Long-Term Results of the Murawski Unilateral Cleft Lip Repair.

BACKGROUND: In 1968, Ralph Millard published his "Millard II" method for repair of wide, complete unilateral cleft lip and nose deformity. In 1979, Murawski published a major modification of the Millard II procedure in Polish. This motif was taken up 8 years later by Mohler and 22 years later by Cutting. The Murawski variation on the Millard II procedure has become a dominant motif in unilateral cleft lip repair worldwide. This brief report intends to introduce the method to the English language literature and present long-term results. METHODS: The Murawski method alters the Millard II procedure by changing the upper medial curve into a point in the columellar base. This creates a broad C flap used to fill the entire defect produced by downward rotation of the medial lip. Millard's lateral advancement flap becomes unnecessary. A lateral approach to primary nasal reconstruction allows the lateral C flap to be used to construct the nasal floor and sill. The method is described using a physics-based surgical simulator. RESULTS: Long-term results of the method are demonstrated with four patients with 15 to 25-year follow-up. None of these patients had any revisions to the lip or nose. CONCLUSIONS: The Murawski repair was the first to modify the Millard II repair by sharpening the medial columellar incision, eliminating the need for a lateral advancement flap. This motif was put forth in the years to follow by Mohler and Cutting. Long-term results of the method are presented.

Safety assessment during initiation and maintenance of propranolol therapy for infantile hemangiomas.

BACKGROUND: Propranolol is an effective method of treatment for infantile hemangiomas (IH). A recent concern is a shift of the therapy into outpatient settings. OBJECTIVES: The aim of the study was to evaluate the safety of initiating and maintaining propranolol therapy for IH. MATERIAL AND METHODS: The study involved 55 consecutive children with IH being treated with propranolol. The patients were assessed in the hospital at the initiation of the therapy and later in outpatient settings during and after the therapy. Each time, the following monitoring methods were used: physical examination, cardiac ultrasound (ECHO), electrocardiography (ECG), blood pressure (BP), heart rate (HR), and biochemical parameters: blood count, blood glucose, aspartate transaminase (AST), alanine transaminase (ALT), and ionogram. The therapeutic dose of propranolol was 2.0 mg/kg/day divided into 2 doses. RESULTS: Four children were excluded during the qualification or the initiation of propranolol; a total of 51 patients were subject to the final analysis. All the children presented clinical improvement. There was a significant reduction in the mean HR values only at the initiation of propranolol. There were no changes in HR during the course of the therapy. Blood pressure values were within normal limits. Both systolic and diastolic values decreased in the first 3 months. Bradycardia and hypotension were observed sporadically, and they were asymptomatic. Electrocardiography did not show significant deviations. The pathological findings of the ECHO scans were not a contraindication to continuing the therapy. There were no changes in biochemical parameters. Apart from 1 symptomatic case of hypoglycemia, other low glucose episodes were asymptomatic and sporadic. The observed adverse effects were mild and the propranolol dose had to be adjusted in only 6 cases. CONCLUSIONS: Propranolol is effective, safe and well-tolerated by children with IH. The positive results of the safety assessment support the strategy of initiating propranolol in outpatient settings. Future studies are needed to assess the benefits of the therapy in ambulatory conditions.

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.

The Impact of Growth Hormone Therapy on the Apoptosis Assessment in CD34+ Hematopoietic Cells from Children with Growth Hormone Deficiency.

Growth hormone (GH) modulates hematopoietic cell homeostasis and is associated with apoptosis control, but with limited mechanistic insights. Aim of the study was to determine whether GH therapeutic supplementation (GH-TS) could affect apoptosis of CD34+ cells enriched in hematopoietic progenitor cells of GH deficient (GHD) children. CD34+ cells from peripheral blood of 40 GHD children were collected before and in 3rd and 6th month of GH-TS and compared to 60 controls adjusted for bone age, sex, and pubertal development. Next, apoptosis assessment via different molecular techniques was performed. Finally, to comprehensively characterize apoptosis process, global gene expression profile was determined using genome-wide RNA microarray technology. Results showed that GH-TS significantly reduced spontaneous apoptosis in CD34+ cells (p < 0.01) and results obtained using different methods to detect early and late apoptosis in analyzed cells population were consistent. GH-TS was also associated with significant downregulation of several members of TNF-alpha superfamily and other genes associated with apoptosis and stress response. Moreover, the significant overexpression of cyto-protective and cell cycle-associated genes was detected. These findings suggest that recombinant human GH has a direct anti-apoptotic activity in hematopoietic CD34+ cells derived from GHD subjects in course of GH-TS.

