Biomedical subjects

B Filipović-Grcić

Publications and source records attributed to B Filipović-Grcić.

9 recordsLinked to original sources

PubMed1998

Nevo syndrome.

We report on a patient with Nevo syndrome manifesting intrauterine and postpartum overgrowth, accelerated osseous maturation, dolichocephaly, highly arched palate, large, low-set ears, cryptorchidism, delayed neuropsychological development, hypotonia, adema, contractures of the hands and feet, a single a transverse palmar crease, and tapering digits. After meningococcal sepsis at age 6 months, he remained decerebrate. Thereafter, overgrowth and especially weight gain were extremely accelerated until his death at age 18 months, at which time his height was 103 cm and his weight was 23 kg. In addition to low plasma concentrations of growth hormone and insulin-like growth factor, severe insulin resistance was observed. It is presumed that a selective defect in insulin-stimulated glucose uptake, with preservation of anabolic effect, was one of the causes of his "overgrowth without growth hormone," at least in the last 12 months of life after severe brain damage.

Blood Glucose↗

PubMed1996

Risk factors for expression and progression of limited joint mobility in insulin-dependent childhood diabetes.

We studied the prevalence of limited joint mobility (LJM) in 100 diabetic children and 100 non-diabetic controls. Our objective was to find possible predictors for the expression and progression of LJM and to evaluate the relationship between LJM and other long-term complications of insulin-dependent diabetes mellitus. LJM was present in 36% of diabetic patients aged 2-20 years. It was significantly related to duration of disease and longitudinal glycated haemoglobin (HbA1c) concentrations, pubertal stage, number of ketoacidosis and skin changes. Fourteen patients had peripheral neuropathy, 16 had microalbuminuria, 8 had nephropathy, and 7 had retinopathy. After matching for duration of disease, HbA1c concentrations and pubertal stage, a comparison of the complication rates was made. All long-term complications were significantly associated with LJM. Longer duration of disease and higher mean longitudinal glycated haemoglobin level are independent predictors for expression of LJM. Thus, improvement of metabolic control in diabetic patients before puberty may diminish the expression and progression of LJM.

Adolescent↗

PubMed1995

[Paracetamol poisoning--case report].

A case of paracetamol poisoning in 17-month-old girl is presented. Clinical features and therapeutic procedures are described. Differences in paracetamol metabolism between children and adults are compared. Differences in the incidence of paracetamol poisoning between Croatia and USA are surveyed. The role of a physician in the education of parents and medical stuff on paracetamol toxicity is emphasized.

Acetaminophen↗

PubMed1993

Bilateral gonadoblastoma in a 9-month-old infant with 46,XY gonadal dysgenesis.

A 9-month-old infant with hypertrophic clitoris and separated urethral and vaginal opening was diagnosed as having 46,XY incomplete "pure gonadal dysgenesis". Examination of both gonads revealed gonadoblastoma and bilateral salpingo-gonadectomy and partial hysterectomy were performed. Patient is raised as a girl, and clitoroplasty will be done in next several months. The fact that gonadal neoplasia in our patient was found already at the age of 9 months, confirms the need for gonadectomy at the time of diagnosis in the patients with 46,XY gonadal dysgenesis.

Clitoris↗

PubMedDate not supplied

[Home artificial respiration in a girl with Ondine-Hirschsprung syndrome (Haddad's syndrome)].

A case of 5.5-year-old girl with Haddad syndrome (congenital central hypoventilation syndrome-CCHS or Ondine's curse and Hirschsprung's disease) is presented. At the age of 1.5 months, due to severe colonic aganglionosis, temporary colostomy was performed. At the age of 4.5 years the sigmoid colon and left colon were resected and temporary colostomy was closed. Since birth, the sleep central hypoventilation characterized with shallow respirations and frequent apnoeas was noticed. The child's life was compromised and therefore the postoperative recovery was complicated and prolonged. Cardiac exam showed initial signs of pulmonary hypertension and right-sided failure. At the age of 4.5 years assisted positive pressure ventilation via face mask, with transportable ventilator was initiated during sleep and was successfully performed at home. Since then the cardiac exam showed no abnormalities. There are no significant abnormalities at neurological exam while EEG shows minimal irritative changes. The girl's physical and psychomotoric development is progressive and she is having an excellent peer contact. We expect even better quality of life after the implantation of the diaphragmatic pacemaker which is planned at early school age.

Child, Preschool↗

PubMedDate not supplied

[Stenotrophomonas maltophilia as a cause of hospital infections--typing of clinical isolates using pulsed field gel electrophoresis] ].

