Guidelines for Diagnosis of the Lynch Syndrome

The Lynch syndrome is the most common inherited syndrome associated with colorectal cancer, accounting for 3% of new diagnoses; it is also associated with extracolonic cancers, the most common of which is endometrial cancer.
The Lynch syndrome phenotype includes a propensity for cancers of the proximal colon, poor tumor differentiation with mucinous or signet-ring cell histologic features or a medullary growth pattern, abundant infiltrating lymphocytes in the tumor, and synchronous and metachronous colorectal cancers. Continue reading

Diagnosis of Diabetes Insipidus (DI)

Diabetes insipidus is a disease in which large volumes of dilute urine (polyuria) are excreted due to vasopressin (AVP) deficiency [central diabetes insipidus (CDI)], AVP resistance [nephrogenic diabetes insipidus (NDI)], or excessive water intake (primary polydipsia). Polyuria is characterized by a urine volume in excess of 2 l/m2/24 h or approximately 150 ml/kg/24 h at birth, 100–110 ml/kg/24 h until the age of 2 years and 40–50 ml/kg/24 h in the older child and adult. Continue reading

Diagnosis of Subclinical Hyperthyroidism

In overt hyperthyroidism, serum levels of free T4 and triiodothyronine (T3) or levels of T3 alone are elevated, and serum thyrotropin (TSH) levels are suppressed. In subclinical hyperthyroidism, levels of free T4 and T3 are normal, thyrotropin levels are suppressed, and thyroid hormone levels are usually in the middle to upper range of normal. Continue reading

Criteria for the Diagnosis of POEMS Syndrome

POEMS syndrome is a rare paraneoplastic syndrome due to an underlying plasma cell disorder (PCD). The acronym, which was coined by Bardwick in 1980, refers to several, but not all, of the features of the syndrome: polyradiculoneuropathy, organomegaly, endocrinopathy, monoclonal PCD, and skin changes. Continue reading

Revised Criteria for Diagnosis of Alzheimer’s Disease (AD)

The National Institute on Aging and the Alzheimer’s Association (NIA-AA) charged a workgroup with the task of developing criteria for the symptomatic predementia phase of Alzheimer’s disease (AD), referred to in this article as mild cognitive impairment due to AD.  Continue reading

The 2017 McDonald Criteria for Diagnosis of Multiple Sclerosis (MS)

The 2017 McDonald criteria continue to apply primarily to patients experiencing a typical clinically isolated syndrome, define what is needed to fulfil dissemination in time and space of lesions in the CNS, and stress the need for no better explanation for the presentation. Continue reading

Revised Criteria for the Clinical Diagnosis of Dementia with Lewy Bodies (DLB)

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.
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