Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.

This study reports clinical, biochemical and histopathological findings associated with a novel homozygous MPV17 mutation in four patients with mitochondrial depletion syndrome. The severe course of the disease, which started in the first weeks of life, was dominated by a failure to thrive, hypotonia and liver dysfunction, with relatively mild neurological involvement. All affected infants died by 1 year of age. Laboratory findings included progressive liver failure (hypertransaminasaemia, icterus, and coagulopathy), recurrent hypoglycaemia, lactic acidaemia, hyperferritinaemia, and increased transferrin saturation. Histological and ultrastructural analyses uncovered significant lipid accumulation in hepatocytes and myocytes. A severe decrease in the mitochondrial/nuclear DNA (mtDNA/nDNA) ratio was found post-mortem in the livers (and in one muscle specimen) of both examined patients. Oxidative phosphorylation system (OXPHOS) Western blotting revealed low levels of complexes I, III and IV subunits. The highlights of our findings are as follows: (i) The novel p.Pro64Arg mutation is the second recurrent MPV17 mutation reported. The phenotype associated with the p.Pro64Arg mutation differs from the phenotype of the relatively common p.Arg50Gln mutation, suggesting the existence of a genotype-phenotype correlation. (ii) Tissues collected from patients during autopsy may be useful for both mtDNA/nDNA ratio assessment and OXPHOS Western blotting.

SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations.

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis caused by mutations in the DHCR7 gene. Previous studies estimated the prevalence of SLOS between 1 in 10,000 to 1 in 70,358 based on case frequency surveys. Although panethnic, SLOS appears to be most frequent in Central European populations (Czech Republic 1 in 10,000, Slovakia 1 in 15,000 - 1 in 20,000). In Polish individuals with SLOS two DHCR7 mutations, c.452G>A (p.Trp151X) and c.976G>T (p.Val326Leu), account for 65.2% of all observed DHCR7 mutations. We analyzed 2169 samples for the p.Trp151X mutation and 2087 for the p.Val326Leu mutation. The combined carrier frequency of these two mutations of was 2.40+/-0.32%, yielding a calculated incidence of SLOS in Poland of 2.5 4x10(-4)-4.3 5x10(-4) (1 in 2,300 to 1 in 3,937) placing SLOS among the most common recessive genetic disorders in Poland.

[Alpha-fetoprotein--diagnostic utility in squamous cell carcinoma of the head and neck]. / Alfa-fetoproteina--diagnostyczna uzytecznosc w nowotworach zlosliwych glowy i szyi.

The authors present results of evaluation of alpha-fetoprotein (AFP) in 146 persons (108 patients with head and neck carcinoma and 38 healthy persons as control group). We analyzed a concentration of AFP in preliminary study and in monitoring depending on clinical advances of tumour, mass of primary tumour and metastases to lymph nodes. Our results indicate that evaluation of AFP have not high value in diagnostic procedures and monitoring patients with head and neck carcinoma.

X-linked hypophosphatemia in Polish patients. 2. Analysis of clinical features and genotype-phenotype correlation.

Clinical and molecular data of 59 affected persons from 36 unrelated families with XLH (36 probands and 23 members of their families) were analysed. Characteristic phenotypic features (degree of leg deformities, growth failure, tooth abnormalities, tubular reabsorption of phosphate, serum phosphate and 1,25-dihydroxyvitamin D3 concentrations, head length and hearing defect in some cases) were assessed in relation to the type and localisation of 29 different PHEX gene mutations. The severity of clinical symptoms did not strictly depend upon the type and localisation of the PHEX gene mutation. A hearing defect was correlated with mutations in the beginning fragment, while tooth abnormalities and increased head length with the mutations in the beginning and the terminal fragment of the gene. Phosphate and vitamin D3 supplementation usually slowed progressive growth retardation and leg bowing. Our results point to the probability that alternative splicing occurs in the PHEX gene, producing several active forms of the PHEX protein. Some of them might be involved in bone turnover and dentin formation, others in renal phosphate uptake and vitamin D3 metabolism.

[Squamous cell carcinoma antigen (Scc-Ag): diagnostic utility in squamous cell carcinoma antigen of the head and neck with metastasis to lymph nodes]. / Antygen raka plaskonablonkowego (Scc-Ag): diagnostyczna uzytecznosc w przypadkach nowotworów zlosliwych glowy i szyi z przerzutami do wezlów chlonnych.

Aim of the work was estimation of squamous cell carcinoma antigen (SCC) concentrations in serum and qualification its diagnostic value in patients with malignant neoplasm of head and neck in dependence from presence of metastasis to lymphatic glands. The study comprised the group of 146 persons (108 with head and neck malignant neoplasm, 38 of persons determined group supervisory). At 35 ill one ascertained metastasis to lymph nodes. In presented work sensitivity of SCC in initial investigation was (52.8%), specificity (97.4%), positive predicting value (PV+ = 94.2%) and negative predicting value (PV- = 64.0%). We observed not characteristic statistical dependence of concentrations SCC from presence of metastasis to lymph nodes. There was characteristic correlation between concentration of SCC and presence of metastasis to regional lymphatic glands using of correlation R-Spearman.