Propranolol as an effective treatment for inoperable periocular haemangiomas in children.

Introduction: Infantile haemangiomas located in the periocular region are a signi􀏐icant clinical problem. When untreated, they can lead to serious complications that can inhibit the proper development of vision. As they are often inaccessible surgically, a noninvasive eye -saving therapy is required. The aim of the study was to assess the effectiveness of propranolol treatment for inoperable periocular haemangiomas (PH) in children. Material and methods: Seventeen children with haemangiomas of the upper and lower eyelid and internal eyelid angle were thoroughly examined. Lesions were seriously affecting movement of eyelids leading to ptosis in most of cases, but anisometric astigmatism and exophtalmia were also diagnosed. Patients were carefully quali􀏐ied for propranolol treatment and were re -evaluated when therapy was completed. Results: In all of the described cases brightening and softening of the lesion were observed from the 􀏐irst days of therapy. Ninety percent of patients showed signs of complete involution. In 5 cases a mild discolouration or skin enhancement persisted. All children presented signi􀏐icant functional improvement. An 86% reduction of astigmatism was found in cases that were diagnosed initially. Conclusions: In conclusion, early diagnosis and introduction of propranolol for PH reduce the risk of complications that pose a threat to eye function. Measurement of astigmatism reduction may be a useful tool to establish a proper moment to cease the therapy. Propranolol is the 􀏐irst choice treatment option in PH based on its effectiveness, speed of action, and low rate of side effects.

Coexistence of mesenteric fibromatosis and Crohn's disease in a child ­a novel case.

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 significant length of infiltrated ileum were resected. Histopathological examination confirmed a desmoid tumour in the course of mesenteric fibromatosis and Crohn's disease. The patient has been treated pharmacologically since. Further research is needed to explain their origin and simultaneous appearance in children.

Assessment of selected carbohydrate parameters in children exposed to gestational diabetes in utero.

OBJECTIVES: The study was undertaken to assess the selected carbohydrate parameters in children exposed to gestational diabetes in utero. METHODS: 50 children exposed to gestational diabetes were compared with 46 control subjects. Anthropometric parameters of a newborn were obtained from the medical records. In all participants height, body mass, waist and hip circumferences were measured; BMI, WHR and WHtR were calculated. Values of fasting glucose, insulin, C-peptide and HbA1c were measured and HOMA2-IR, HOMA2-S, HOMA2-B were calculated. In obese children (BMI ≥95th percentile) OGTT was performed. RESULTS: The prevalence of overweight/obesity in the study group was 38%, in the control group 41% (p=0.19). Higher fasting glucose level (p=0.02) and HbA1c (p=0.00004) were found in the study group comparing to the control. In children exposed to GDM in utero a positive correlation of fasting insulin and WHR (Rs=0.31, p=0.028) as well as significantly lower HOMA2-B (p=0.03) were observed. In the study group higher HOMA2-IR (p=0.0002) and HOMA2-B (p=0.0000039) and also lower HOMA2-S (p=0.0002) were observed among participants with overweight/obesity comparing to children with normal body weight. In the study group a correlation of HOMA2-IR and SD of the birth weight was found (Rs=0.28, p=0.049). CONCLUSIONS: Children exposed to gestational diabetes in utero, in spite of similar prevalence of overweight/obesity comparing to their non-exposed peers, could have higher risk of glucose intolerance and diabetes mellitus in future. Towards observed decreased insulin sensitivity and compensatory increase in insulin secretion, prevention of overweight and obesity in this group seems to be essential.

The role of bioactive lipids in the development of soft tissue sarcomas in children ­ a review article.

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.

[Iatrogenic pseudoaneurysm of the brachial artery in a 4-month-old child - a case report]. / Jatrogenny tetniak rzekomy tetnicy ramiennej u czteromiesiecznego dziecka - opis przypadku.

