Head circumference of children with Williams-Beuren syndrome

Head circumference is considered an important parameter of brain growth and development. Syndrome-specific standards for head circumference in Williams-Beuren syndrome (WBS) are not available to date, although mental retardation is a leading manifestation in the syndrome. Therefore, we investigated head growth in 63 girls (251 measurements) and 88 boys (298 measurements) with WBS between birth and adulthood. Most measurements in both sexes were from the first 4 years of life (n = 162 in girls and n = 189 in boys). Mean (±SD) head circumference at birth was 33.39 ± 1.38 cm and 34.02 ± 1.44 cm for term girls and boys, respectively. Although head growth in WBS girls and boys was at a slower velocity, the pattern of head circumference was similar to that in the normal population. After the age of 3 months, head circumference started to fall below the normal mean in girls (0.5–2 cm). In boys, mean head circumference was below the normal mean already at 1 month of age (2 cm). The deficit increased to 3 cm from 6 months to 4 years. Adult OFC was 52.85 ± 1.75 cm (n = 16) compared to 55.70 ± 1.83 cm (n = 46; P < 0.00001) in WBS women and 55.51 ± 1.68 cm (n = 30) compared to 57.87 ± 1.29 cm (n = 31; P < 0.00001) in WBS men. During development, microcephaly is only seen in about one third of WBS patients. © 1994 Wiley-Liss, Inc.     

Dermatoglyphic peculiarities in patients with Williams-Beuren syndrome

The dermatoglyphic patterns of fingertips and palms of 115 patients with Williams-Beuren syndrome (WBS) were analysed and compared with the data from 199 control individuals from Germany. The following combination of dermatoglyphic patterns appears to be characteristic to WBS: an excess of whorls on all fingertips; high termination values of the main lines D, B, and A; frequent absence of C triradius (C°); high frequencies of ulnar loops on the hypothenar and distal loops on the 2nd, 3rd, and 4th inter digital areas, of distal axial triradii t", and of abnormal palmar creases such as simian crease and Sydney lines. The combination of fingertip and palmar patterns expressed by a “Log.Score-Index,” provides a high degree of discrimination between the WBS patients (92%) and the control group (88%). A “phantom picture” for WBS was constructed, which can be used for its diagnosis. © 1994 Wiley-Liss, Inc.     

Dietary salt and blood pressure

Research evidence on the role of dietary sodium in the etiology and pathogenesis of hypertension is briefly reviewed. This matter is assuming new importance at present, given new data on the efficacy of normalization of blood pressure for adults with so-called "mild" hypertension (average diastolic 90-104 mm Hg), hence the need for safe nutritional-hygienic alternatives to years-long drug treatment for millions of people with such hypertension. Two trials by the authors deal with some unresolved questions in this area. The first, a preliminary study, involved 21 lacto-ovo-vegetarian high school students living in a boarding school. With decrease in daily Na intake from 216 to 72 meq for the experimental compared with the control group, red blood cell Na concentration was significantly lower in the former; systolic pressure was slightly but not significantly lower. The second trial, the Primary Prevention of Hypertension, involves over 200 hypertension-prone persons aged 30-44, and explores the ability in the experimental group to reduce blood pressure and prevent development of hypertension by safe nutritional-hygienic means (weight reduction, dietary Na decrease, avoidance of excess alcohol, rhythmic exercise). Initial results at 6 months are presented. Trials on the prevention and control of hypertension by nonpharmacologic means, including reduced Na intake, and involving analyses of the inter-relationships among dietary Na, other dietary factors, Na metabolism, and blood pressure in samples from different population strata, are an important present-day research need.     

Digitalis und Theophyllin

Digitalis and theophylline are some of the oldest drugs used to treat cardiopulmonary diseases. Despite a long history, the evidence for both drugs is still inconsistent, in parts negative. In this context, geriatric medicine represents a special area of conflict. On the one hand, both drugs may play a role in the treatment of advanced heart failure and chronic obstructive pulmonary disease, particularly in the treatment of symptoms. On the other hand, both drugs are often listed as potentially inappropriate medications for the elderly. This paper discusses the evidence for both drugs based on the current literature.     

Osteoporotic treatment options in geriatric patients

Due to the demographic changes of the last few decades, there has been a significant increase in the number of osteoporotic fractures. After a fracture, geriatric patients are at particularly high risk for an increase of their functional impairments as well as a loss of independence and quality of life. In spite of the severe medical and socioeconomic consequences of fragility fractures, osteoporotic treatment and prevention are still insufficient. Based on the current literature, the pharmacological and nonpharmacological treatment options as well as new surgical techniques for geriatric patients are reviewed.     

Management und Therapie des Vorhofflimmerns beim geriatrischen Patienten

Among geriatric patients, atrial fibrillation is the most common cardiac arrhythmia. In patients over 80?years of age, the prevalence rises to approximately 10%. Atrial fibrillation is associated with serious health implications, including a 2-fold increase in mortality risk and a 5-fold increase in stroke risk. In contrast to these facts, the current guidelines on the management of atrial fibrillation of the European Society of Cardiology (ESC) contain only a short paragraph on these patients. Many relevant clinical aspects go without any comment. Thus, the purpose of our paper is to discuss those special needs of geriatric patients and their physicians which are not mentioned in the guidelines of the ESC. In our review, we discuss rhythm versus rate control, oral anticoagulation, outcome, prevention, falls, adherence, polypharmacy, dementia, nursing home patients, frailty, and geriatric assessment in consideration of geriatric patients. An extended search of the literature on Pubmed served as the basis for this review. Individual aspects of each geriatric patient should be considered when managing these complex patients; however, the complexity of each case must not lead to an individualized therapy that is not in accordance with current guidelines and the literature. A large number of papers which help us to answer most of the clinical questions regarding the management of trial fibrillation in geriatric patients have already been published.