Search results for "abnormal"
showing 10 items of 761 documents
Autosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism?
1996
A new type of osteodysplastic primordial dwarfism is delineated in a 5- year-old female child with severe growth retardation of prenatal onset, gross skeletal changes, a non-Seckel facial phenotype, and presumed autosomal recessive inheritance.
Data from: Novel adverse outcome pathways revealed by chemical genetics in a developing marine fish
2017
Crude oil spills are a worldwide ocean conservation threat. Fish are particularly vulnerable to the oiling of spawning habitats, and crude oil causes severe abnormalities in embryos and larvae. However, the underlying mechanisms for these developmental defects are not well understood. Here, we explore the transcriptional basis for four discrete crude oil injury phenotypes in the early life stages of the commercially important Atlantic haddock (Melanogrammus aeglefinus). These include defects in (1) cardiac form and function, (2) craniofacial development, (3) ionoregulation and fluid balance, and (4) cholesterol synthesis and homeostasis. Our findings suggest a key role for intracellular cal…
Data from: The role of morbidly obesity in the promotion of metabolic disruptions and non-alcoholic steatohepatitis by Helicobacter Pylori
2017
Helicobacter pylori (HP) infection has been associated to an increased rate of type 2 diabetes (T2D) and liver disease through its effect on insulin resistance and systemic inflammation. However, results are inconstant and no studies exist in morbidly obese patients, in which both insulin resistance and inflammation coexist. Material and Methods: Cross-sectional study to evaluate the relationship between HP infection and alterations in carbohydrate metabolism, lipid profile, inflammation markers, and liver disease in patients awaiting for bariatric surgery. HP infection was histologically assessed in gastric antrum biopsy from 416 subjects. Liver biopsy was also available in 93 subjects. Re…
A pouch in the cervix: a strange diagnosis
2016
Anechoic cervical lesions are uncommon findings which may entail diagnostic and, therefore, management difficulties. Chronic cervicitis, bulky nabothian cysts, adenomyomas, niches (cesarean scar defects), congenital malformations, and pseudo-neoplastic glandular cervical lesions often raise diagnostic dilemmas; they may also mimic malignant lesions [1–4]. Other anechoic images worth considering are those produced by cystic changes after cervical trauma, lacerations, or extremely rare false passages resulting from cervical dilatation [5]. Methods
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis
2012
Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects. Early death occurs in most cases from anuria, pulmonary hypoplasia, and refractory arterial hypotension. The disease is linked to mutations in the genes encoding several components of the renin-angiotensin system (RAS): AGT (angiotensinogen), REN (renin), ACE (angiotensin-converting enzyme), and AGTR1 (angiotensin II receptor type 1). Here, we review the series of 54 distinct mutations identified in 48 unrelated families. Most of them are no…
Medical abortion: Teratogenic effects of misoprostol.
2015
Some 40 million abortions are performed around the world every year. In Spain, this figure reached 112,390 in 2011. Of these, approximately 5% were medical abortions. This percentage varies widely ...
Abnormal Nailfold Capillaries in Patients after Hand Transplantation
2020
Background: The development of graft vasculopathy may play a role in the long-term deterioration of hand grafts. The aim of study was to examine the patterns of the nailfold capillaries in hand transplant recipients. Methods: the study was performed on six patients who received hand transplantation. To normalize for the effect of immunosuppression an age- and sex-matched group of 12 patients with active kidney transplant was selected. As an additional control group, 12 healthy volunteers were recruited. Nailfold videocapillaroscopy was performed in all participants. Additionally, serum concentrations of vascular endothelial growth factor (VEGF) were measured. Results: Videocapillaroscopic e…
Diagnostic of craniofacial asymmetry : literature review
2009
Facial asymmetry is a common feature in many syndromes, and requires surgery as the only valid treatment option. Routine diagnostic methods (frontal RX, panoramic RX and submentovertex RX) have serious limitations mainly due to the transfer from a three dimensional image to a two dimensional plane. The feasibility of such methods is poorly supported due to inherent projection errors (image magnification, cranial rotation) and identification errors (image quality, precision and reproducibility). The use of computer tomographies represents a substantial improvement in the sense of skeletal and soft tissue structures? reproduction precision. The interpretation of this new data source makes evi…
Nonsyndromic cleft lip and/or palate: A multicenter study of the dental anomalies involved
2018
Background Nonsyndromic cleft lip and/or palate (NSCL/P) is the most common craniofacial malformation. Due to the anatomical defect present in the alveolar process, these patients tend to exhibit more dental anomalies. The aim of this study was to identify the prevalence of dental anomalies in patients with NSCL/P by obtaining orthodontic documentation from Brazilian Centers for cleft lip and palate treatment. Material and Methods A retrospective analysis (2000-2014) was conducted on orthodontic archives, radiographs and medical records of NSCL/P of 524 patients under orthodontic treatment. Panoramic radiographs and intra-oral photographs were examined to identify these anomalies. Categoric…
Pili Torti: A Feature of Numerous Congenital and Acquired Conditions
2021
Pili torti is a rare condition characterized by the presence of the hair shaft, which is flattened at irregular intervals and twisted 180° along its long axis. It is a form of hair shaft disorder with increased fragility. The condition is classified into inherited and acquired. Inherited forms may be either isolated or associated with numerous genetic diseases or syndromes (e.g., Menkes disease, Björnstad syndrome, Netherton syndrome, and Bazex-Dupré-Christol syndrome). Moreover, pili torti may be a feature of various ectodermal dysplasias (such as Rapp-Hodgkin syndrome and Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome). Acquired pili torti was described in numerous forms of …