We present a rare case of an iatrogenic pseudoaneurysm of the brachial artery in a 4-month-old child. As there are reports of such lesions in children that undergo invasive treatment such as sophisticated cardiovascular or radiological interventions and have preexisting risk factors, our patients had no history of vessel caniulation in hospital conditions and no systemic problems. A simple ambulatory blood draw caused a tear in the brachial artery wall, that later formed a pseudoaneurysm, a month before parents suddenly noticed mass on their child's arm. A microsurgical repair was performed. A significant increase in endovascular treatment options has been observed over last decades. Successful treatment was a result of fast radiological diagnostic and effective co-operation between paediatric and general vascular surgeons. Our case should raise awareness of paediatric practitioners about iatrogenic trauma of vessels in the differential diagnosis of tumours and vascular lesions.

[Assessment of the validity of Doppler sonography in the diagnosis of acute scrotum in boys]. / Ocena wartosci badania ultrasonograficznego metoda Dopplera w diagnostyce ostrej moszny u chlópców.

PURPOSE: Comparison of preoperative scrotal Doppler sonography and final diagnosis of subsequent exploration in patients with acute scrotum. MATERIAL AND METHODS: Retrospective analysis of the medical history of 61 patients operated on in The Department of Paediatric and Oncological Surgery in Szczecin in 2008-2014. RESULTS: Mean patient age (years) with testicular torsion was 12.7 ± 4.0, with torsion of a testicular appendage was 8.6 ± 4.5, and with orchitis or epididymitis was 7.2 ± 8.5. During operation we diagnosed testicular torsion in 28 (45%) patients, torsion of the testicular appendage in 26 (43%), and orchitis or epididymitis in 7 (12%). The specificity of Doppler sonography for testicular torsion was 46%, for torsion testicular appendage 20%, and for orchitis/epididymitis 57%. CONCLUSIONS: Doppler sonography of the scrotum shows limited specificity in the diagnosis of acute scrotum in boys. Surgical exploration is recommended even with apparently normal Doppler sonography examinations.

The significance of molecular studies in the long-term follow-up of children with beckwith- wiedemann syndrome.

Beckwith-Wiedemann syndrome (BWS) is a congenital disorder of imprinting caused by epimutations and mutations affecting two imprinted loci on chromosome 11p15. Its clinical features are heterogeneous, including macrosomia, macroglossia, hemihyperplasia, abdominal wall defects, neonatal hypoglycemia, and increased risk of embryonal tumors such as Wilms tumor, adrenocortical carcinoma, hepatoblastoma, and neuroblastoma. The molecular and clinical heterogeneity of BWS makes the diagnosis challenging, but essential, since different etiologies of BWS have different clinical prognoses - most crucially, patients with gain of maternal methylation at imprinting control region type 1 (ICR1) are at significant risk of Wilms tumor or hepatoblastoma. We present three cases of BWS with different symptomatology and two different molecular diagnoses. The authors emphasize the importance of molecular studies in the long-term follow-up of children with BWS, including refinement of phenotype-genotype correlation and its connection with optimal management and tumor surveillance.

Rare localization of an extralobar pulmonary sequestration in a child as a diagnostic challenge: a case report and review of the literature.

We present a child with a rare finding of an extralobar pulmonary sequestration localized in the upper mediastinum. Findings of the prenatal screening enabled early postnatal diagnostic measures that revealed a heterogeneous mass situated next to the thymus. Based on the localization and inconclusive computed tomography images, the preoperative prediagnoses included enterogenic cyst, thymus cyst and teratoma. Intraoperative features of the vascular supply and structure of the mass drew the surgeons' suspicion to extralobar pulmonary sequestration, which was confirmed in the histopathological examination. The scans were reevaluated after the surgery. Surgical management was implemented prior to the occurrence of any symptoms, which led to a positive general outcome. The presented case should raise the awareness of radiologists, pediatric surgeons and other consultants involved in the diagnostic process of mediastinal lesions in children. The rare localization and lack of visualization of a systemic feeding artery can divert suspicion away from extralobar pulmonary sequestration in the preoperative differential diagnosis.

[ASSOCIATION OF ANTERIOR AND POSTERIOR URETHRAL VALVES. IS IT POSSIBLE TO RECOGNIZE THIS ASSOCIATION IN CLINICAL SIGNS AND RADIOLOGICAL EXAMINATIONS?]. / WSPÓLISTNIENIE ZASTAWKI CEWKI PRZEDNIEJ I TYLNEJ U NOWORODKA. CZY ROZPOZNANIE KOINCYDENCJI WAD NA PODSTAWIE OBJAWÓW KLINICZNYCH I BADAN OBRAZOWYCH JEST MOZLIWE?

