The challenges of managing coexistent disorders with phenylketonuria: 30 cases.

INTRODUCTION: The few published case reports of co-existent disease with phenylketonuria (PKU) are mainly genetic and familial conditions from consanguineous marriages. The clinical and demographic features of 30 subjects with PKU and co-existent conditions were described in this multi-centre, retrospective cohort study. METHODS: Diagnostic age of PKU and co-existent condition, treatment regimen, and impact of co-existent condition on blood phenylalanine (Phe) control and PKU management were reported. RESULTS: 30 patients (11 males and 19 females), with PKU and a co-existent condition, current median age of 14 years (range 0.4 to 40 years) from 13 treatment centres from Europe and Turkey were described. There were 21 co-existent conditions with PKU; 9 were autoimmune; 6 gastrointestinal, 3 chromosomal abnormalities, and 3 inherited conditions. There were only 5 cases of parental consanguinity. Some patients required conflicting diet therapy (n=5), nutritional support (n=7) and 5 children had feeding problems. There was delayed diagnosis of co-existent conditions (n=3); delayed treatment of PKU (n=1) and amenorrhea associated with Grave's disease that masked a PKU pregnancy for 12 weeks. Co-existent conditions adversely affected blood Phe control in 47% (n=14) of patients. Some co-existent conditions increased the complexity of disease management and increased management burden for patients and caregivers. CONCLUSIONS: Occurrence of co-existent disease is not uncommon in patients with PKU and so investigation for co-existent disorders when the clinical history is not completely consistent with PKU is essential. Integrating care of a second condition with PKU management is challenging.

Cigarette smoking among students and the influence of legal regulations on passive smoking.

Research suggests that reducing the degree of nicotine addiction in the population cannot be achieved only by prevention programs. Legislative measures are necessary to be taken by the state. The aim of this study was to assess the degree of tobacco abuse in three groups of students. It also assesses the influence of ban on smoking in public places on passive contact of students with tobacco. A customized survey made up of open and closed questions was conducted among 102 students of electrical faculty, 109 medical students, and 71 students of animal husbandry faculty. The results showed that significantly more women from the electrical faculty smoked. Among the students of animal husbandry, men smoke significantly more cigarettes than women. Women studying animal husbandry start smoking significantly earlier (by about 2 years) than women from other faculties. They are also significantly less likely to smoke cigarettes at school and at home. According to the study, the Polish law to ban smoking in public places, in force since the 15th of November 2010, did not make students quit smoking, although the rate of smoking students decreased. Students did not observe restrictions on smoking in their environment. The study indicates a positive influence of the anti-nicotine legislation on passive smoking, just after 3 months from its introduction.

Changes of laryngeal parameters during intrauterine life.

OBJECTIVE: Increased care of fetal and neonatal airways has led to advances in neonatal medicine. The early diagnosis and treatment of respiratory diseases require a detailed knowledge of fetal airway anatomy and development. The aim of this study was to determine the anatomical development of the thyroid and cricoid cartilages and their structural variability during fetal life. MATERIAL AND METHODS: The study was performed on the thyroid and cricoid cartilages of 55 human fetal larynges of both sexes, between the ages of 13 and 27 weeks of intrauterine life. Numerous measurements of the thyroid and cricoid cartilages were performed. RESULTS: Correlations between the obtained results were calculated in relation to the crown-rump (C-R) length of human fetuses and to sex. The structural variability of the thyroid and cricoid cartilages of human male and female fetuses in subsequent weeks of intrauterine life was observed. In both genders a correlation between laryngeal size and fetal crown-rump length, regardless of sex, was found. The thyroid cartilage presents a sexual dimorphism. CONCLUSIONS: The results of this study can be useful in the analysis of prenatal examinations, and in planning the treatment of airway emergencies.

Pediatric pulmonary Hodgkin lymphoma: analysis of 10 years data from a single center.

Several reports indicate that lungs are the extralymphatic site most commonly affected in patients with Hodgkin lymphoma; however, the data in children are rather limited. This retrospective study aimed to assess the frequency, clinical picture, and the impact on prognosis in children with pulmonary Hodgkin lymphoma, who were diagnosed and treated in a single center during a 10-year period. Pulmonary lesions related to HL: nodules and parenchymal infiltrates with cavitations were found in 3 of 32 (9.4%) patients; in 2 cases these were found as the concomitant manifestation whereas in 1 case as the solitary form (Primary Pulmonary Hodgkin Lymphoma). B-DOPA and MVPP chemotherapy combined with mediastinal and pulmonary irradiation resulted in sustained remissions in all 3 patients, lasting 3, 7, and 64 months, respectively. Lung involvement occurs in up to 10% of children with Hodgkin lymphoma. Primary pulmonary Hodgkin lymphoma is a rare and atypical form of Hodgkin lymphoma; thus is associated with delayed diagnosis which does not seem to affect prognosis. It should be suspected in a child with non-resolving pneumonia and pulmonary parenchymal infiltrates with cavitations.

