Immunotherapy (hypo-/desensitization) in allergic diseases (author's transl)

The aim of hyposensitization therapy is to achieve an allergen tolerance. The solutions for hyposensitization are available as water soluble, semi-depot or depot allergen extracts. The strengths of the solutions are given in the following units: PNU (protein nitrogen units), w/v (weight/volume) and HEP (histamine equivalent in pricktesting). A comparison between the units is of limited value, as no information about the immunological potency is possible. Most experience centres on the parenteral allergen application, but recently oral hyposensitization has gained ground. The hyposensitization treatment can be performed in the conventional manner or in the form of a rapid hyposensitization. The length of treatment is at least 2 years. The assessment of the therapeutic efficacy of the treatment can be achieved by the history of natural allergen exposition, provocation tests on the target organs, the course of the allergen specific IgG and IgE antibodies as well as testing the histamine release from leukocytes. Further improved efficacy, shortening of the course of immunisation and the elimination of side effects should be developed.     

Congenital hereditary lymphedema (Nonne/Milroy)

A 36-year-old man, with his children, a three-year-old girl, and a five month-old boy, suffering from congenital hereditary lymphedema, were the subjects of the present study. The man and his wife, were distant relatives. All the other family members of the two sides were apparently healthy.     

13q-/r(13) mosaicism

A 2-month-old female infant with typical features of the 13q- syndrome was found to be a hitherto unreported mosaic consisting of 46,XX,del (13)(q22)/46,XX,r(13)(p13q22). She has not been able to maintain normal values of serum Na and Cl since the second day of life: this may be induced by cerebral dysgenesis.     

Positron emission tomography/computed tomography (PET/CT) in children

Although PET imaging has been available for more than two decades, its use has greatly increased lately due to the advent of PET/CT, readily available sources of commercially supplied FDG, and mobile scanners. These features have enabled PET scanning to expand beyond select major university medical centers, with on-site cyclotron facilities to smaller institutions including free- standing children's hospitals. In these settings, imaging is generally limited to FDG, which suffices for most applications, with the majority of studies performed for tumor imaging. FDGI is being used for evaluation of many tumors in children, with its use in lymphoma being the most established. In lymphoma, it has proven quite useful in determining whether active tumor is present in residual masses following treatment, which may otherwise contain only residual fibrous tissue. For brain tumors, FDGI has some relation to tumor grade, although its more important role is distinguishing recurrent or residual tumor from the effects of treatment, particularly radiation necrosis. For neurological evaluation, interictal FDGI is helpful in localizing potential seizure foci for subsequent subdural EEG monitoring. Because of the relatively long uptake time of FDG, true ictal studies cannot be performed with FDG, and these remain within the domain of SPECT imaging of tracers such as Tc-99m HMPAO. Examinations utilizing radiopharmaceuticals other than FDG are significantly more limited in their availability and are limited to PET centers with on-site cyclotrons. However, these additional agents open the door to many additional studies, including more specific tumor-imaging agents of certain tumors such as neuroblastoma. Another neurotransmitter, F-18-fluoro-L-dopa, is of benefit outside of the central nervous system for evaluating infantile hyperinsulism. The use of PET/CT in children is increasing quickly, particularly FDGI imaging of tumors. It is expected that over the next few years, its role will become increasingly better defined.     

Role of high‐dose chemotherapy (HDCT) in treatment of atypical teratoid/rhabdoid tumors (AT/RTs)

Atypical teratoid/rhabdoid tumors (AT/RTs) of the CNS have been recently characterized as a distinct clinicopathologic entity with an unusually poor prognosis and with the highest incidence in the first 2 years of life. It often arises in the posterior fossa and its distinctive immunohistochemical (negative stain for INI‐1) and cytogenetic features (monosomy or deletion of chromosome 22) permit an adequate diagnosis in most of cases. AT/RT of the CNS is a usually fatal disease virtually unresponsive to chemotherapy (CT) and radiotherapy (RT). Rapid progression and CNS dissemination are commonly reported. Whether combined regimens including high‐dose CT are able to prolong survival or change the natural history of this tumor are under evaluation. Pediatr Blood Cancer 2010;54:647–648. © 2010 Wiley‐Liss, Inc.     

The RB (pRb2/p16) and p53 (p14/p53/p21) tumor-suppressor pathways in endemic Burkitt lymphoma

Burkitt lymphoma accounts for approximately 50% of pediatric cancers in equatorial Africa and a majority of NHL in Uganda. The aim of the study was to examine the expression profile of the RB (pRb2 or p16) and p53 (p53, p14, or p21) pathways in biopsies of endemic BL, and compare it to the pattern found in reactive lymphoid hyperplasia (RLH). A total of 51 BL and 10 RLH biopsy specimens were included in the study. p16 expression was found in 8 (16.3%) BL and 2 (20%) RLH cases. p27 was revealed in 29 (65.9%)BL and 9(90%) RLH cases, whereas 29(59.2%) BL and only 1 RLH expressed p53. Positivity for pRb2 was found in 42 (84.0%) of the BL and 8(80%)of the RLH cases. p21 and p14 were negative in all BL and RLH cases. In conclusion, our data indicate that heterogeneous RB (pRb2 or p16) and p53 (p53, p14, or p21) pathway alterations occur frequently in BL. Except for a much higher frequency of p53 protein expression in BL, close similarities were found between BL and RLH.     

