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Case Reports 2009; 30(Suppl 1): 29-31 PubMed PMID: 20027140 Citation  Keywords:  Diagnosis, Differential, Humans, Hyperbilirubinemia, Neonatal:diagnosis, Infant, Newborn, Male, Mevalonate Kinase Deficiency:complications,.   

OBJECTIVES: To present clinical and laboratory findings in the case of a term newborn with conjugated hyperbilirubinaemia and to stress the importance of differential diagnosis.

RESULTS: A term newborn delivered by caesarean section (birth weight 2550 g, birth length 47 cm, value of Apgar score 9/10) with good direct adaptation had on the first day of life increased levels of conjugated bilirubin (23 micromol/l), unconjugated bilirubin (55 micromol/l) and C-reactive protein 39.4 g/l. The diagnosis of mevalonic aciduria was confirmed by urine analysis (mevalonolactone 393 micromol/mmol crea, normal range <2.0 micromol/mmol crea; mevalonic acid 40.5 micromol/mmol crea, normal range <0.04 micromol/mmol crea).

CONCLUSION: Mevalonic aciduria can be clinically distinguished based on symptoms of neurological involvement. It can also present itself with hepatosplenomegaly, lymphadenopathy, anaemia, leukocytosis, increased sedimentation rates and levels of C-reactive protein. In cases of conjugated hyperbilirubinaemia of unknown aetiology it is important to exclude mevalonic aciduria by urine investigation for organic acids....

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Case Reports 2009; 30(4): 437-449 PubMed PMID: 20010503 Citation  Keywords:  Antioxidants:therapeutic use, Drug Therapy, Combination, Humans, Infant, Magnetic Resonance Imaging, Male, Melatonin:therapeutic use, Neuroblastoma:diagnostic imaging, Positron-Emission Tomography, Remission Induction, Retinoids:therapeutic use, Retroperi.   

OBJECTIVES: The combined use (MDB) of Somatostatin, Melatonin, Retinoids, Vitamins E, C, and D3, with Calcium, Chondroitin sulfate, and microdoses of Cyclophosphamide in a seven-month old baby affected by a voluminous retroperitoneal neuroblastoma measuring 4 x 8 cm produced a 50% objective response in six months, an almost total response in one year and a complete response at 14 months, with cure and absence of disease for over ten years.

RESULTS: This paper discusses the rationale and the molecular mechanisms of action of the treatment which has a differentiating, apoptotic and antiproliferative effect, preserving and enhancing both the trophism and functionality of organs and tissues, and the neuroimmunoendocrine and antiblastic homeostasis. This result is in agreement with the positive results already published on the use of the MDB in lymphoproliferative diseases, in stage III and IV lung cancer, in breast cancer and in cancers of the upper aerodigestive epithelia. Without the need for hospitalisation and with no toxicity, the MDB rapidly reduced and then eliminated the voluminous tumoral mass, allowing a normal quality of life and a perfectly normal psychophysical development.

CONCLUSIONS: We believe it is of use to report this case in order to invite greater interest in the oncological possibilities offered by the immunoneuroendocrine and biological-receptorial properties of the MDB treatment....

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Journal Article 2009; 30(4): 501-505 PubMed PMID: 20010501 Citation  Keywords:  Adenosine, Birth Weight:genetics, Body Height:genetics, Child Development:physiology, Cytosine, Female, Humans, Infant, Infant, Newborn, Infant, Small for Gestational Age:growth & development, Insulin-Like Growth Factor I:genetics, Male, Polymorphism, Gen.   

BACKGROUND: IGF-I gene polymorphisms might alter IGF-I level resulting in decreased foetal and postnatal growth and increased risk for diabetes mellitus type 2 and cardiovascular diseases in adulthood.

OBJECTIVES: We analyzed the association between Cytosine-Adenosine (CA)10-24 repeats polymorphism in promoter region of the IGF-I gene and early growth in infants with birth weight appropriate for gestational age (AGA) and small for gestational age (SGA).

DESIGN AND METHODS: All neonates were born at term, 196 of them were AGA and 26 SGA. Blood for DNA analyses was obtained from placental part of umbilical vein. Genotyping was performed using fragment analyses of IGF-I gene promoter region. The data about postnatal growth in the group of AGA children were obtained at the age of 18 months, in SGA children at 12 months.

RESULTS: No differences in the frequency of wild type allele with (CA)19 repeats and polymorphisms with (CA)<19 or (CA)>19 repeats were observed between AGA and SGA children. The average birth weight and length in AGA wild type (CA)19 homozygotes were lower in comparison with AGA carriers of various (CA)n polymorphisms but all observed anthropometric differences disappeared at the age of 18 months. In SGA children, no differences were found between number of (CA)n repeats and anthropometric parameters both at birth and at the age of 12 months.