We present a rare association of anterior and posterior urethral valves. A 5 days-old boy was admitted because of clinical presenation of lower urinary tract obstruction. A renal ultrasound and voiding cysto-urethrography revealed obstructive pathology in anterior urethra. On endoscopy an association of anterior and posterior urethral valves was recognized, and the valves were incised. Follow-up demonstrated improvement of preoperative signs. We try to recognize an association of anterior and posterior urethral valves in radiological examinations.

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.

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.

Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene.

Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC) results from a simultaneous developmental abnor-caused by mutations of the tp63 gene. Five mutations: 204, 227, 279, 280, and 304 account for most cases of this syndrome. A case with R304W mutation, characterized by the presence of all major (ectrodactyly, ectodermal dysplasia, cleft lip and palate) and two minor (lacrimal duct obstruction, developmental delay) clinical symptoms of the syndrome is presented. This severe case improves the existing knowledge concerning the genotype-phenotype correlations in EEC syndrome.

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.

[Congenital epidermolysis bullosa--a case report]. / Pecherzowe zapalenie skóry u noworodka--opis przypadku.

Bullous dermatitis in infants is a clinical term used for a number of disorders associated with primary neonatal pemphigus. The disease requires differentiation of autoimmune disorders such as pemphigus vulgaris, pemphigus foliaceus, and bullous pemphigoid. These diseases are the result of pemphigus IgG antibodies that pass from the mother to the fetus through the placenta. The level of antibody titers in the pregnant woman and her clinical condition are not the markers of the severity of the disease in children, but, in case of a high level, a miscarriage premature birth, or even stillbirth, may occur. Staphylococcal syndrome exfoliative dermatitis (staphylococcal scalded skin syndrome - SSSS), the etiological agents of which are type A or B exfoliative toxins of Staphylococcus aureus, is most frequently observed. These toxins can activate as superantigens and cause T-cell activation. They induce proteolysis and separation of the granular layer of epidermis through direct binding of these antigens. Symptoms of the disorder regardless of the etiologic factors, are common: redness of the skin and formation of bubbles of various sizes filed with serous or serous-bloody content. Bursting bubbles patches peel off, leaving bare, sometimes oozing surface. Extensive damage to the skin is a gateway to infection and disturbs the function of regulating warmth and water-electrolyte balance. Early detection of the cause and appropriate general and local treatment effectively prevent the development of sepsis. The authors present a case of a full-term neonate (male, birthweight 3230 g, good overall condition, 5-min Apgar score: 10) born with dermatitis bullosa of unknown etiology Physical examination immediately after birth revealed multiple blisters filled with serous and serous-bloody content on the skin all over the neonatal body mostly in the area of both armpits, elbows, wrists, knees, ankles and fingers of both hands and feet. The course of pregnancy was uncomplicated. However detailed family history revealed pemphigus skin in the mother (from infancy up to the age of puberty) but the mother was not able to offer details on the diagnosis and treatment of this disease. Symptoms in the mother disappeared after her first menstrual period. Both, typical clinical symptoms presenting in the newborn and maternal pemphigus in the past initially suggested an autoimmune disorder However the examination of the levels of IgG antibody and anti-IgA in neonatal serum, as well as tissue examination by the immunofluorescence (IF) method to detect the presence of these antibodies, were negative and consequently the autoimmune disease was excluded. Negative results of bacteriological tests did not confirm the staphylococcal syndrome. It seems that the cause of cutaneous pemphigus observed in the newborn could be an intrauterine infection or hidden, undiagnosed collagen disease in the mother.

Coexistence of splenic hemangioma and vascular malformation of the lower extremity in a child: a case report.

We report a rare finding of the coexistence of splenic hemangioma and progressive vascular malformation of the left lower extremity in a child. The lesion on the left calf was described as a vascular malformation in computed tomography and magnetic resonance. At the age of one year, the abdominal Doppler ultrasound was normal. The examination was repeated at the age of six years due to recurrent pain in the left hypochondrium and revealed giant multiple splenic hemangiomas. The girl underwent splenectomy at the age of 14 years. Histological findings demonstrated multiple cavernous hemangiomas. We present our case report regarding the diagnosis of spleen hemangioma and indications for surgical management in children.