[Serum levels of tissue polypeptide antigen in patients with the head and neck cancer according to presence of metastases in lymph nodes]. / Stezenia tkankowego antygenu polipeptydowego u chorych na nowotwory zlosliwe glowy i szyi w zaleznosci od obecnosci przerzutów do wezlów chlonnych.

Aim of the work was estimation of Tissue Polypeptide Antigen (TPA) concentrations in serum and qualification its diagnostic value in patients with malignant neoplasm of head and neck in dependence from presence of metastasis to regional lymph nodes. The study comprised the group of 146 persons (108 with head and neck malignant neoplasm, 38 of persons determined group supervisory). At 35 ill one ascertained metastasis to lymph nodes. In presented work at ill without metastasis to lymphatic glands sensitivity of test TPA carried out 28.8%, and at ill with metastasis 42.9%, attaining 66.7% at ill from N3. One showed, that concentrations TPA grow together from spreading of neoplasm in lymph nodes, and presence of metastasis correlates with concentrations of TPA.

[Lymph nodes metastases as a first sign of cancer]. / Przerzuty do wezlów chlonnych szyi jako pierwszy objaw choroby nowotworowej.

The authors present three cases of cervical lymph nodes metastases from unknown primary lesion as a first and single sing of cancer. In follow-up the primary lesions of cancer was recognized (tonsil, hypopharynx, parotid gland). Presented patients pass through combined treatment: chemotherapy, radiotherapy and surgery with good results. Patients are in follow up of ENT Department.

Antibiotic susceptibility of Escherichia coli dnaK and dnaJ mutants.

The role of two chaperone proteins, DnaK and the cooperating factor DnaJ, in Escherichia coli antibiotic susceptibility to three antibiotics (a beta-lactam, chloramphenicol, tetracycline) has been studied. It was found that null dnaJ and dnaKdnaJ mutants are impaired in the functions leading to antibiotic susceptibility. The secretion of beta-lactamase to the periplasmic space is diminished in both mutants, and the additive effect of the two mutations was observed. The activity of chloramphenicol acetyltransferase is also impaired in an additive manner in both mutant strains. Tetracycline uptake is changed only in the double deletion mutant. These defects were observed only during incubation at high temperature (42 degrees C). Efficient complementation of some of these defects by the wild-type alleles introduced on low-copy number plasmid was achieved. Minimal inhibitory concentrations and the titer of the wild-type strains, delta dnaJ and delta dnaKdnaJ mutants treated with ampicillin, chloramphenicol, and tetracycline were also determined. Higher susceptibility of both mutants to chloramphenicol and tetracycline, as compared to their wild-type parent, was observed only after 1 h preincubation of cultures at 42 degrees C. On the contrary, both mutants were less susceptible to ampicillin than their parent strain.

[Allergology in internet]. / Alergologia w internecie.

The authors present all-Polish Internet Allergy Service www.allergen.info.pl working since February 1998. The system of mailing current allergenic pollen data to individual patients is presented. The results of Internet questionnaire filled by 4500 users of GlaxoWellcome Pollen Count Internet Service in 1998 are discussed. The authors also present possibility of cooperation for clinicians with the usage of IRC and picture and voice transmission.

Biosynthesis and secretion of several enzymes in Escherichia coli dnaK and dnaJ mutants.

Escherichia coli null dnaJ and dnaKdnaJ mutants were defective in the biosynthesis and secretion of several enzymes. The synthesis of beta-galactosidase induced in delta dnaJ and delta dnaKdnaJ mutants was abolished at 42 degrees C and significantly decreased at 30 and 37 degrees C. The activity of alkaline phosphatase in the periplasm in both mutant strains at high temperature was lower than in the wild-type strain. The synthesis of b-type cytochromes was defective in two deletion mutants while the synthesis of nitrate reductase-A at 42 degrees C was influenced by dnaK mutation only. The lack of DnaK and DnaJ does not impair the activity of catechol 2,3-dioxygenase irrespective of growth temperature.

X-linked hypophosphatemia in Polish patients. 1. Mutations in the PHEX gene.

We present twenty-nine PHEX gene mutations extending our previous work, giving it to a total of 37 different mutations identified in Polish patients with familial or sporadic X-linked hypophosphatemia. Deletions, insertions and nucleotide substitutions leading to frameshift (27%), stop codon (29%), splice site (24%), and missense mutations (20%) were found. The mutations are distributed along the gene; exons 3, 4, 11, 12, 14, 15, 17, 20 and 22 are regions with the most frequent mutation events. Four mutations, P534L, G579R, R549X and IVS15+1nt, recurred in three, four, two and three unrelated patients, respectively. They have also been detected in affected persons from other countries. Twenty-eight mutations are specific for Polish population and almost all of them are unique. Most of the identified mutations are expected to result in major changes in protein structure and/or function.

Effect of DnaK and DnaJ proteins deprivation on Escherichia coli response to starvation.