Stenotrophomonas maltophilia (S. maltophilia) has been recognised now as an important cause of hospital infections. As S. maltophilia is resistant to many antibiotics, attempts have been made to identify the sources of S. maltophilia infection and route of its transmission. From July till October 1998, 22 isolates of S. maltophilia were obtained from 20 patients hospitalised at eight different wards. Strain typing was performed by macrorestriction analysis of chromosomal DNA by use of PFGE (XbaI and SpeI enzymes, in a CHEF DR III drive module). PFGE analysis of 22 S. maltophilia isolates revealed 9 different types designated by letters A to I. The source and route of the spread of infection could not be identified. These results may indicate that we had clusters of S. maltophilia infection in cardiosurgery ward and ICU by types A, B, C and D; in neurosurgical ICU by type E and in urology ICU by type H.

Bacterial Typing Techniques↗

PubMedDate not supplied

[Chronic autoimmune thyroiditis in patients with Turner's syndrome].

Studies concerning adult female patients with Turner's syndrome demonstrated that the impairment of the thyroid function is more often found in these patients than in the general female population. This is primarily related to a greater frequency of autoimmune thyroid diseases. Thyroid function was studied in a group of 23 female patients with Turner's syndrome, aged 7 to 24 years. Mean age was 15.6 years. Twelve patients had the karyotype 45X, three had mosaics 45X/46XX, one had the karyotype 45X/47XXX, while 7 had different structural X chromosome anomalies. They were all clinically euthyroid, except one which had plasma thyroxine (T4) values somewhat lower, and three which had plasma thyroid-stimulating hormone (TSH) concentrations somewhat higher than normal levels which could correspond to the so-called "subclinical" or "compensated" hypothyroidism. Elevated thyroid autoantibodies (TAA) were found in nine patients, whereas only two of these patients had goiter, simultaneously. It may perhaps be concluded that in female patients with Turner's syndrome, the atrophic form of autoimmune thyroiditis is more frequent than that associated with goiter (Hashimoto's thyroiditis), the latter being more prevalent in younger age groups in the general population. In view to the possible progression to hypothyreosis and the need for substitution therapy, the necessity of regular thyroid function follow-up especially in patients with positive TAA titers is emphasized. This is particularly important in female patients of younger age who are still in their growth and development period and in whom low thyroid hormone concentrations may lead to even greater growth retardation which is already compromised with the principal disease.

Adolescent↗

PubMedDate not supplied

[The Dubowitz syndrome].

A 27-month-old girl with Dubowitz syndrome, a rare autosomal recessive disorder, is presented. The diagnosis was established by a series of symptoms typical for this syndrome: intrauterine and postnatal growth retardation, microcephaly, recurrent diarrhea and respiratory infections, characteristic craniofacial anomalies such as epicanthus, nasal dysplasia with broad nasal bridge in line with forehead, thin hair, micrognathia, large mouth, dysplastic ears, brachyclinodactyly, pectus excavatum and pilonidal sinus. Hyperactivity in behaviour was obvious, and she had a very high pitched voice. Sacral cleft and wide opened frontal fontanelle found in our patient could be new signs, not yet seen in this syndrome. Necessity of regular follow-up of these patients is stressed due to the rather high incidence of malignant diseases and diseases of the hematopoetic system, respectively.

Abnormalities, Multiple↗

PubMedDate not supplied

[X-linked adrenoleukodystrophy--2 case reports].

Cases of a ten-year-old boy with childhood cerebral adrenoleukodystrophy (ALD) and a 22-year-old youngster with adrenomyeloneuropathy (AMN) are reported. ALD is an inherited, X-linked perixisomal disorder associated with the accumulation of very long chain fatty acids (VLCFA). Neurological symptoms occur due to progressive demyelination and destruction of cerebral white matter and primary adrenal insufficiency. The boy with ALD manifested neurological signs (impaired spatial orientation, visual disturbances, poor handwriting, seizures). Latent primary adrenal insufficiency was established, and successfully treated by gluco- and mineralocorticoids. Lorenzo's oil (mixture of glyceroltrioleate:glyceroltrierucate 4:1) treatment significantly reduced elevated concentrations of VLCFA, but in spite of that, neurological symptoms progressed and the boy died a year after the initial clinical presentation of the disease. The boy with AMN revealed primary adrenal insufficiency at the age of 15 years. AMN was suspected when hair and eyebrows loss occurred and the diagnosis was established due to elevated VLCFA levels in the serum at the age of 22 years. On examination no neurologic signs of the disease could be detected. Adrenal insufficiency is well controlled by gluco- and mineralocorticoids. In addition to the previously described two women who were symptomatic heterozygotes we now also report on two patients with ALD and AMN. The patients reported are the first four with this peroxisomal disorder described in Croatia so far. Probably a great number of such patients remains unrecognised. Therefore, it is necessary to measure the serum VLCFA levels in males with primary adrenal insufficiency, and in those with signs of progressive central demyelination and destruction of cerebral white matter accompanied by neurological symptoms of unknown etiology.

Adrenoleukodystrophy↗