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Biomedical subjects

H Mocan

Publications and source records attributed to H Mocan.

At least 37 records · Page 2Linked to original sources
PubMed1997

Pyknodysostosis: hemangioma of the skull as a new finding.

Pyknodysostosis is a rare sclerosing bone dysplasia syndrome with autosomal recessive inheritance. Here, we report a case of pyknodysostosis, with characteristic physical and radiological findings, but also with a hemangioma of the skull, as a non reported finding sofar.

Adult↗
PubMed1997

Multiple vertebral segmentation defects. Brief report of three patients and nosological considerations.

Multiple vertebral segmentation defects i.e. multiple malformations of vertebrae and ribs are characterized by short neck, scoliosis, short trunk and deformity of the ribcage. There are three major subtypes; Jarcho-Levin syndrome, spondylothoracic dysostosis and spondylocostal dysostosis, with different inheritance patterns, survival rates and associated malformations. We describe three cases of multiple vertebral segmentation defects, two with familial spondylothoracic dysostosis and one with sporadic spondylothoracic dysostosis, and anomalies i.e. super-numerary breast, clubfeet deformity, myelomeningocele, intradural lipoma, and Arnold-Chiari malformation.

Abnormalities, Multiple↗
PubMed1996

Relationships between serum free fatty acids and zinc, and attention deficit hyperactivity disorder: a research note.

The purpose of this study is to evaluate the relationships between serum free fatty acids (FFA) and zinc, and attention deficit hyperactivity disorder (ADHD). Forty eight children with ADHD (33 boys, 15 girls) were included in the patient group and 45 healthy volunteer children (30 boys, 15 girls) constituted the control group. The mean serum FFA level in the patient group was 0.176 +/- 0.102 mEq/L and in control group, 0.562 +/- 0.225 mEq/L (p < .001). The mean serum zinc level of patient group was 60.6 +/- 9.9 micrograms/dl and that of the control group, 105.8 +/- 13.2 micrograms/dl (p < .001). A statistically significant correlation was found between zinc and FFA levels in the ADHD group. These findings indicate that zinc deficiency may play a role in aetiopathogenesis of ADHD. Although we observed decreased FFA levels in ADHD cases, it is necessary to determine whether this condition is a principal cause of ADHD or is secondary to zinc deficiency.

Attention Deficit Disorder with Hyperactivity↗
PubMed1996

The role of high dose methylprednisolone and splenectomy in the accelerated phase of Chédiak-Higashi syndrome.

The Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency disorder. Some cases with CHS develop the accelerated phase characterized by pancytopenia, high fever and lymphohistiocytic infiltration of liver, spleen and lymph nodes. The treatment of the accelerated phase of CHS is difficult. We describe a case with CHS in the accelerated phase who had multiple polyposis and pulmonary infiltration that was probably due to involvement of CHS. She was successfully treated with high-dose methylprednisolone at her first admission. At her second admission, splenectomy was performed to remove hypersplenism, and her clinical, radiological and hematological findings improved significantly.

Chediak-Higashi Syndrome↗
PubMed1996

A retrospective analysis of adolescent pregnancies.

Pregnancy in adolescence has been and continues to be a problem in public health. A retrospective study of 562 mothers, 18 years of age and below, was carried out. This study has shown a high incidence of preeclampsia (9.9%), low birth weight infants (17.2%), and preterm delivery (9.3%). It is imperative to institute a medical and educational survive with comprehensive prenatal care for adolescent mothers in order to improve the outcome of their pregnancies.

Adolescent↗
PubMed1996

Campomelic dysplasia associated with mandibular clefting.

Campomelic dysplasia (CD), is a lethal dwarfism of the newborn, characterised by rhizomelic dwarfism, bowed femora and tibiae, associated with other skeletal and extraskeletal defects. It is suggested that there are long-limbed and short-limbed varieties. Various clinical and radiological anomalies have been described in both types of CD. Here, we describe for the first time a cleft in the mandibula in a patient with campomelic dysplasia.

Abnormalities, Multiple↗
PubMed1996

Serum interleukin-1 and granulocyte-macrophage colony-stimulating factor levels in protein malnourished patients during acute infection.