Tobacco abuse and physical activity among medical students.

OBJECTIVE: This lifestyle is mainly determined during childhood and connected with poor public prophylactic health policy. The aim of this study was to estimate physical activity and level of tobacco abuse, as well as knowledge about health behaviours, among medical students. METHODS: Questionnaires were completed by Polish (243) and foreign medical students (80). RESULTS: It was stated that about 20% of the students smoked cigarettes. Female students from Norway took up smoking significantly more often than other participants, whereas there were more smokers among those from Poland. There was a significantly larger percentage of smoking males from Norway than among male Polish students. The same students presented a low level of physical activity. The smallest level of physical activity was characteristic of the Polish women. CONCLUSION: This situation requires an intensification of activities aimed at supporting pro-health lifestyles and the elimination of unfavourable effects, especially among medical students.

Idiopathic pulmonary hemosiderosis in a 9-year-old girl.

Diffuse alveolar hemorrhage (DAH) is a rare and life-threatening condition characterized by hemoptysis, dyspnoea, alveolar infiltrates on chest radiograph and various degrees of anemia. It may occur either as a primary disease of the lungs or a secondary condition due to cardiac, systemic vascular, collagen or renal diseases. Idiopathic pulmonary hemosiderosis (IPH) is a separate form of DAH of unknown origin, associated in some cases with celiac disease. The estimated incidence of IPH in children is 0.24-1.23 cases per million, with a mortality rate as high as 50%. Only about 500 cases of this disease have been described in medical literature. We present a case of a 9-year-old girl diagnosed with IPH, which was confirmed by the presence of many hemosiderin-laden macrophages in bronchoalveolar lavage obtained by bronchofiberoscopy. Therapy with glucocorticoids was initiated with a partial and transient response. Azathioprine and a gluten-free diet were subsequently introduced. However, the girl still suffers from recurrent episodes of hemoptysis, dyspnea and anemia.

[Changes in the blood coagulation and fibrinolysis systems in newborn infants with infections and normal and low birth weight]. / Zmiany w ukladzie krzepniecia i fibrynolizy w toku zakazenia noworodków z prawidlowa oraz z mala urodzeniowa masa ciala.

The blood clotting and fibrinolysis systems were examined in 97 newborns hospitalized for diseases caused by infection. Two groups were isolated on the basis of differences in birth weight: group A with normal birth weight and group B with low birth weight. The observation of changes developing in the blood clotting and fibrinolysis systems during infection was confirmed. Differences were noted in the response of blood clotting system between group A and B. In newborns with low birth weight (group B) plasma clotting time was more frequently prolonged (especially the time of prothrombin plasma clotting), and prolongation was noted also in the plasma euglobulin lysis time. Less frequently, however, a positive ethanol test and reactions in the form of increased fibrinogen concentration and platelet count rise were found. These differences may suggest a more profound immaturity of the studied newborns with low birth weight, and their greater susceptibility to infection-related coagulopathy.

[Hyperglycemia as a side effect of using L-asparaginase in children with acute lymphoblastic leukemia (ALL]. / Hiperglikemia jako powiklanie stosowania L-asparaginazy u dzieci z ostra bialaczka limfoblastyczna (OBL).

Two cases of hyperglycemia complicating therapy of childhood ALL with the use of L-asparaginase are described. Both patients required insulin administration. The relationship between L-aspa therapy and clinical manifestation of hyperglycemia seems to indicate that this could be the side effects of the drug.

[DNA index and proliferative activity of blastic cells in childhood ALL]. / Indeks DNA i aktywnosc proliferacyjna komórek bialaczkowych w OBL u dzieci.

DNA Index and the pretreatment proliferative activity of blastic cells were assessed in relation to treatment results in 58 children with acute lymphoblastic leukemia. ALL patients were treated with the use of BFM 79 protocol. After the median follow-up time of 32 months p-EFS and p-DFS were 0,425 and 0,495 respectively. There were 35 (56.45%) diploic, 21 (33.81%) hyper-diploic and 2 (3.22%) hypo-diploic patients. There was no statistical difference in p-EFS and p-DFS between diploic and hyper-diploic patients. Patients in I-st remission were characterized by significantly higher percentage of cells remaining in the S-phase of the cell cycle.

[Treatment results of acute lymphoblastic leukemia in children from centers in Bialostock and Szczecin]. / Wyniki leczenia ostrej bialaczki limfoblastycznej (OBL) u dzieci w osrodkach bialostockim i szczecinskim.

