Histioeosinophilic granulomas in the thymuses of 29 myasthenic patients: A complication of pneumomediastinum

Nodular aggregates of histiocytes and eosinophils, described as "histioeosinophilic granulomas," were found in the capsules and septa of 29 of 63 nonneoplastic thymuses (45 per cent) removed from patients with myasthenia gravis. The configurations and cytologic appearances of the lesions resembled those of eosinophilic granuloma, but a combination of morphologic, immunohistochemical, and ultrastructural studies failed to demonstrate a Langerhans' cell component in these lesions. This heretofore unrecorded thymic lesion might represent the thymic counterpart of a pleural process that has been described as "reactive eosinophilic pleuritis" in patients with spontaneous pneumothorax and was probably induced by diagnostic pneumomediastinum performed prior to thymectomy. It is of interest, however, that the presence of these granulomas was correlated with an increased probability of remission of myasthenic symptoms following thymectomy.     

Thirty-year survival with an untreated malignant duodenal somatostatinoma

Gastrointestinal somatostatinomas are rare. Only 56 cases with duodenal origin have been reported in the literature. The long-term course of an untreated tumor like this is unknown. We report a case of a male patient who lived 30 yr with an untreated metastatic duodenal somatostatinoma. This case suggests that a duodenal somatostatinoma may be of low malignant potential and that expectancy when treating this tumor might be indicated.     

Absence of chromosome heterogeneity between classical Fanconi's anemia and the Estren-Dameshek type

Chromosome investigations were carried out in 7 patients with Fanconi's anemia, type Estren-Dameshek. The frequency and types of chromosome instability found in cultured lymphocytes were in accord with those detected in individuals with classical Fanconi's anemia. The break-point distribution indicates a significant excess of breaks in chromosomes No. 1, 2, and 7 and a deficit in No. 18 and X and Y chromosomes. There was a clear clustering of breaks at certain locations in chromosomes No. 1, 2, 3, 7, 9, and 14. The location of the breaks with respect to the bands demonstrated an almost exclusive involvement of the lighter bands, regardless of the banding method used. These results suggest that most breaks take place in the interbands between the G and R bands. In all patients, chromosome instability was less frequent in direct bone marrow preparations than in lymphocyte cultures. However, cultured bone marrow cells showed a significant increase of chromosome aberrations. On the whole, the chromosome data derived from this series of patients are in agreement with those obtained in individuals with classical Fanconi's anemia and give no support to the idea of cytogenetic heterogeneity between subjects affected by these two forms of childhood aplastic anemia.     

Versuche einer passiven Übertragung der Tuberkuloseimmunität an Schafen

Ohne Zusammenfassung     

Confirmation of the mandibulofacial dysostosis,toriello type

We report the seventeenth case of the recessive form of the DOOR syndrome. The parents were Guatemalan and not known to be consanguineous. The patient had developmental delay, severe sensorineural deafness, and abnormal nails and phalanges in the hands and feet. Urinary 2-oxoglutarate excretion was normal. The patient was among a subset of DOOR syndrome patients may be useful in discussing the prognosis for newly identified cases. © 1993 Wiley-Liss, Inc.     

Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism

Parkinson's disease (PD) is a progressive neurodegenerative illness associated with a selective loss of dopaminergic neurons in the nigrostriatal pathway of the brain. Despite the overall rarity of the familial forms of PD, the identification of single genes linked to the disease has yielded crucial insights into possible mechanisms of neurodegeneration. Recently, a putative mitochondrial kinase, PINK1, has been found mutated in an inherited form of parkinsonism. Here, we describe that PINK1 mutations confer different autophosphorylation activity, which is regulated by the C-terminal portion of the protein. We also demonstrate the mitochondrial localization of both wild-type and mutant PINK1 proteins unequivocally and prove that a short N-terminal part of PINK1 is sufficient for its mitochondrial targeting.     

CHARGE syndrome: developmental and behavioral data

Kabuki syndrome (KS) is associated with multiple organ system involvement. Characteristic features include long palpebral fissures with everted lower lids, prominent ears, skeletal abnormalities, mental retardation, and short stature. An increased incidence of infection has been reported in KS, and a few patients have been noted to have immune defects. However, the frequency and severity of the immune deficiency has not been clearly defined. Immunologic evaluation of 19 consecutive individuals with KS was performed at The Children's Hospital of Philadelphia. Decreased IgA levels were noted in 15/19 individuals (79%), 2 of whom had undetectable levels. Eight patients (42%) also had low total IgG levels. Specific IgG subclass abnormalities were found in 6 of 13 patients evaluated. IgM levels were less frequently decreased. One patient failed to generate anti-tetanus antibodies despite immunization. This study suggests that hypogammaglobulinemia is a frequent finding in children with KS. The pattern of antibody abnormalities seen in children with KS resembles common variable immune deficiency (CVID). Due to this increased susceptibility to infection, children with KS should have immunologic evaluations at the time of diagnosis in order to reduce preventable morbidity and mortality.