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Biomedical subjects

N Saka

Publications and source records attributed to N Saka.

30 records · Page 2Linked to original sources
PubMed1989

Heterogeneity of X-linked recessive (spino)cerebellar ataxia with or without spastic diplegia.

Ataxia with spastic diplegia was seen in seven males of a Turkish family, obviously transmitted as an X-linked recessive trait. The first clinical sign in infancy was nystagmus; ataxia and pyramidal signs were noted at age 2-3 years. Patients were never able to walk. Dysarthria, orthopedic impairment, and mild mental retardation appeared later as the disorder progressed. Death occurred in the 3rd or 4th decade from infectious diseases. The syndrome resembles X-linked spinocerebellar ataxia and X-linked spastic paraplegia in some aspects but is different if compared with previously published reports. Laboratory and neurophysiological studies showed no abnormalities. Various aspects of X-linked ataxia are discussed: genetic heterogeneity is apparent from observations reported.

Cerebral Palsy↗
PubMed1983

Alterations of chromium metabolism and effect of chromium supplementation in Turner's syndrome patients.

This study was conducted to investigate chromium metabolism and the effect of chromium supplementation in patients with Turner's syndrome, a condition noted for its high incidence of diabetes. Oral glucose tolerance tests were performed in 14 patients 8 to 19 yr of age. Eight of the 14 subjects were given 30 g of brewer's yeast containing 50 micrograms of chromium every day for 8 wk and glucose tolerance tests repeated. Urine samples were collected before and after each glucose load. Serum lipids were also investigated. Before supplementation, urinary chromium/creatinine ratio was high, and the urinary chromium response to oral glucose tolerance test was absent. Cholesterol and/or triglyceride levels were high in three of the patients. After supplementation, a decrease in urinary Cr/Cre ratio, and an improvement in glucose area index total were noted. A decrease in cholesterol and/or triglyceride levels occurred in the three patients with high initial levels as well as an increase in high-density lipoprotein cholesterol. These findings indicate a state of chromium deficiency and support the hypothesis that chromium deficiency may have a role in the pathogenesis of the abnormal glucose tolerance tests encountered in Turner patients.

Adolescent↗
PubMedDate not supplied

Brachymetacarpia V in familial short stature.

This study was planned to search for the presence of possible tubular bone abnormalities in familial short stature (FSS) as has been previously noted in some reports. Twenty-five (17 male, 8 female) children with FSS aged 10.0 SD 3.6 years were taken as the study group, and 23 (14 male, 9 female) children of normal stature aged 10.6 SD 2.7 years comprised the control group. FSS was defined as height of the child and mean parental height below 3rd centile line, normal growth velocity and bone age within 2 years of chronological age. Other causes of short stature were ruled out. Height, weight, sitting height and arm, forearm and upper arm length measurements were taken by standard methods. A left hand and wrist X-ray was taken to evaluate the length of the 5th metacarpal. Children with FSS had a significantly higher prevalence of brachymetacarpia V (64%) than the children with normal stature (21.7%) (p < 0.001). Other tubular bone parameters, however, were normal. Sitting height/height ratios were in normal ranges and comparable in FSS and the control group. Similarly arm to height and upper arm to forearm ratios were comparable in the two groups excluding disproportionate shortening of the limbs. The finding of increased incidence of brachymetacarpia V in FSS may suggest an underlying tubular bone abnormality, which may explain the short stature in FSS.

Adolescent↗
PubMedDate not supplied

Thyroid ultrasound in IDDM.

Insulin dependent diabetes mellitus (IDMM) is often associated with autoimmune thyroiditis (AIT) and a high prevalence of thyroid antibodies (TA). Ultrasound imaging of the thyroid may contribute to the evaluation of patients with AIT. We therefore investigated ultrasound findings of the thyroid in 83 IDDM patients (44F, 39M) with an age range of 2.3-22.3 yrs (median 11.1). Thyroid volume (ml) determined by ultrasound ranged between 1.3 and 17.9 (median 5.7). Thyroid volumes of 75 healthy children (32F, 43M) with an age range of 2.0 to 11.8 yrs (median 7.6) ranged between 1.6 and 13.2 ml (median 4.8) and did not show a significant difference from the IDDM group from age 4 to 12. TA were positive in 18.8% of the IDDM group. Thyroid volume was higher in TA (+) diabetics (p = 0.05), a finding which may be attributed to a higher percentage of cases with elevated TSH in the TA (+) group. Two diabetic patients showed non-homogeneous hypoechogenicity in the ultrasound compatible with AIT which was later confirmed in one of these cases by aspiration biopsy. Ultrasound imaging of the thyroid may contribute to the evaluation of patients with AIT in IDDM.

Adolescent↗
PubMedDate not supplied

Growth and puberty in thalassemia major.

