patients diagnosed with HS carrying ANK1 mutations, and the ANK1 mutation spectrum was summarized and analyzed. Results: We identified a novel mutation affecting ANK1 gene splicing (a splicing mutation) in both the patient and her mother, which is a substitution of T>G 2 nt after exon 25 in intron 26. The study expands our knowledge of the ANK1 gene mutation spectrum, providing a molecular basis for HS. Conclusion: A novel ANK1 mutation (NM_000037.3, c.2960+2T>G, intron 26) that is potentially associated with HS was identified. To date, 80 ANK1 mutations have been reported to be associated with HS in humans.


PEDIATRICS ◽  
1958 ◽  
Vol 21 (4) ◽  
pp. 604-604

Gross hemorrhage under the capsule of the liver or from rupture of the parenchyma appears to be a direct cause or a significant factor in 1.2 to 5.6% of stillbirths and neonatal deaths, according to the author from this review of the literature. This form of intra-abdominal hemorrhage has not been readily recognized during life judging from the nature of the reports, nearly all of which are based on necropsy. The clinical manifestations are distinctive. The infants generally appear normal for the first 48 hours of life and then develop pallor and a decreasing concentration of hemoglobin in the blood, rapidly progressing to sudden collapse. A swelling may be palpated in the vicinity of the liver. Bleeding may be severe, and prompt recognition and treatment are imperative. Transfusion is obviously the most important therapeutic measure. The amount of blood required should not be underestimated. The occasional indications for surgical laparotomy are discussed but conservative treatment is generally preferable.


2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Awrad Nasralla ◽  
Mufeed Alwabari ◽  
Osama Alsaif ◽  
Samir S. Amr

Plexiform fibromyxoma of the stomach, also known as plexiform angiomyxoid myofibroblastic tumor, is a rare benign gastric mesenchymal tumor, first described in 2007, which usually arises in the gastric antrum and affects adults. Few cases have been reported in children and adolescents. It can present with different clinical manifestations including abdominal pain, dyspepsia, hematemesis, and vomiting. Preoperatively, this tumor is usually diagnosed as gastrointestinal stromal tumor (GIST), and the correct diagnosis is made only after histopathological examination following surgical resection. Most cases were reported from East Asia (China, Japan, and Korea), North America, and Europe. We report herein a unique case of plexiform fibromyxoma, the first to be reported from the Middle East, arising in the cardia of the stomach in a 16-year-old adolescent male, with a brief review of the literature.


2017 ◽  
Vol 2017 ◽  
pp. 1-4
Author(s):  
Franco Ferrante ◽  
Sergio Blasi ◽  
Rolando Crippa ◽  
Francesca Angiero

Hypopituitarism is a disorder caused by a reduced level of trophic hormones that may be consequent on different destructive processes. The clinical manifestations depend on the type of hormone involved. A deficiency of growth hormone (GH) in children causes the lack of growth known as pituitary dwarfism. The case is reported of a patient with pituitary dwarfism, multiple dental anomalies, functional prosthetic problems, and a revision of the literature. She was subjected to prosthetic rehabilitation without surgical intervention, using zirconium substructures, thus eliminating the potential complications that may require trauma surgery. The therapeutic approach adopted led to excellent results and restored an aesthetic smile.


2020 ◽  
Vol 1 (1) ◽  
Author(s):  
Alex Lara Jácome ◽  
Luis Mogrovejo Freire ◽  
Guillermo Freire Castro ◽  
Rosaura Bravo Pita ◽  
Omar Barragán Cabezas ◽  
...  

Tuberculosis is one of the most serious infectious problems in the world, it represents one of the main causes of global morbidity and mortality. Primary tuberculosis of the oral cavity and oropharynx is quite rare. In this article, we describe a case of a 38-year-old woman who has been HIV positive for two years with a diagnosis of tonsillar tuberculosis with an active pulmonary focus. Clinical manifestations, difficulty of diagnosis, differential diagnoses are considered. A detailed review of the literature on tonsillar tuberculosis is also included. Palabras claves: amígdala, tuberculosis, VHI


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