Visual loss describes temporary or permanent reduction in visual acuity and/or field. Its aetiology is diverse due to the contributions of the different neuro-ophthalmic structures (eye, optic nerve, and brain) to image formation and perception, but may be categorised into ocular causes (corneal, lenticular, vitreoretinal and macular) or optic neuropathies. Continue reading “Clinical Approach to Vision Loss”
Maturity-onset diabetes of the young (MODY) is an autosomal dominantly inherited type of diabetes that results from heterozygous mutations in various transcription factors acting in the development and maturation of pancreatic β-cells. In addition, mutations in enzymes involved in glucose sensing of the β-cell have also been shown to result in early-onset diabetes. Characteristic features of MODY are autosomal inheritance, early onset of diabetes (with diagnosis generally before the age of 25 years), no signs related to the autoimmune process or insulin resistance, and preservation of endogenous insulin secretion. Continue reading “MODY subtypes: gene mutations, pathophysiology, and clinical characteristics”
Rasmussen’s encephalitis (RE) is a rare chronic inflammatory brain disorder resulting in progressive neurodegeneration in one cerebral hemisphere. The inflammatory process is accompanied by progressive loss of function of the affected hemisphere, associated with drug-resistant partial epilepsy. The diagnosis is based on a range of clinical, electroencephalographic, radiological and biochemical arguments, without any specific formal marker, which makes the diagnosis of the disease complex, especially in its initial phase. Seizures are refractory to anti-seizures medication (ASM) and to classical immunomodulatory treatments.
Continue reading “Clinical Criteria for Rasmussen´s Encephalitis”
The clinician must investigate and corroborate key features of the history that help to better characterize seizures while distinguishing epileptic seizures from nonepileptic events. The most common nonepileptic paroxysmal events during childhood and adolescence are syncope, psychogenic nonepileptic events (PNES), pallid and cyanotic breath holding spells, reflux/Sandifer syndrome, self-gratification disorders, and paroxysmal nonepileptic motor disorders of sleep among others. Continue reading “Clinical Aspects of the Diagnosis of Epileptic Seizures”
Cytokine storm is an umbrella term encompassing several disorders of immune dysregulation characterized by constitutional symptoms, systemic inflammation, and multiorgan dysfunction that can lead to multiorgan failure if inadequately treated. Continue reading “Clinical Causes of Cytokine Storm”
Sclerosing cholangitis (SC) is defined as a condition with progressive stenosis and destruction of the bile ducts due to diffuse inflammation and fibrosis and currently includes three categories: primary sclerosing cholangitis (PSC), secondary cholangitis, and IgG4-related sclerosing cholangitis (IgG4-SC). SC categories share similar clinical features, such as cholestasis. Patients with SC present with cholestatic symptoms, including jaundice and pruritus, and blood tests reveal elevation of cholestatic enzymes. Continue reading “Clinical Diagnostic Criteria of IgG4-Related Sclerosing Cholangitis (IgG4-SC)”
During the initial phase of the Covid-19 outbreak, the diagnosis of the disease was complicated by the diversity in symptoms and imaging findings and in the severity of disease at the time of presentation. Continue reading “Clinical Characteristics of Coronavirus Disease (Covid-19)”
The Dementia with Lewy Bodies (DLB) Consortium has refined its recommendations about the clinical and pathologic diagnosis of DLB, updating the previous report, which has been in widespread use for the last decade. The revised DLB consensus criteria now distinguish clearly between clinical features and diagnostic biomarkers, and give guidance about optimal methods to establish and interpret these.
Continue reading “Revised Criteria for the Clinical Diagnosis of Dementia with Lewy Bodies (DLB)”
The prerequisite to apply the Movement Disorder Society (MDS-PD) criteria is the diagnosis of parkinsonism, which is based on three cardinal motor manifestations. Parkinsonism is defined as bradykinesia, in combination with either rest tremor, rigidity, or both. These features must be clearly demonstrable and not attributable to confounding factors. Continue reading “MDS Clinical Diagnostic Criteria for Parkinson’s Disease (PD)”
Anaphylaxis can present with a spectrum of signs and symptoms affecting multiple organ systems, including the skin, gastrointestinal tract, cardiovascular system, nervous system, and both the upper and lower respiratory tracts; hallmarks of anaphylaxis are the development of hypotension or the involvement of more than one organ system.
Continue reading “Clinical Features of Anaphylaxis”