Nails are considered epidermal appendages, and as such, are commonly affected in patients with psoriasis, 80% of whom are likely to develop nail psoriasis as a result of their condition. Two patterns of nail disorders have been shown to be caused by psoriasis. Nail matrix involvement can result in features such as leukonychia, pitting (punctures or cupuliform depressions), red spots in the lunula and crumbling. Nail bed involvement, on the other hand, can cause onycholysis, salmon or oil-drop patches, subungual hyperkeratosis and splinter hemorrhages. Nail disease causes aesthetic and functional impairment, and is indicative of more severe forms of psoriasis as well as of joint involvement. The treatment for nail psoriasis involves behavioral interventions, topical medications, or systemic therapy in case of extensive skin or joint involvement. This article presents a review of the main features of nail psoriasis, its clinical presentation, diagnostic and assessment methods, clinical repercussions, and of its available treatment options.
The right classification for diabetes mellitus (DM) allows a more adequate treatment and comprises four categories: type 1 DM, type 2 DM, other types, and gestational diabetes. In some cases, there might be a superposition of situations, especially with regard to the DM that initiates in the young adult or is initially presented with diabetic ketoacidosis intermediately to type 1 and 2 DM. Thus, additions to the classic classification system have been proposed as assessing the presence of autoimmunity (antibody) and b cell function (C-peptide) to precisely define the subtypes. The aim of this literature review was to analyze these diagnostic indexes` performance in the DM classification and to describe subtypes with details. The antibodies against pancreas confirm autoimmunity, and the antibody against insulin is more accurate before 5 years old, while the anti-glutamic acid decarboxylase is more accurate after 20 years old, a test which remains positive for a longer period. The measurement of C-peptide evaluates the pancreatic insulin reserve, and the most largely used methods of stimulation are the measurement after meals or after intravenous glucagon. C-peptide values < 1.5 ng/ml define a patient with absent pancreatic function and, above this value, patients with preserved function. When the presence of antibodies (A+) directed to the pancreas is combined to its insulin secretion capability (β+), it is possible to subdivide DM`s classification in type 1A (A+β-) and 1B (A+β-); and type 2A (A+β+) and 2B (A-β+), which allows a more precise classification and treatment besides opening horizons for the understanding of DM pathogenesis.
Due to the unfavorable prognosis of advanced stages of diabetic nephropathy (DN), the ideal approach is to identify renal involvement as early as possible. It is recommended to measure urinary albumin excretion (UAE) annually, in random urine samples, in order to detect the stages of DN [microalbuminuria (UAE 17-174 mg/l or 30-300 mg albumin/g of creatinine) and macroalbuminuria (> 174 mg/l or > 300 mg/g)]. However, it has been suggested that UAE levels below the threshold of consensus could already signal the risk for DN progression and increased mortality, indicating the need to revise cutoff values. As a substantial amount of UAE (the immunounreactive fraction), is not detected by conventional methods, HPLC would be more sensitive to identify the presence of damage by measuring total UAE (immunoreactive + immunounreactive). Another recent observation is that diminished glomerular filtration rates (GFR) occurs in the presence of normoalbuminuria. Therefore, besides evaluating UAE, it is recommended to estimate GFR with equations employing creatinine; such as the Modification of Diet in Renal Disease (MDRD) study, available at www.mdrd.com. Owing to the known limitations of creatinine, alternative endogenous markers are being studied, and cystatin-C is a promising marker under investigation. Finally, new strategies that could detect DN even earlier, include biomarkers such as proteomics, defining a profile of urinary protein excretion able to identify the subsequent risk of renal disease.
Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes mellitus characterized by autosomal dominant inheritance, early age of onset, and pancreatic beta cell dysfunction. Heterozygous mutations in at least seven genes can cause MODY. In the present study we investigated the relative prevalence of GCK (glucokinase) and HNF1α (hepatocyte nuclear factor 1α) mutations, the more frequent causes of MODY, in 13 South-Brazilian families with multiple cases of diabetes consistent with MODY. Heterozygous variants in GCK and HNF1α genes were observed respectively in one (7.7%), and six (46.2%) families. The six HNF1α variants are likely to cause diabetes in the families where they were observed. However, we could not ascertain whether the GCK Gly117Ser variant found in one family is a causal mutation.In conclusion, we have confi rmed in a South-Brazilian population that HNF1α mutations are a common cause of monogenic diabetes in adults selected with strict clinical diagnostic criteria. RESUMO Mutações HNF1α Estão Presentes na Metade dos Pacientes da Região Sul do Brasil Clinicamente Diagnosticados com MODY.O maturity-onset diabetes of the young (MODY) é uma forma monogênica de diabetes melito caracterizada por herança autossômica dominante, de instalação precoce, como disfunção da célula beta pancreática. Mutações heterozigotas em pelo menos sete genes causam MODY. No presente estudo, investigamos a prevalência relativa das mutações da GCK (glucokinase) e HNF1α (hepatocyte nuclear factor 1α), as causas mais freqüentes de MODY, em 13 famílias sul-brasileiras com múltiplos casos de diabetes consistentes com MODY. Variantes heterozigotas nos genes da GCK e HNF1α foram observadas, respectivamente, em uma (7,7%) e em seis (46,2%) famílias. As seis variantes do HNF1α provavelmente causaram o diabetes nas famílias nas quais foram observadas. No entanto, não se pode afi rmar que a variante GCK Gly117Ser encontrada em uma família seja a mutação causal. Em conclusão, confi rmamos que, em uma população do sul do Brasil, as mutações HNF1α são uma causa comum de diabetes monogênico em adultos selecionados com critérios clínicos diagnósticos estritos.
GADA testing is a helpful tool in the diagnosis of type 1 DM starting in young adults and older individuals. Even though the positivity rate declines along the course of disease, it still provides useful information up to 15 y after the diabetes diagnosis.
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