E. coli defects in response to nutritional starvation caused by DnaK and DnaJ proteins deprivation are examined. The ability of delta dnaKdnaJ mutant to survive carbon, nitrogen and phosphorus starvation is highly impaired while delta dnaJ mutant is characterized by the diminished survival of phosphorus starvation only. delta dnaKdnaJ mutant grows slowly utilizing maltose and glycerol and delta dnaJ mutant utilizes glycerol inefficiently. The growth on alternate nitrogen sources is comparable to wild-type strain.

[Evaluation of selected cellular immunity parameters in patients with seasonal allergic rhinitis]. / Ocena wybranych wskazników odpornosci komórkowej u chorych na sezonowe alergiczne zapalenie blony sluzowej nosa.

The aim of the study was the estimation of selected parameters of cellular immunity in patients with seasonal allergic rhinitis and also the estimation of histamine effect on T lymphocytes. The study comprised 240 persons--180 patients with seasonal allergic rhinitis, 30 patients with nonallergic rhinitis (positive control group) and 30 healthy persons (negative control group). In all persons the following examinations were carried on: allergic skin tests, serum level of IgE, Multitest CMI, percentage of lymphocytes T (CD3), percentage of lymphocytes T helper (CD4), percentage of lymphocytes T cytotoxic (CD8) and influence of histamine on T lymphocytes in vitro. The analysis of acquired results suggests that the inflammatory changes in patients with seasonal allergic rhinitis arose from hypofunction of T lymphocytes, especially of lymphocytes T cytotoxic (CD8) in their reaction with histamine.

[Surgical treatment of rhinophyma using CO2 laser]. / Chirurgiczne leczenie guzowatosci nosa z zastosowaniem lasera CO2.

The authors present the method of combined treatment of rhinophyma (surgery and laser CO2). The advantages of this method are good cosmetic result, small intraoperative bleeding and short time of healing the wound.

[Diagnostic value of osteotropic bone scintigraphy in maxillary sinus diseases]. / Wartosc badan scyntygraficznych znacznikiem osteotropowym w diagnostyce chorób zatok przynosowych.

The authors described the application of facial bone scintigraphy in 6 patients with acute and 47 patients with chronic sinusitis, 4 patients with cyst of maxillary sinus, 4 patients with sinus maxillary neoplasm and 4 patients with pyocele of frontal sinus. Facial bone scintigraphy was performed by gamma-camera Siemens Gammasonics ZLC-750 after intravenous administration of 15 mCi of 99mTcMDP in anteroposterior projection. The index of accumulation of the tracer (JAT) in maxillary sinus region was counted separately in men and in women in the reference group. In patients with purulent sinusitis marked JAT was predominated. Correlation between JAT and symptoms and rhinological signs has been shown in patients with chronic purulent sinusitis. In patients with sinus maxillary neoplasm high JAT was predominated.

[Squamous cell carcinoma antigen for monitoring patients with head neoplasm]. / Antygen raka plaskonablonkowego w monitorowaniu chorych na raka glowy.

The authors present results of evaluation of squamous cell carcinoma antigen (SCC) in 73 persons (35 patients with head carcinoma and 38 healthy persons as control group). We analysed a concentration of SCC in preliminary study and in monitoring, depending on clinical advances of tumour, mass of primary tumour and metastases to lymph nodes. We observed high sensitivity (SE) (63%), high specificity (SP) (97.4%) and predictive values: positive PV(+)--95.6%, negative PV(-)--74% of SCC in preliminary study. These values changed to SE--83.3%, SP--92.3%, PV(+) 90.9%, PV(-)--85.7% in monitoring. Our results indicate that evaluation of SCC have high value in monitoring patients with head carcinoma.

[Gastrointestinal cancer antigen and immunoglobulins G, A, M in patients with head cancer]. / Ocena surowiczych stezen antygenu zoladkowo-jelitowego (Ca 19-9) oraz immunoglobulin G, A, M u chorych z nowotworami zlosliwymi glowy.

The authors present the results of examinations of immunoglobulins A, G, M serum concentrations and of a sensitivity of test of biochemical tumor marker (Ca 19-9) in a group of 35 patients with head malignant tumors. There was a statistically significant increase of immunoglobulins IgA, IgG and decrease of immunoglobulin IgM. We observed statistical correlation between serum concentrations of IgA, IgG and serum concentrations of IgA, IgM. The sensitivity of Ca 19-9 was 23% in the preliminary study. The values of Ca 19-9 changed in monitoring of tumors to 26%. There was a statistically significant correlation between sensitivity of Ca 19-9 and serum concentration of IgM. We did not observe any statistical correlation between Ca 19-9 and the age of patients.

[Pleomorphic adenoma of the parapharyngeal space: a case report]. / Przypadek gruczolaka wielopostaciowego przestrzeni przygardlowej.

The authors described a case of parapharyngeal space pleomorphic adenoma in a 22-year-old patient. The excision of the tumor through the mouth, without cutting up the jaw bone, turned out safe and radical.