OBJECTIVE: To investigate the response of serum interleukin-1 (IL-1) and granulocyte-macrophage colony-stimulating factor (GM-CSF) to infection of malnourished patients. DESIGN: Prospective observational study. SETTING: Paediatric clinics of Karadeniz Technical University, Faculty of Medicine, Trabzon, Turkey. SUBJECTS: 13 protein-depleted (kwashiorkor marasmic kwashiorkor), 15 marasmic nutritionally repleted kwashiorkor (NRK), and 12 well-nourished control subjects. INTERVENTIONS: Clinical and laboratory data, and serum IL-1 and GM-CSF levels during acute infections were examined. MAIN OUTCOME MEASURES: White blood cell count, pc of circulating neutrophils (%PNL), serum total protein, albumin (ALB), IL-1 and GM-CSF levels. RESULTS: Fever, pcPNL, serum IL-1 and GM-CSF levels of kwashiorkor patients were lower than those of marasmic and control patients (p < 0.005). Fever, neutrophil pc(PNLpc), serum IL-1 and GM-CSF levels of NRK patients during further acute infection were not significantly different from those of marasmic and control patients, but higher than those of the kwashiorkor patients. Although there were positive correlations between serum IL-1 and ALB levels (r = 0.922, p < 0.001), and between serum GM-CSF and ALB levels (r0.730, p = 0.005) in the kwashiorkor group, there were not significant correlations between the same parameters in the other groups (r < 0.5, p > 0.05). And also, although there was not significant correlations between PNL% and IL-1 levels in the kwashiorkor group (r0.312, p = 0.299), there were significant positive correlations between the same parameters in the other groups (r < 0.5, p > 0.05). However, significant positive correlations were found between fever and IL-1 levels, and between IL-1 and GM-CSF levels in all groups (r > 0.5, p < 0.05). CONCLUSION: The responses of serum IL-1 and GM-CSF to acute infection of kwashiorkor patients are defective, and nutritional-repletion therapies restore the production of these cytokines.

Acute Disease↗
PubMed1995

Effect of essential amino acid supplementation in acute renal failure.

The effect of intravenous (i.v.) essential amino acids (EAA) in the treatment of acute renal failure was evaluated in 50 patients. Thirty patients (Group A) received daily 13.4 g of i.v. EAA solution [Nephramine (Don Baxter, McGraw) 250 ml/d]+dopamine i.v. 2 micrograms/kg/min + 20% hypertonic glucose solution 500 ml/d as compared with twenty patients (Group B) who received dopamine i.v. 2 micrograms/kg/min + 20% hypertonic glucose solution 500 ml/d. In Group A patients showed lower daily increase in blood urea nitrogen (BUN) (p < 0.05), higher serum total protein and albumin levels on the 15th day of the posttherapy period (p < 0.001), lower complication rate (p < 0.005), lower mortality rate (p < 0.005) and a reverse relation between serum total protein concentration, duration of oliguria and age (p < 0.01, r2 = 0.26; p < 0.001, r2 = 0.32). These data suggest that treatment of such patients with i.v. EAA solutions significantly improves survival.

Acute Kidney Injury↗
PubMed1995

Cholelithiasis in infants with Down syndrome: report of two cases.

Down syndrome is a chromosomal disorder most often observed in the newborn period. Various facial, limb and internal abnormalities are found in this disorder but cholelithiasis in infancy has been described in only one report. We report two infants with Down syndrome associated with cholelithiasis. Except for polycythemia and indirect hyperbilirubinemia, no hemolytic process or biochemical abnormalities were evident in both patients. We believe that the cause of gallstones in our cases may have been polycythemia in the newborn period. To our knowledge this is only the second report of gallstones in infancy in Down syndrome.

Cholelithiasis↗
PubMed1995

Congenital epulis. Case report.

A newborn baby boy weighing 3100 g was found to have a pinky red solid mass 3 x 2.5 x 2 cm arising from the anterior ridge of the maxilla. This caused difficulty in feeding, and looked ugly. The mass was excised under local anaesthetic when he was 2 days old and histological examination showed congenital epulis. He also had a stage II congenital goitre. His hypothyroidism was treated with L-thyroxine sodium and he was well with no sign of recurrence of the tumour at the age of 1 year.

Cell Nucleolus↗
PubMed1995

Hydrocephalus, corneal opacities, deafness, left ventricle hypertrophy, clinodactyly in an adolescent patient. A new syndrome associated with glucocerebrosidase deficiency.

We report a 12-year-old girl with an unusual phenotype of Gaucher disease type 3. Liver glucocerebrosidase activity was 20% of the normal. In addition to common manifestations such as hepatomegaly, she showed primary communicating hydrocephalus, corneal opacities, deafness, left ventricle hypertrophy, and clinodactyly of hands and feet. We suspect cardiomyopathy to be due to myocardiac infiltration with Gaucher cells, and corneal opacities to result from an accumulation of lipid-like inclusions into the posterior stromal keratinocytes. We were only able to find one previously published sibship disclosing similar features, which could allow the delineation of a new clinical variant of Gaucher disease.

Adolescent↗
PubMed1994

A rare case of truncal duplication.

A rare case of truncal duplication is presented in which the infant had an extra truncus with well-formed extremities, a hypoplastic thorax, and a small abdomen. The truncus was attached to the infant from the thorax to the umbilicus. Successful separation of the truncus and reconstruction of the thoracoabdominal wall defect were performed in the neonatal period.

Humans↗