Starke allergische Hautreaktion nach der Poliomyelitis-Schluckimpfung (Typ I/II/III)

Zusammenfassung Bei einem 7 Jahre alten Mädchen wird eine starke allergische Hautreaktion 1 Tag nach der zweiten Poliomyelitisschluckimpfung mit einem maculösen und bullösen Exanthem geschildert, das vor allem im Gesicht, an den Händen und den Fußrücken lokalisiert war. Das Kind hatte anfangs erhöhte Temperatur, wurde während der folgenden Tage vielleicht durch die Behandlung fieberfrei. Es bestand außerdem eine Thrombopenie. Unter Cortison- und Antibioticatherapie klang das Exanthem rasch ab, die Bläschen, platzten oder trockneten ein. Das Mädchen konnte geheilt nach 8 Tagen stationären Aufenthaltes entlassen werden. Ähnliche Hautreaktionen, die in der Literatur angegeben sind, werden geschildert.

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Summary A strong allergic cutaneous eruption in a 7 years old girl after vaccination with Sabinvaccine (Typ I/II/III) is described. A vesicular and macular exanthema was seen, specially on the face, hands and the upperside of the feet. At first the child had fever, on the following day it was free from fever and in a good condition. The exanthema faded away after treatment with corticoids and antibiotics; the girl was cured and could be discharged from hospital 8 days later.

     

A case with proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H) associated with urogenital anomalies

Malformations of the lower limbs are rare and heterogeneous anomalies. Some congenital anomalies involving face, gastrointestinal system, skeletal system, urogenital system, heart, lung and diaphragma associated with lower limb malformations have been described in the literature. Here, we report a case of left proximal femoral focal deficiency (PFFD) together with fibular aplasia associated with left undescended testis and hypospadias. The putative embryologic mechanisms of lower limb defects and their possible association with lower urogenital tract malformations are also discussed.     

Hydrocephalus manifestation in the genetic polydactyly/ arhinencephaly mouse (Pdn/Pdn)

ABSTRACT  The genetic polydactyly/ariiinencephaly mouse, Pdn/Pdn , exhibits severe polydactyly both in the fore-and hindlimbs, hydrocephalus, and agenesis of the olfactory bulbs, corpus callosum, and anterior commissure. The mechanism of hydrocephalus manifestation in Pdn/Pdn was investigated in the present study. Ink was injected into the left lateral ventricle in the Pdn/Pdn and +/+ newborn mice. After incubation at 32°C for different time intervals, the heads were fixed in Bouin's solution and were subsequently decalcified in 0.5 mol/L of EDTA solution, paraffin sectioned, and stained with hematoxylin and eosin.
Ink spread into the 3rd and right lateral ventricles and flowed to the 4th ventricle and Magendie's foramen rapidly in Pdn/Pdn mice. This rapid spread was due to the dilatation of the interventricular foramen and that the lateral ventricle was directly connected with enlarged 3rd ventricle in Pdn/Pdn. In spite of the rapid spread of ink in the cerebrospinal fluid pathway, ink was not observed in the subarachnoid space around the superior sagittal sinus at 3.5 or 10 hours in Pdn/Pdn mice.
The superior sagittal sinus was narrower in Pdn/Pdn than in +/+, and the arachnoid villi were not observed in Pdn/Pdn. From these observations, we suggested that absorption of cerebrospinal fluid from the arachnoid villi in the superior sagittal sinus stagnated and that stagnation of the fluid in the ventricles was the cause of hydrocephalus in Pdn/Pdn mice.     

BALANCED (2q-; 14q+) TRANSLOCATION

A child presented at 6 years of age with virilization presumed due to maternal progesterone therapy during pregnancy. She was found to have a balanced translocation involving chromosomes 2 and 14.     

Double heterozygosity (transferase-/epimerase-defect) and galactosemia cataract

The mother of a boy who suffered from classical galactosaemia (galactose-1-phosphate uridyl transferase deficiency) has unilateral cataracta. In addition the boy had a decreased activity of the UDP-galactose-4-epimerase. The latter defect could also be demonstrated in the erythrocytes from the mother and the grandmother. In contrast to the finding of cataracta in the mother the grandmother with the same type of double heterozygosity was ophthalmologically normal. The implication of partial maternal disorders of galactose metabolism will be discussed in view of their possible role for the origin of cataracta.     

Das Aneurin (Vitamin B1)

Ohne ZusammenfassungMit 3 Abbildungen.