Candida albicans clinical isolates inactivated by formalin with different adherence to buccal epithelial cells induce proinflammatory and regulatory cytokines in human peripheral blood mononuclear cells

Besides the activation of phagocytes, the release of cytokines is the most important immunological defence mechanism of an organism against infection with Candida albicans. On the other hand cytokines induced in the organism by the yeast itself are able to modulate the immune responses of the host. We investigated whether eight clinically isolated strains of C. albicans inactivated by formalin as well as a laboratory strain were able to induce proinflammatory and regulatory cytokines in peripheral blood mononuclear cells (PBMC) of four different donors. Under our assay conditions the yeast strains induced the cytokines interleukin-1 beta (IL-1 beta), interferon-gamma (IFN-gamma) and interleukin-10 (IL-10) in PBMC to varying extents, but not the cytokine interleukin-4 (IL-4). We observed a difference in the reaction of the individual donors to the stimulus C. albicans but on the other hand the extent of the cytokine signal seemed to be dependent on the yeast strain as well. No correlation was found between the ability of the individual C. albicans strains to induce cytokines in PBMC and their ability to adhere to buccal epithelial cells. Determination of the cytokine induction potential of C. albicans strains possibly may contribute to the detection of new virulence factors of this yeast.     

Diaphragmatic hernia in a female newborn with focal dermal hypoplasia and marked asymmetric malformations (Goltz-Gorlin Syndrome)

We report a female newborn with focal dermal hypoplasia (Goltz-Gorlin Syndrome) and marked asymmetric malformations on the right side of the body. Diaphragmatic hernia on the same side, which has not been reported in this syndrome, led to perinatal complications.     

Male infant with cat cry syndrome and apparent absence of the Y chromosome

We report a boy with cri-du-chat syndrome and apparent absence of the Y chromosome.The karyotype is interpreted as 45,X,del(5)(qterp13:). The boy has normal male external genitalia and bilateral testes although no Y chromosome was found in lymphocytes or fibroblasts.Dedicated to Prof. Dr. H.-R.Wiedemann on the occasion of his 65th birthday     

Klinische,biochemische, morphologische und elektrophysiologische Untersuchungen bei einer kindlichen Glykogenese Typ II mit zweifachem Enzymmangel

Zusammenfassung In der vorliegenden Arbeit wird über klinische, biochemische, morphologische und elektrophysiologische Untersuchungen bei einem im Alter von 13 Monaten an einer Glykogenose Typ II verstorbenen Kinde berichtet. Neben dem für das Krankheitsbild typischen -1,4-Glucosidase-Mangel ließ sich außerdem in Skeletmuskulatur, Herz und Leber erstmals ein zusätzlicher Hyaluronidasedefekt nachweisen. Im Gegensatz dazu zeigten die -Glucuronidase und -Actylglucosaminidase erheblich erhöhte Aktivitäten. Von Glykogen deutlich färberisch und elektronenmikroskopisch unterscheidbar war in der Muskulatur die Ablagerung einer weiteren Substanz festzustellen, wobei es sich um ein saures Mucopolysaccharid handeln dürfte. Ein pathogenetischer Zusammenhang mit dem Hyaluronidasedefekt liegt nahe.

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Clinical, biochemical, morphological and electrophysiological studies of glycogenosis typ II in childhood with douple deficiency of enzymes

The clinical, biochemical, morphological and electrophysiological findings in a 13-month-old child, who died of glycogenosis type II, is presented. In addition to the deficiency of -1,4-glucosidase, which is typical for the disease, a deficiency in hyaluronidase could be detected for the first time in the skeletal and heart muscles and in the liver. On the other hand, the -glucoronidase and -acetylglucosaminidase activity was highly increased. Deposits of a substance, most probably an acid mucopolysaccharide, which could be differentiated from glycogen by chromography and electronmicroscopy, could be detected in the muscle. A pathogenetical connection with the hyaluronidase defect is imminent.

Herrn Prof. Dr. F. H. Dost zum 65. Geburtstag gewidmet.     

Diastrophische Dysplasie

The case report presents a 25-year-old woman who got pregnant twice in 1 year. Both pregnancies were terminated after ultrasound examination demonstrated limb abnormalities. Radiological and pathological examinations showed diastrophic dysplasia, a rare form of an osteochondrodysplasia with autosomal recessive inheritance. Here the histopathological findings in the cartilage and prenatal diagnosis by ultrasound are discussed.     

Cytomegalovirus associated oral ulcerations in HIV-infected patients

Oral ulcerations associated with disseminated cytomegalovirus (CMV) infection were observed in four patients with AIDS manifestations showing low CD4 counts. Virus cultures of urine and saliva samples were positive for CMV in all cases. The lesions were characterized by a punched-out appearance, non-indurated borders, low bleeding tendency and lack of inflammatory wall. Light microscopy revealed granulation tissue containing "owl's eye" like cells in all specimens. Presence of CMV was confirmed by immunohistochemistry and in situ hybridization. The ulcerations were infiltrated with T-lymphocytes of the helper, suppressor and cytotoxic subset, most were positive for HLA DR. Despite the local invasion with immunocytes and high serum titers of serum antibodies the patients experienced progressive CMV disease.     

Influence of clinical status on the association between plasma total and unbound bilirubin and death or adverse neurodevelopmental outcomes in extremely low birth weight infants

Objectives: To assess the influence of clinical status on the association between total plasma bilirubin and unbound bilirubin on death or adverse neurodevelopmental outcomes at 18–22 months corrected age in extremely low birth weight infants. Method: Total plasma bilirubin and unbound bilirubin were measured in 1101 extremely low birth weight infants at 5 ± 1 days of age. Clinical criteria were used to classify infants as clinically stable or unstable. Survivors were examined at 18–22 months corrected age by certified examiners. Outcome variables were death or neurodevelopmental impairment, death or cerebral palsy, death or hearing loss, and death prior to follow‐up. For all outcomes, the interaction between bilirubin variables and clinical status was assessed in logistic regression analyses adjusted for multiple risk factors. Results: Regardless of clinical status, an increasing level of unbound bilirubin was associated with higher rates of death or neurodevelopmental impairment, death or cerebral palsy, death or hearing loss and death before follow‐up. Total plasma bilirubin values were directly associated with death or neurodevelopmental impairment, death or cerebral palsy, death or hearing loss, and death before follow‐up in unstable infants, but not in stable infants. An inverse association between total plasma bilirubin and death or cerebral palsy was found in stable infants. Conclusions: In extremely low birth weight infants, clinical status at 5 days of age affects the association between total plasma bilirubin and death or adverse neurodevelopmental outcomes at 18–22 months of corrected age. An increasing level of UB is associated a higher risk of death or adverse neurodevelopmental outcomes regardless of clinical status. Increasing levels of total plasma bilirubin are directly associated with increasing risk of death or adverse neurodevelopmental outcomes in unstable, but not in stable infants.