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4.
Clin Genet ; 89(4): 501-506, 2016 Apr.
Article in English | MEDLINE | ID: mdl-26497935

ABSTRACT

SHORT syndrome has historically been defined by its acronym: short stature (S), hyperextensibility of joints and/or inguinal hernia (H), ocular depression (O), Rieger abnormality (R) and teething delay (T). More recently several research groups have identified PIK3R1 mutations as responsible for SHORT syndrome. Knowledge of the molecular etiology of SHORT syndrome has permitted a reassessment of the clinical phenotype. The detailed phenotypes of 32 individuals with SHORT syndrome and PIK3R1 mutation, including eight newly ascertained individuals, were studied to fully define the syndrome and the indications for PIK3R1 testing. The major features described in the SHORT acronym were not universally seen and only half (52%) had four or more of the classic features. The commonly observed clinical features of SHORT syndrome seen in the cohort included intrauterine growth restriction (IUGR) <10th percentile, postnatal growth restriction, lipoatrophy and the characteristic facial gestalt. Anterior chamber defects and insulin resistance or diabetes were also observed but were not as prevalent. The less specific, or minor features of SHORT syndrome include teething delay, thin wrinkled skin, speech delay, sensorineural deafness, hyperextensibility of joints and inguinal hernia. Given the high risk of diabetes mellitus, regular monitoring of glucose metabolism is warranted. An echocardiogram, ophthalmological and hearing assessments are also recommended.

6.
J Eur Acad Dermatol Venereol ; 23 Suppl 2: 1-70, 2009 Oct.
Article in English | MEDLINE | ID: mdl-19712190

ABSTRACT

Of the 131 studies on monotherapy or combination therapy assessed, 56 studies on the different forms of phototherapy fulfilled the criteria for inclusion in the guidelines. Approximately three-quarters of all patients treated with phototherapy attained at least a PASI 75 response after 4 to 6 weeks, and clearance was frequently achieved (levels of evidence 2 and 3). Phototherapy represents a safe and very effective treatment option for moderate to severe forms of psoriasis vulgaris. The onset of clinical effects occurs within 2 weeks. Of the unwanted side effects, UV erythema from overexposure is by far the most common and is observed frequently. With repeated or long-term use, the consequences of high, cumulative UV doses (such as premature aging of the skin) must be taken into consideration. In addition, carcinogenic risk is associated with oral PUVA and is probable for local PUVA and UVB. The practicability of the therapy is limited by spatial, financial, human, and time constraints on the part of the physician, as well as by the amount of time required by the patient. From the perspective of the cost-bearing institution, phototherapy has a good cost-benefit ratio. However, the potentially significant costs for, and time required of, the patient must be considered.


Subject(s)
Psoriasis/drug therapy , Adalimumab , Alefacept , Antibodies, Monoclonal/adverse effects , Antibodies, Monoclonal/therapeutic use , Antibodies, Monoclonal, Humanized , Cyclosporine/adverse effects , Cyclosporine/therapeutic use , Dermatologic Agents/adverse effects , Dermatologic Agents/therapeutic use , Etanercept , Humans , Immunoglobulin G/adverse effects , Immunoglobulin G/therapeutic use , Infliximab , Methotrexate/adverse effects , Methotrexate/therapeutic use , PUVA Therapy/adverse effects , Receptors, Tumor Necrosis Factor/therapeutic use , Recombinant Fusion Proteins/adverse effects , Recombinant Fusion Proteins/therapeutic use , Retinoids/adverse effects , Retinoids/therapeutic use
7.
Blood Press ; 9(6): 323-7, 2000.
Article in English | MEDLINE | ID: mdl-11212060

ABSTRACT

OBJECTIVE: To determine the factors influencing general practitioners' prescribing for patients with moderate hypertension, and to investigate their ability to assess patients' absolute risk of cardiovascular disease. DESIGN: Decision-making was assessed by a postal questionnaire involving five standardised example patients, send to all general practitioners in the CB-postcode area (Cambridge, UK). Patients varied in age, gender, diabetic and smoking status, blood pressure and total cholesterol, giving 5-year absolute risks ranging from less than 5% to greater than 20%. GP treatment decisions and risk factor influence, age bias, absolute risk calculations and cost-awareness were analysed with SPSS. Absolute risk was calculated using the New Zealand Core Services Committee (NZCSC) Guidelines, 1995. RESULTS: GP response rate was 66%. Sample demographics (mean age 42 years, 39% female) did not differ statistically from local health authority data. High blood pressure alone was the most common reason for instituting therapy (67%), independent of other risk factors. Drug choices did not differ statistically from Prescription Pricing Authority data. This supports the validity of the questionnaire. GP estimations of absolute risk were inconsistent, and there was a significant association between underestimation of elderly patient risk and overestimation of younger patient risk (p = 0.05). CONCLUSIONS: The Cambridge GPs more frequently based treatment decisions on patients' blood pressure level alone, rather than considering absolute risk as recommended by NZCSC and WHO guidelines. The relationship between patient age and risk estimations may indicate a "young age premium" influencing treatment. The data support the need for risk-based guidelines and education in treatment of hypertension.


Subject(s)
Decision Making , Hypertension/drug therapy , Adult , Age Factors , Blood Pressure , Data Collection , Female , Humans , Male , Middle Aged , Physicians, Family , Practice Guidelines as Topic/standards , Risk Assessment/methods
8.
Br J Dermatol ; 140(2): 195-9, 1999 Feb.
Article in English | MEDLINE | ID: mdl-10733266

ABSTRACT

Phototherapy is a popular and effective treatment for many patients with skin diseases. However, repeated journeys to hospital for phototherapy can be inconvenient and expensive. If it were available, many patients might prefer home-based phototherapy as long as it was safe and effective. Indeed, many psoriasis patients already self-treat with ultraviolet A sunbeds at home. This report represents a consensus view from a British Photodermatology Group workshop held in December 1996, the purpose of which was to examine the potential role of home-based phototherapy in dermatological practice. We conclude that home-based therapy represents a suboptimal treatment with greater attendant risks than phototherapy in a hospital environment. The level of medical supervision of the home treatment is crucial to its safety and effectiveness. Until further studies are forthcoming, home phototherapy should be largely restricted to those with overwhelming difficulties in attending hospital.


Subject(s)
Home Care Services , Phototherapy , Skin Diseases/radiotherapy , Ultraviolet Therapy/methods , Home Care Services/legislation & jurisprudence , Humans , Psoriasis/radiotherapy , Psoriasis/therapy , Skin Diseases/therapy , Ultraviolet Therapy/instrumentation
10.
Lancet ; 1(8127): 1189, 1979 Jun 02.
Article in English | MEDLINE | ID: mdl-86908
11.
Lancet ; 1(8126): 1146, 1979 May 26.
Article in English | MEDLINE | ID: mdl-86869
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