Elżbieta Gawrych

Tessier type 3 oblique facial cleft with a contralateral complete cleft lip and palate

Oblique facial clefts are extremely rare congenital deformities with a reported incidence of 0.24% of all facial clefts. This report presents a patient with a right-sided oblique cleft extending through the upper lip, the alar groove and the lower palpebra accompanied by a left-sided complete cleft lip and palate. Hypertylorism and bilateral microphthalmia as well as flexion wrist contractures were also present. Primary straight-line closure of the oblique cleft was undertaken followed by primary closure of the contralateral cleft lip. The treatment modality and 2 year follow-up results are presented.

Effect of primary correction of nasal septal deformity in complete unilateral cleft lip and palate on the craniofacial morphology

PURPOSE To assess the long-term effect of primary correction of the nasal septum during lip repair in unilateral complete cleft lip and palate on the craniofacial morphology. MATERIAL, SUBJECTS, METHODS The study material consisted of 54 lateral cephalograms made at the ages 7-22, including 28 cephalograms of patients from a study group (aged 7-14 years) after a primary correction of the nasal septum during lip closure and 26 cephalograms of patients from a control group (aged 12-22 years) operated on without septal correction. All cephalograms have been analysed with regard to skeletal, dental and soft-tissue relationships. Data distribution has been checked using Shapiro-Wilk test (α = 0.05). Student t-test was used to compare values of normal distribution and for the latter - Mann-Whitney test. RESULTS The comparison of all cephalometric values between the study and control groups revealed a statistically significant (α = 0.05) difference only for H (p = 0.0267), 1+: NB angle (p = 0.0175) and 1+: NA (mm) (p = 0.0249). Each of the three cephalometric measurements mentioned were greater in the study than in the control group. CONCLUSION No negative effect from the primary nasal septum correction on maxillary development could be found in the study group.

Primary Correction of Nasal Septal Deformity in Unilateral Clefts During Lip Repair—A Long-Term Study

Objective The aim of this study was to assess the long-term effect of primary septal correction carried out during lip closure on the nasal septum. Materials, Subjects, and Methods Before primary septal correction was introduced, specimens from the septal cartilage and the anterior nasal spine of 10 deceased newborns and infants were analyzed with the aid of a light microscope to verify the presence of any growth zone. The study group comprised 91 children with unilateral clefts who had undergone primary lip repair with septal correction. The control group comprised 29 children with unilateral clefts operated on without primary septal correction. The appearance of the nasal septum was assessed on extraoral photographs in the second week of life and then 10 to 14 years postoperatively. Results Morphologic examination revealed fibrous connective tissue with no signs of growth between the cartilaginous septum and bone. At long-term examination, the study group was found to have a nasal septum that was straight in 75 (83%), moderately deviated in 14 (15%), and severely deviated in two (2%) patients, whereas in the control group, the septum was considered straight in four (14%) children, moderately deviated in 11 (38%), and severely deviated in 14 (48%). Conclusions Primary septal correction may be considered safe because no growth zone exists between the septal cartilage and the anterior nasal spine. Careful primary nasal septal correction improves nose shape in a way that allows normal growth.

Lobar Holoprosencephaly With a Median Cleft: Case Report

Holoprosencephaly is a congenital abnormality of the prosencephalon associated with median facial defects. Its frequency is 1 in 250 pregnancies and 1 in 16,000 live births. The degree of facial deformity usually correlates with the severity of brain malformation. Early mortality is prevalent in severe forms. This report presents a child with lobar holoprosencephaly accompanied by median cleft lip and palate. The treatment and 9 months’ follow-up are presented. This unique case shows that holoprosencephaly may present different manifestations of craniofacial malformations, which are not always parallel to the severity of brain abnormalities. Patients with mild to moderate brain abnormalities may survive into childhood and beyond.

Effects of growth hormone therapeutic supplementation on hematopoietic stem/progenitor cells in children with growth hormone deficiency: focus on proliferation and differentiation capabilities

We investigated the direct effects of growth hormone (GH) replacement therapy (GH-RT) on hematopoiesis in children with GH deficiency (GHD) with the special emphasis on proliferation and cell cycle regulation. Peripheral blood (PB) was collected from sixty control individuals and forty GHD children before GH-RT and in 3rd and 6th month of GH-RT to measure hematological parameters and isolate CD34+-enriched hematopoietic progenitor cells (HPCs). Selected parameters of PB were analyzed by hematological analyzer. Moreover, collected HPCs were used to analyze GH receptor (GHR) and IGF1 expression, clonogenicity, and cell cycle activity. Finally, global gene expression profile of collected HPCs was analyzed using genome-wide RNA microarrays. GHD resulted in a decrease in several hematological parameters related to RBCs and significantly diminished clonogenicity of erythroid progenies. In contrast, GH-RT stimulated increases in clonogenic growth of erythroid lineage and RBC counts as well as significant up-regulation of cell cycle-propagating genes, including MAP2K1, cyclins D1/E1, PCNA, and IGF1. Likewise, GH-RT significantly modified GHR expression in isolated HPCs and augmented systemic IGF1 levels. Global gene expression analysis revealed significantly higher expression of genes associated with cell cycle, proliferation, and differentiation in HPCs from GH-treated subjects. (i) GH-RT significantly augments cell cycle progression in HPCs and increases clonogenicity of erythroid progenitors; (ii) GHR expression in HPCs is modulated by GH status; (iii) molecular mechanisms by which GH influences hematopoiesis might provide a basis for designing therapeutic interventions for hematological complications related to GHD.