CONCLUSIONS: Although (CA)n repeats polymorphism in IGF-I gene might affect prenatal growth in AGA children, our results have not shown any impact of variable number of (CA) n repeats in IGF-I gene on postnatal growth....

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Case Reports 2009; 30(4): 450-452 PubMed PMID: 20010490 Citation  Keywords:  Adult, Albumins:therapeutic use, Cordocentesis, Female, Fetal Therapies, Humans, Hydrops Fetalis:diagnosis, Infant, Newborn, Paracentesis, Pregnancy, Pregnancy Outcome, Premature Birth,.   

BACKGROUND: Nonimmune hydrops fetalis (NHF) is an abnormal accumulation of fluid - especially serous - in visceral cavities and soft tissues. This condition may be caused by: cardiovascular diseases, chromosomal disorders, infections, lung, stomach, intestinal, kidneys, urinary tract and blood diseases, metabolic disorders and tumors. NHF may by diagnosed by an ultrasound scan. THE AIM of the study was to present diagnostic and therapeutic difficulties as well as management with reference to NHF.

CASE STUDY: An abnormal accumulation of fluid in visceral cavities and subcutaneous tissue of two fetuses was diagnosed by an ultrasound scan. Despite a detailed and specific diagnostic proceeding which included: infections, congenital malformations, chromosomal abnormalities etc. it was impossible to establish the cause of NHF. The symptomatic therapy was performed: periodic cordocentesis with an injection of human albumin solutions. In case of the first fetus therapeutic thoracocentesis was performed. The fetuses were delivered in 32nd and 31st week of pregnancy. Both neonates survived but even after the delivery it was impossible to establish the cause of NHF.

CONCLUSIONS: Multidirectional diagnostic approach is essential for the implementation of causal treatment of NHF. In case of idiopathic NHF the only management is symptomatic therapy, fetal monitoring and preterm delivery....

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Journal Article 2009; 30(4): 535-539 PubMed PMID: 20010489 Citation  Keywords:  Age of Onset, Biomarkers:blood, Fetal Blood, Humans, Infant, Newborn, Infant, Newborn, Diseases:blood, Infection:blood, Interleukin-6:blood, Morbidity, Pneumonia:blood, Prevalence, Sensitivity and Specificity,.   

UNLABELLED: Perinatal infections exert considerably negative effects on morbidity and mortality of newborns.

HYPOTHESIS: elevations of cytokine IL levels may be used as a marker of early-onset neonatal infections.

TARGETS: to establish relationships between elevated IL 6 cytokine levels and neonatal morbidity (cranial and pulmonary).

METHODS: examinations of the umbilical blood for IL 6 values in 392 newborns weighing under 1500 g treated in Ceské Budĕjovice at the Intensive Care Unit and Unit of Intensive Care and Resuscitation.

RESULTS: a statistically significant relationship was demonstrated between elevations of cytokine IL 6 levels and pulmonary morbidity in newborns.

DISCUSSION: the authors recommend examination of cytokine IL levels in the umbilical blood with a possibility to acquire the result within 2 hours after the delivery, which makes neonatologists possible to initiate goal-directed antibiotic therapy....

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Journal Article 2009; 30(3): 403-408 PubMed PMID: 19855368 Citation  Keywords:  Analysis of Variance, Apgar Score, Birth Weight:physiology, Blood Flow Velocity:physiology, Female, Humans, Hypertension:diagnostic imaging, Infant, Newborn, Laser-Doppler Flowmetry, Placental Circulation:physiology, Pregnancy, Pregnancy Complications, Ca.   

BACKGROUND: Hypertension is one of the most frequent complications of pregnancy. Due to high risk of morbidity and mortality in both mothers and children, it is necessary to continuously monitor the pregnancy, principally with biophysical methods. Particularly, doppler velocimetry of the materno-fetal circulation proves useful. THE AIM of the study was to assess the usefulness of doppler test in monitoring the condition of the foetus in preterm delivered pregnancy complicated with hypertension.

MATERIAL AND METHODS: The retrospective analysis comprised the data of 116 women who delivered prematurely at the Clinics of the Department of Gynaecology and Obstetrics at the Collegium Medicum of the Jagiellonian University in the years 2006-2007, resulting in creation of Group I involving 38 pregnant women with preeclampsia, and Group II of 36 women whose pregnancy was complicated with gestational hypertension. Control group was formed of 42 women with correct arterial blood pressure. When describing the groups, the differences in the birth weight and Apgar score were indicated.