The retrospective analysis was undertaken in order to assess treatment results of childhood ALL achieved in two "independent" units: in Bialystok and Szczecin. It comprised 61 patients: 24 girls and 37 boys aged 10 - 197 months (median 64, mean 73 months), who between November 1987 and December 1992 were diagnosed as having ALL. 25 children, with risk factor greater than 0.8 were classified as intermediate risk patients. ALL 61 children were treated greater than 0.8 were classified as intermediate risk patients. ALL 61 children were treated according to BMF 86 protocol modification of the Polish Leukemia Study Group. The observation was closed in February 1993; the follow-up time was within the range of 10 - 72 months (median 32, mean 32 months). 7 patients (11.5%) did not enter remission, 4 children (6.6%) died in remission and 11 children (18.0%) relapsed. The probability of event-free survival (EFS) and disease-free survival (DFS) were 0.53 and 0.67 respectively. There was no statistical difference in p-EFS between standard and intermediate risk patients (SRG = 0.60 vs IRG = 0.53). It has been shown that p-EFS was not statistically influenced by age, sex, WBC, Hb level, paS-positive and acid-positive ALL. It has been suggested that protocol deviations were the main cause of the inferior (as compared to other domestic centers) treatment results.

[The analysis of cadmium and lead levels in the umbilical blood and first urine in newborn infants]. / Badanie stezenia kadmu i olowiu we krwi pepowinowej i w pierwszym moczu noworodków.

Umbilical blood Cd and Pb concentration determined by AAS (PE Zeeman 3030) equaled 0.15 micrograms/dl and 4.09 micrograms/dl, respectively. The Cd level in the first urine equaled 0.02 micrograms/dl, that of Pb, 0.78 micrograms/dl.

[Treatment results and prognostic significance of selected clinical and laboratory features in children diagnosed with malignant lymphoma]. / Wyniki leczenia oraz prognostyczne znaczenie wybranych cech klinicznych i laboratoryjnych u dzieci z rozpoznaniem chloniaka zlosliwego.

The clinical picture and results of treating malignant lymphoma in children, diagnosed and treated at the Pediatric Institute of Pomeranian Medical Academy in Szczecin during the period between May 1979 and February 1992, were analyzed. The studied group consisted of 33 children (23 boys, 10 girls) aged between 41-169 months (median 112 months, mean 110 months) having Hodgkin's lymphoma (HL), and 35 children (26 boys, 9 girls), aged between 35-171 months (median 101 months, mean 104 months), with non-Hodgkin's lymphoma (NHL). Till 1987 the children with HL were treated according to MOPP program, and since 1988 with MVPP/B-DOPA. Two children were treated according to COMP and ABVD programs. The NHL children were treated till 1985 with LSA2L2 or COAMP, and from 1986 with BFM-NHL 86 with the modification of methotrexate doses. The duration of observation involving HL cases ranged from 2 to 156 months (median 76, mean 78 months), that covering NHL cases from 3 to 153 months (median 28 months, mean 44 months). It was proved that the results of HL treatment in the Pediatric Institute of Pomeranian Medical Academy in Szczecin were comparable with the results of other centers. The probability of event free survival (EFS) for the whole group was 0.818, for children treated by MOPP program was 0.888, for children with MVPP/B-DOPA was 0.900. Unfortunately, the results of NHL treatment in our center in Szczecin are worse than those of other hematologic-oncologic institutions. The EFS was 0.550. The reason why our results were poor in treating NHL in our center was: delay in beginning the remission-inducing treatment because of diagnostic difficulties (especially in smaller hospitals): prolongation of the first remission-inducing therapy over 14 days, mainly due to generalized infection, generalized diathesis haemorrhagica with bleeding from the alimentary tract, and finally the need of modifying the treatment program BFM 86 concerning primarily the lowering of methotrexate doses from 5 g/m2 to 0.5 g/m2. That was necessary in view of our inability of monitoring the level of methotrexate in blood. All of those findings suggest the necessity of: 1) earlier proper diagnosis; the physicians taking care of children should be aware of high incidence of such neoplasms in children, especially with atypical clinical presentation; 2) full realization of the therapeutic program (particularly remission-inducing one). A general real improvement of the treatment conditions in hospitals is indispensable. The actual work has proved that in HL the detrimental prognostic factors included; the age above 10 years and histological type of nodular sclerosis. Children older than 10 years had lower EFS (1.0 vs 0.65; p < 0.05). EFS in histological type of nodular sclerosis was also lower namely (0.925 vs 0.600; p < 0.05). In the NHL group the bad prognostic factors were the age over 10 years and proliferation of T-cells. Patients older than 10 years displayed statistically lower EFS (0.709 vs 0.288; p < 0.05). The children with T-NHL had also lower EFS (0.621 vs 0.187; p < 0.05). It is necessary that the prognosis in these children should be substantially improved by elaborating treatment programme being adjusted to cope with the risk factors.