• Neuroimaging can delineate the degree of central nervous system (CNS) dysgenesis and help to evaluate other potential etiologies of intractable epilepsy and developmental delay. (medscape.com)
  • Neuroimaging can delineate the degree of CNS dysgenesis and help evaluate other potential etiologies of intractable epilepsy and developmental delay. (medscape.com)
  • An additional 7 patients were described in 1969, and in 1972, Dennis and Bower established the Aicardi syndrome designation. (medscape.com)
  • At present, no exact etiology explains all the manifestations of Aicardi syndrome. (medscape.com)
  • The identification of recurrent hypomethylation in the KCNAB3 gene's promoter and 5' areas in patients with Aicardi syndrome, as discussed in a study by Piras et al, may aid in the understanding of neuronal hyperactivity, as well as the neurodevelopmental and/or neuroinflammation pathways, in these individuals. (medscape.com)
  • Cerebellar migration defects in aicardi syndrome: an extension of the neuropathological spectrum. (medscape.com)
  • Study of Selected X-Linked Disorders: Aicardi Syndrome. (medscape.com)
  • New incidence, prevalence, and survival of Aicardi syndrome from 408 cases. (medscape.com)
  • Aicardi syndrome: an epidemiologic and clinical study in Norway. (medscape.com)
  • Fetal infection can result in miscarriage, stillbirth, or infants born with life-threatening or disabling congenital malformations, known as congenital rubella syndrome (CRS). (cdc.gov)
  • Although rubella virus infection usually produces a mild febrile rash illness in children and adults, infection during pregnancy, especially during the first trimester, can result in miscarriage, fetal death, stillbirth, or an infant born with a constellation of birth defects known as congenital rubella syndrome (CRS). (cdc.gov)
  • To provide generic guidelines for assessing clusters of health events (e.g., noninfectious diseases, injuries, birth defects, and previously unrecognized syndromes or illnesses). (cdc.gov)
  • Among the congenital defects that have most aroused the interest of clinicians and researchers, are those of the Down Syndrome, whose most clinical manifestations were described for the first time by John Langdon Down, in 1866 2 . (bvsalud.org)
  • Many articles have been published relating the main manifestations present in this syndrome, which in Brazil, presents a prevalence of 1:600 births, according to the World Health Organization. (bvsalud.org)
  • In Le Roy, New York, in 2011, a mysterious medical condition emerged: Several teenage girls suddenly began to exhibit symptoms similar to those of Tourette's Syndrome, including involuntary twitches, movements, and sounds. (bestcustomwriters.com)
  • The symptoms of this rare syndrome sometimes mimics Osteomyelitis or Tuberculosis. (clinmedjournals.org)
  • 1988 ) between the two groups, and recommended changing the terminology from "sleep apnea syndrome" to "sleep hypopnea syndrome," defined as 15 or more hypopneas per hour of sleep in conjunction with 2 or more major clinical features. (biomedcentral.com)
  • According to some Dentists if there is a complete or partial absence of Lamina dura then it is a diagnosis of pathoses like Cushing syndrome, Osteoporosis, Leukemia Pyle's disease, Hyperparathyroidism, and some other periapical pathology. (actascientific.com)
  • Early diagnosis and recognition of this syndrome can prevent catastrophic changes and prolonged morbidity. (clinmedjournals.org)
  • In 1997, the AASM created a task force to delineate the criteria to identify and treat OSA. (biomedcentral.com)
  • In this landmark contribution, Sir Austin Bradford Hill delineated a series of criteria for evaluating whether an observed association between an exposure and an outcome should be considered causal. (bestcustomwriters.com)
  • Medical researchers charge that ADHD does not meet the medical definition of a disease or syndrome or anything organic or biologic. (americanpolicy.org)
  • In 1995, Gene R. Haislip of the Drug Enforcement Administration said, "We are also unaware that ADHD has been validated as a biologic/organic syndrome or disease. (americanpolicy.org)
  • In 1965, a French neurologist, Dr Jean Dennis Aicardi, described 8 children with infantile spasm-in-flexion, total or partial agenesis of the corpus callosum, and variable ocular abnormalities. (medscape.com)
  • For example, I'd like to take a look at the matter of "the microphone behind the French horns syndrome. (stereophile.com)
  • Because of previously known variations in population frequency distributions of ABO blood groups and newly discovered single nucleotide polymorphisms in ABO gene in the human genome project, associations of personality traits and health risks with ABO blood groups continue to be delineated with increasing specificity. (hy-ls.org)
  • The aim of this study was to analyze the facial features of patients with Down syndrome, such as projection of the nose, projection and length of upper and lower lips, projection of soft pogonion and to compare them with the standardized analysis by Ayala and Gutierrez 1 . (bvsalud.org)
  • The sample consisted of 20 patients with Down's Syndrome, between 8 and 13 years-old of both genders. (bvsalud.org)