Growth and sexual development were evaluated in 54 (29 female, 25 male) patients with beta-thalassemia major aged 2.7-21.3 years (mean 10.4 yr). Mean pretransfusion hemoglobin concentration was 7.8 +/- 0.7 mg/dl. All patients except 6 were on desferrioxamine. Age of starting of therapy was 6.8 +/- 3.9 years. Mean SDS values for height, weight and sitting height were significantly lower (p < 0.001) than control cases of similar age. Height deficiency exceeded -2 SD in 18 patients and a delay in bone age (> 2 SD below the mean) was observed in 36 out of 54 patients. Among 11 patients over 14 years, 9 showed delay in onset or progression of puberty and 10 had growth retardation. Height SDS were negatively correlated with chronological age, age of onset of desferrioxamine and present serum ferritin levels (p < 0.001). These findings indicate that abnormal growth and delayed puberty are frequent in transfusion dependent thalassemics. These can be partly overcome by early onset of chelating therapy.

Adolescent↗
PubMedDate not supplied

Long-term diazoxide treatment in persistent hyperinsulinemic hypoglycemia of infancy: a patient report.

Long-term diazoxide and somatostatin analogue have been used in the treatment of persistent hyperinsulinemic hypoglycemia of infancy albeit with some side effects. We report a case with persistent hyperinsulinemic hypoglycemia who has been on diazoxide therapy for 4.5 years. Diazoxide treatment maintained normoglycemia without causing any side effects, including hypertrichosis.

Blood Glucose↗
PubMedDate not supplied

Successful therapy with calcium channel blocker (nifedipine) in persistent neonatal hyperinsulinemic hypoglycemia of infancy.

The appropriate management of persistent hyperinsulinemic hypoglycemia of infancy (PHHI) still remains controversial. Some patients show a response to treatment with diazoxide or somatostatin, but a number of children require total or near-total pancreatectomy to control hyperinsulinism. Recent studies suggest a dysfunction in the adenosine triphosphate-sensitive potassium channel present in the plasma membrane of pancreatic beta-cells in PHHI. The closure of these channels initiating the depolarization of the beta-cell membrane and opening of calcium channels results in an increase in intracellular calcium which triggers insulin secretion. A calcium channel blocking agent has been shown to block this process and decrease insulin secretion of the nesidioblastotic beta-cells in vitro and to control the hyperinsulinemic hypoglycemia of the patient in vivo. To examine the efficacy of calcium channel blocker therapy, three patients with PHHI were treated with nifedipine. PHHI was diagnosed by inappropriately high insulin levels for low blood glucose levels at 8-10 days of age. Normoglycemia was maintained by a high dose of glucose infusion at a rate of 14-16 mg/kg/min. Therapy using diazoxide and/or somatostatin analogue failed to restore euglycemia in these three patients. The first patient underwent near-total pancreatectomy; however, hyperinsulinism recurred 30 days after surgery. All patients were started on short acting nifedipine at a dose of 0.3 mg/kg/day per os in four doses. To maintain blood glucose levels in normal ranges, the dose of nifedipine was progressively increased to 0.7-0.8 mg/kg/day. Glucose infusion rate to restore euglycemia decreased and was discontinued on the 4th to 10th day of nifedipine treatment. The patients, who have now been followed on nifedipine therapy for over 12 months, are normoglycemic with normal insulin levels. The growth and neuromotor development of the patients are unremarkable except for mild developmental delay of the patient who underwent near-total pancreatectomy. No side effects were encountered at the doses used. In conclusion, calcium channel blocking agents can be used with efficacy and safety in PHHI to control the hyperinsulinemia.

Calcium Channel Blockers↗
PubMedDate not supplied

Glucocorticoid receptors in patients with congenital adrenal hyperplasia.

To determine the glucocorticoid receptor (GC-R) status in congenital adrenal hyperplasia (CAH) we examined 11 patients (5 female, 6 male) with 21-hydroxylase deficiency and 3 patients (2 female, 1 male) with 11beta-hydroxylase deficiency. The mean age at investigation was 8.9+/-3.5 yr. Age of diagnosis was 4.4+/-3.2 yr and all patients were being treated with hydrocortisone. The control group included 10 (5 female, 5 male) age-matched healthy children. Blood samples were drawn at 0800 a.m. after an overnight fast in all subjects and after 5 days off treatment in patients with CAH. Serum cortisol (in all children), and serum 17-hydroxyprogesterone and androstenedione (in the patient group) were measured by radioimmunoassay. Mononuclear leukocytes were isolated from peripheral blood and the binding of [3H]dexamethasone to GC-R was examined. GC-R number and the dissociation constant (Kd), which is inversely proportional to its binding affinity, were determined. Mean GC-R numbers were 5814+/-1574 and 6816+/-1647; mean Kd values were 3.6+/-1.5 nM and 4.2+/-0.7 nM in patient and control groups, respectively. There were no significant differences in these parameters between the two groups. Neither receptor number nor binding affinity correlated with basal serum cortisol levels in either group. In the patient group, no correlation was observed between replacement hydrocortisone doses and either morning serum cortisol levels or GC-R number. The higher binding affinity and requirement of higher hydrocortisone dose might have been due to a compensatory response to increased clearance of glucocorticoids. In conclusion, GC-R parameters are not changed in patients with CAH and the variability of glucocorticoid replacement doses may be related to other functional defects of GC-R and glucocorticoid pharmacokinetics.

17-alpha-Hydroxyprogesterone↗