JEJUNAL MUCOSA IN INFANTILE MALNUTRITION

Twenty-six infants with malnutrition and seven controls were studied by routine haematological tests, serum protein levels, glucose tolerance and D-Xylose absorption tests, jejunal biopsies and intestinal disaccharidase, assays. In conclusion, it can be said that in malnutrition the jejunal mucosa shows some mild or non-specific histologic changes compatible with malabsorption, which may be reversible. No correlation could be shown between these changes and absorption tests. Malnutrition may also result in secondary intestinal disaccharidase deficiencies which improve with correction of the nutritional state. These secondary enzyme deficiencies may be responsible for some of the diarrhoeas seen in marasmic children. No direct correlation between anaemia, iron-deficiency, folic acid levels, protein deficiency and intestinal mucosal changes could be established in this study.     

Bencyclane as an anti-sickling agent

A vasodilating Ca²⁺ channel blocker, bencyclane, was used in 18 patients with homozygous sickle cell anaemia (SCD) to test the possible anti-sickling effect. With bencylane intervention the Na⁺-K⁺ ATPase activity increased from 256±29 to 331±37 nmol Pi/mg protein/h ( P <0.0001) and the Ca²⁺-Mg²⁺ ATPase level increased from 172±12 to 222±44 nmol Pi/mg protein/h ( P <0.0001). The intracytoplasmic Ca²⁺ concentration reduced from 3.5±0.6 to 2.7±0.25 μmol/l ( P <0.0001). The patient's blood contained fewer irreversibly sickled cells (ISCs) (a reduction from 21.4% to 14.4%) ( P <0.05). At the same time MCHC of the erythrocytes decreased from 34.5 to 33.0 g/dl ( P <0.05). Bencyclane appears to be a promising anti-sickling agent that can be used orally in SCD.     

OCULODENTODIGITAL DYSPLASIA SYNDROME

A 23-month-old boy with typical findings of oculodentodigital dysplasia syndrome was presented and the inheritance pattern of this syndrome was discussed.     

THE RADIAL DYSPLASIA/IMPERFORATE ANUS/VERTEBRAL ANOMALIES SYNDROME (THE VATER ASSOCIATION): DEVELOPMENTAL ASPECTS AND EYE FINDINGS

Abstract Say, B., Greenberg, D., Harris, R., DeLong, S. L. and Coldwell, J. G. (Department of Developmental Medicine & Child Neurology, Children's Medical Center, Tulsa, Oklahoma, USA). The radial dysplasia/imperforate anus/vertebral anomalies syndrome (the VATER association): developmental aspects and eye findings. Acta Paediatr Scand 66: 233, 1977.—The developmental evaluations of four children of different age groups with radial dysplasia/imperforate anus/vertebral anomalies syndrome are presented. These show that although the gross motor behavior is significantly delayed, intelligence, language, and social development are within normal range. Therefore, the patients with this syndrome merit every effort toward rehabilitation. Three of the patients discussed have ophthalmological abnormalities, in addition to their major malformations. It may be that congenital eye defects are another component of this syndrome of morphogenesis.     

THE CAT-EYE SYNDROME WITH UNUSUAL SKELETAL MALFORMATIONS

ABSTRACT. Balci, S., Halicioglu, C., Say, B. and Taysi, K. (Department of Pediatrics and Division of Clinical Genetics, Hacettepe University, Ankara, Turkey). The cat-eye syndrome with unusual skeletal malformations. Acta Paediatr Scand, 63: 623, 1974.—A fifteen day old female infant with anal atresia, rectovaginal fistula, short left forearm and agenesis of the left thumb is presented. In addition, the patient had a small, extra chromosome which was associated with D or G group chromosomes. The skeletal survey revealed aplasia of the first rib on the right as well as aplasia of the radial bone, first metacarp and thumb on the left. These radiological findings associated with the cat eye syndrome have not been reported previously.     

Heart Rate Recovery and Chronotropic Incompetence in Patients with Subclinical Hypothyroidism

Background: Heart rate recovery (HRR) and chronotropic incompetence (CI) in patients with subclinical hypothyroidism (SCH) has not been explored previously. The aim of the present study was to evaluate the HRR and CI in patients with SCH.
Methods: Twenty-five patients (11 men, 14 women with a mean age of 36 ± 10 years) who were diagnosed SCH determined by an increased serum thyrothrophine (TSH) concentration (>4.0 ng/mL) and the normal free triiodothyronine (fT3) and free thyroxin (fT4) levels, were included in the study. The control group of healthy individuals with normal TSH (12 males, 15 females) with a mean age of 36 ± 3 years was also included. Two groups were well matched for age, sex, and body mass index. Medical history, physical examination, electrocardiogram, treadmill exercise testing, and chest radiogram were performed for all participants.
Results: The characteristics of SCH patients and control cases were similar with regard to age, sex, and BMI except for TSH levels. Serum TSH levels were significantly higher in SCH patients than the controls (P < 0.001). No significant differences were observed in the changes of heart rate (HR), exercise tolerance (metabolic equivalents) , or systolic and diastolic blood pressures at rest or during exercise between the groups, whereas HRR and CI were significantly lower during exercise testing in the SCH patients compared to controls (P < 0.003; P < 0.03, respectively).
Conclusion: The results of the present study demonstrated that SCH can cause impaired cardiovascular autonomic function and attenuated HR response to exercise. (PACE 2010; 2–5)     

A NEW SYNDROME OF DYSMORPHOGENESIS: IMPERFORATE-ANUS ASSOCIATED WITH POLY-OLIGODACTYLY AND SKELETAL (MAINLY VERTEBRAL) ANOMALIES

Nine patients having imperforate anus and hand malformations with or without vertebral anomalies have been presented. The similarity of the findings in these patients to those seen among the members of the luxoid group of mouse mutants, such as the dominant hemimelia (Dh) mutants has been emphasized. Similar cases reported in the literature have been briefly reviewed.     

THREE SIBLINGS WITH ATYPICAL MUCOPOLYSACCHARIDOSIS

Three siblings with mucopolysaccharidoses are presented. They were found to excrete der-matan sulfate and heparan sulfate, and had specific bony changes without any physical or mental retardation. These features were compared with those of other known cases of mucopolysaccharidoses.