  • The facial analysis of patients with Down's Syndrome, compared with Ayala and Gutierrez 1 , showed smaller nasal projection, greater projection of the upper and lower lip, but lengths, and retrusion of the soft pogonion, similar to those of normal individuals. (bvsalud.org)
  • Down Syndrome is essentially a delay in development, of both motor functions of the body and mental functions, popularly known as Mongolism. (bvsalud.org)
  • The rapid rollout of vaccines against COVID-19 as a key mitigation strategy to end the global pandemic might be informed by lessons learned from rubella vaccine implementation in response to the global rubella epidemic of 1963-1965. (nih.gov)
  • Experiences from the rubella disease control program highlight the critical and evolving elements of a vaccination program, including clearly delineated goals and strategies, regular data-driven revisions to the program based on disease and vaccine safety surveillance, and evaluations to identify the vaccine most capable of achieving disease control targets. (nih.gov)
  • Although rubella virus infection usually produces a mild febrile rash illness in children and adults, infection during pregnancy, especially during the first trimester, can result in miscarriage, fetal death, stillbirth, or an infant born with a constellation of birth defects known as congenital rubella syndrome (CRS). (cdc.gov)
  • Fetal infection can result in miscarriage, stillbirth, or infants born with life-threatening or disabling congenital malformations, known as congenital rubella syndrome (CRS). (cdc.gov)
  • Severe to extreme insulin resistance syndromes b. (nih.gov)
  • As the multiple mitochondrial functions are mutually interconnected, changes in protein composition by mutations or in supercomplex assembly and/or in membrane structures often generate a dysfunctional cascade and lead to life-incompatible diseases or severe syndromes. (researchgate.net)
  • Raeder paratrigeminal syndrome (RPS), also known as Raeder syndrome or paratrigeminal neuralgia, is an uncommon neurological disorder characterized by unilateral oculosympathetic paralysis (i.e. (eyewiki.org)
  • Although the metachromasia they used as the cellulo-phenotypic equivalent of the disease has been superceded by cellular characteristics more specific because they are closer to the primary action of the mutant gene, Danes and Bearn (1965) gave a "shot in the arm" to the field. (nih.gov)
  • RPS is a diagnosis of exclusion and neuroimaging is recommended because middle cranial fossa or cavernous sinus lesions (V1 pain and Horner syndrome) or ipsilateral carotid artery dissection with referred V1 pain can mimic RPS. (eyewiki.org)
  • Mutant insulin syndromes a. (nih.gov)
  • Immunologists had delineated blood groups as genetic markers, and biochemists were rapidly expanding the understanding of certain metabolic disorders. (nih.gov)
  • Since diabetes, particularly NIDDM, is a heterogenous (or factors) other than insulin-dependent disorder, the revelation of a specific genetic basis for diabetes mellitus (IDDM), non-insulin-dependent diabetes in many families continues to delineate many diabetes mellitus (NIDDM), or gestational diabetes subclasses of NIDDM. (nih.gov)
  • The net metabolic outcome in patients of diabetes with a syndrome or a condition (e.g., a with secondary diabetes thus depends on the direct or number of genetic syndromes). (nih.gov)
  • Laurent Brochard (Toronto, ON, Canada) covered the topic of ventilatory and non-ventilatory management in acute respiratory distress syndrome (ARDS), particularly in terms of preventing ventilator-induced lung injury (VILI). (ersjournals.com)
  • Wavelet-based cross-spectrum and phase difference indexes (PDI) were evaluated as classification parameters to delineate between normal and arrhythmic ECG patterns. (org.pk)
  • In 1962, Boniuk and Shelzinger provided their own classification of Raeder syndrome into two types: group I and group II. (eyewiki.org)
  • Horner syndrome) accompanied by ipsilateral sensory and/or motor abnormalities in the distribution of the trigeminal nerve fibers. (eyewiki.org)
  • preventive measures and remedial strategies concerning to defluoridation have been delineated precisely. (ijert.org)
  • They concluded group II Raeder syndrome was a "benign" entity with a favorable outcome and a self-limited course, although miosis and ptosis may remain. (eyewiki.org)
  • In particular, the XYY chromosome abnormality, also called Jacobs' Syndrome, was deeply studied because many researchers in the last fifty years have tried to find a link between this syndrome and violent and/or dysfunctional behavior. (omicsonline.org)
  • The terms "general alarm reaction" and "general adaptation syndrome" were proposed for the description of these two phases of the response. (brainimmune.com)
  • During the 1960s and the 1970s, some studies postulated that Jacobs' Syndrome can lead to aggressive and/or criminal behavior, but the statistical certainty was questioned. (omicsonline.org)
  • Main types of arrhythmias include premature atrial and ventricular contractions, ventricular fibrillation and Wolff-Parkinson-White syndrome, and can appear in the form of fluttering in chest, sudden cardiac arrest, syncope, palpitations or no symptoms at all. (org.pk)