RESULTS: A significant statistical difference was found in the area of pulsation rate in the umbilical artery and cerebro-placental ratio (CPR). In the case of preterm delivery complicated with arterial pressure disorders, the foetus is characterised with worse organic perfusion and slower somatic growth than if no concomitant hypertension is present. Hypertension forms an additional risk factor in the course of preterm delivery, and doppler velocimetry is a good method for monitoring the condition of the foetus, as it allows for detection of irregularities and for implementation of relevant treatment to improve the newborn's condition at birth....

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Journal Article 2009; 30(2): 262-267 PubMed PMID: 19675521 Citation  Keywords:  Adolescent, Adrenal Hyperplasia, Congenital:pathology, Child, Child, Preschool, Disorders of Sex Development:pathology, Female, Genitalia:abnormalities, Genitalia, Female:abnormalities, Humans, Infant, Male, Reconstructive Surgical Procedures, Treatment O.   

INTRODUCTION: Ambiguous genitalia always present diagnostic and therapeutic problem. Long-term results of feminizing operations are unsatisfactory in some cases and reports from follow-up after feminizing genitoplasty are rare in the literature. Systematic studies are needed to evaluate ultimate function of all girls undergoing feminizing surgery. In our opinion, the lack of worldwide-accepted scale for the assessment of long-term effects of feminizing genitoplasty, enabling the possibility of comparing outcomes between institutions and countries, may contribute to this deficit of reliable data.

AIM: The aim of the study was the evaluation of the outcomes of surgical management of masculinization using a novel scale developed by the authors.

MATERIAL AND METHODS: We examined 43 patients aged 3-24 years (mean age 15,4 years) operated due to ambiguous genitalia. Most of the patients were females with congenital adrenal hyperplasia (CAH) diagnosed in 38 of subjects (88.4%).The patients were operated at the age from 10 months - 15 years (mean age 4,5 years). Five patients had to be reoperated. The effects of surgical management in ambiguous genitalia were assessed using our own scale. We evaluated five anatomical and cosmetic parameters (general appearance, size of pudendal labia, symmetry of pudendal labia symmetry, size and position of clitoris, size of introitus and position of urethra opening), each of them was scored 0-2 points.

RESULTS: In 36 of examined patients the result of the surgery was considered good, in 4 patients - satisfactory and in 3 - poor. The most common complication of feminizing genitoplasty in our patients was stenosed vagina (in 10 patients, 23.8%). Location of urinary coil in anterior wall of vagina was found in 6 patients (13.9%) and in 1 patient it was invisible (2.3%). Post-operational clitoral enlargement was found in 3 cases (6.9%).

CONCLUSION: Taking into consideration controversial data about the results of feminizing genitoplasty, a standarized, well-defined and commonly accepted scale enabling comparison between methods and institutions is necessary. In our opinion scoring scale makes the evaluation more precise and the results are more comparable....

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Case Reports 2008; 29(6): 1021-105 PubMed PMID: 19112402 Citation  Keywords:  Abdomen:microbiology, Cross Infection:complications, Enterocolitis, Necrotizing:etiology, Fatal Outcome, Female, Humans, Infant, Low Birth Weight, Infant, Newborn, Infant, Premature, Intensive Care, Neonatal, Male, Mucormycosis:complications,.   

BACKGROUND: The nosocomial occurrence of mycotic infections negatively affects results of the neonatal care in newborns in the sense of their increased mortality and morbidity.

AIM: The communication presented here is focused on an analysis of predisposing factors and clinical patterns of infections induced with mucormycosis strains. The authors provided an analysis of six case reports concerning newborns that died in association with nosocomial infections, where mucormycosis strains were microbiologically and microscopically detected in autopsy.

RESULTS: The newborns in the group considered died due to general metabolic breakdown induced by peritonitis based on the large intestine perforation - enterocolitis. The predisposing factors include low birth-weight, asphyxia after the delivery, catheterization of umbilical veins and v. cava inferior and introduction of the endotracheal ventilation. Nosocomial nature of the infection propagation is suggested by a delayed onset of manifestations after the delivery.

CONCLUSION: The authors point out the possibility of the origination of nosocomial infection induced with mucormycotic strains. Thus, they recommend adhering to a strict anti-epidemic regimen at neonatal departments with a particular emphasis put on consequent prohibiting of the storage and use of food at the departments. They emphasize the fact that the most frequent clinical pattern induced with mucormycotic strains in newborns with low birth-weight is necrotizing enterocolitis. They also stress the fact that the final diagnosis of the infection is most typically established based on the histological examination only....

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