Oculoauriculovertebral spectrum with a full range of severe clinical manifestations – Case report

Oculoauriculovertebral spectrum (OAVS) is a rare congenital malformation consisting of epibulbar dermoids, lid colobomas, auricular deformities, hypoplasia of the soft and bony tissues of the face, associated oral deformities and vertebral anomalies. This report presents a child with a choroid of the right eye, coloboma of the upper eyelid, epibulbar dermoid of the left eye, mandibular hypoplasia, facial asymmetry, bilateral complete cleft lip and palate, hypoplasia of the left alar cartilage, appendage of the left nose, butterfly vertebral defects of Th-1, Th-2 and abnormality of rib XI. Widened sulci of frontal and parietal lobes, bilateral white matter density decrease and calcifications of falx cerebelli were noted. Axial hypotony and delayed psycho-motor development were apparent. This rare case presents a range of severe clinical manifestations of oculoauriculovertebral spectrum. Despite a normal cervical vertebral column, tracheostenosis was present. It caused difficulties in tracheal intubation, creating the need for a tracheostomy, and death after a failed attempt at decannulation. This case indicates that in patients with clinical manifestations including cerebral anomalies, a risk of respiratory insufficiency should be always taken under consideration, when planning surgery.

Oro-palatal dysplasia Bettex–Graf – Clinical findings, genetic background, treatment

Oro-palatal dysplasia Bettex-Graf is an extremely rare syndrome consisting of microstomia, U-shaped cleft palate and micrognathia. Only two affected families have been reported before. We present the clinical findings, treatment and 13 year follow-up in a patient with this rare syndrome. The possible linkage to the fragile site 16q22 has been supported, contrary to earlier statements of its non-pathogenic character. The analysis of clinical symptoms and reference to the literature suggests, that ankyloglossia is a part of oropalatal dysplasia, whereas hypodontia is associated with the cleft itself. The authors postulate that a 20mm intercommissural distance allows acceptable function without the need for surgical correction.

Rola bioaktywnych lipidów w rozwoju mięsaków u dzieci – przegląd piśmiennictwa

SUMMARY Soft tissue sarcoma accounts for almost 7% of all malignant tumours in children and adolescents. This heterogeneous group of mesenchymal and neuroectodermal tissue neoplasms can be characterized by common biological and clinics traits. Bioactive lipids are described as lipids, the levels of which – when changed – lead to changes in cell functioning. The role of bioactive lipids in the biology of neoplasmatic cells is unquestionable. In this paper we present an overview of articles describing the impact of selected bioactive lipids on the development of sarcoma in children.

Serum concentrations of VEGF and bFGF in the course of propranolol therapy of infantile hemangioma in children: Are we closer to understand the mechanism of action of propranolol on hemangiomas?

BACKGROUND Propranolol has become the treatment of choice for infantile hemangiomas (IH). Neither the pathogenesis of IH nor the mechanism of action of propranolol on them are well understood. Possible explanations include the inhibition of angiogenesis by decreasing vascular endothelial growth factor (VEGF) and basic fibroblast growth factor (bFGF), induction of vascular endothelial cell apoptosis and vasoconstriction. OBJECTIVES The aim of the study was to assess serum concentrations of VEGF and bFGF in the course of propranolol therapy of IH in children, and to assess their clinical implications. MATERIAL AND METHODS The study included 51 children with IH treated with propranolol. The participants were assessed before, during and after the therapy with Hemangioma Activity Score (HAS), Doppler ultrasound (US) of the lesions, as well as VEGF and bFGF serum concentrations. RESULTS All children showed clinical improvement measured in the HAS. A complete involution of the IH was reported in 32 (63%) children at the time of decision of the gradual withdrawing of propranolol, and in 28 (61%) patients at the end of the treatment (out of 46 patients present at the follow up after 1.5 months). Doppler US at the follow-up showed a complete disappearance of the blood flow in the lesion in 24 (52%) children and its reduction in 12 (26%) children. There was a significant decrease in VEGF and bFGF during and after treatment compared to pretreatment values. There was a correlation between the outcome of the Doppler US and changes in bFGF during and after treatment. Changes in VEGF during treatment did not correlate with changes in the Doppler US. CONCLUSIONS Serum concentrations of VEGF and bFGF decreased during the propranolol treatment of IH, which may indicate the effect of propranolol on both. However, the statistical analysis showed their low prognostic value as biochemical markers of propranolol treatment. Clinical evaluation combined with Doppler US is the most valuable method of monitoring the therapy.

Współwystępowanie fibromatozy krezkowej i choroby Leśniowskiego–Crohna u dziecka – opis nowego przypadku

Desmoids are benign tumours originating from connective tissue. Their uncontrolled growth can threaten organ function, especially in the abdominal location, when presenting as mesenteric fibromatosis. There have been only a few case reports of the coexistence of mesenteric fibromatosis and Crohn’s disease. All of them were in adults, mostly with potential risk factors for desmoid tumours including female sex, oestrogen intake and abdominal surgery. We present, to our knowledge, the first paediatric case of the coexistence of both conditions. A 15 -year -old boy was operated on due to an obstruction of the gastrointestinal tract. Preoperative radiological examination suggested a tumour causing intussusception. Intraoperatively, a tumour and a signiϐicant length of infiltrated ileum were resected. Histopathological examination conϐirmed a desmoid tumour in the course of mesenteric ϐibromatosis and Crohn’s disease. The patient has been treated pharmacologically since. Further research is needed to explain their origin and simultaneous appearance in children.