Die biochemische Frühdiagnose der Cystinose aus kultivierten Fibroblasten

Zusammenfassung Mit Hilfe der kultivierten Fibroblasten aus Hautbiopsiematerial gelingt es, vor dem Auftreten anderer biochemischer Veränderungen zu klären, ob in einer mit Cystinose belasteten Familie ein junger Säugling, der noch keine klinischen Symptome bietet, an Cystinose leidet. Das Cystin erreicht in den Fibroblasten Cystinosekranker Konzentrationen von etwa 5–11 Mol1/2 Cystin/g Protein, während normale Fibroblasten nur Spuren von Cystin enthalten. Damit ist eine verläßliche Methode zur Frühdiagnose gegeben, die eine diätetische Therapie zu einem Zeitpunkt erlaubt, wo die irreversible Tubulopathie noch gering ist.

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Summary It is possible to diagnose cystinosis in young infants from families, where cystinosis is known, by culturing fibroblasts from skin biopsy material before any biochemical or clinical symptoms are evident. Fibroblasts from patients suffering from cystinosis show a high content of about 5–11 Mol1/2 cystine/g protein, while normal fibroblasts only have traces of cystine.This is a very reliable method for early diagnosis and dietetic therapy can be started before any damage has been done to the tubuli.

     

Dimerization and polymerization of butadiene with zero-valent nickel and protonic acids

The behavior of hydridonickel coordination compounds as catalysts for the oligomerization and polymerization of butadiene in various solvents was studied. In the presence of alcohol bis(tricyclohexylphosphine)chlorohydridonickel ( 4 , X = Cl) (HNiCl[P(C₆H₁₁)₃]₂) catalyzes the linear dimerization. With hydridotetrakis(phosphite)nickel(1+) ( 2 ) ([HNi{P(OR)₃}₄]⁺), which is prepared from tetrakis(phosphite)nickel ( 1 ) (Ni[P(OR)₃]₄) and trifluoroacetic acid, dimerization occurs in sec-alcohol but there is no reaction in tert-alcohol. The main product is 2-methylenevinylcyclopentane ( 8 ). The other products are 4-vinylcyclohexene ( 10 ), 1,5-cyclooctadiene ( 5 ), 1,3,7-octatriene ( 7 ) and 1,3,6-octatriene ( 9 ). The hydridonickel coordination compound, prepared with inorganic acids, does not afford the dimers but the 1,4-trans polymer.     

Candidate cytomegalovirus strain for human vaccination.

A strain of human cytomegalovirus called Towne was isolated in WI-38 human fibrolast cell cultures from the urine of an infected infant. It was then passaged 125 times in WI-38, including three clonings, and a pool was prepared in the same cell substrate for use as a potential live attenuated vaccine. The Towne virus has a broad antigenicity and cross-reacts with the AD-169 strain. Several markers of the Towne virus were found which differentiated it from fresh isolates. One of these was resistance of the former to trypsin. The Towne virus was tested for freedom from oncogenicity or other harmful effects in preparation for tests in humans.     

Denervation of dopaminergic neurons with 6-hydroxydopamine increases nerve growth factor content in rat brain.

Denervation of dopaminergic neurons by intra nigral injection of 6-hydroxydopamine (6-OHDA) increased nerve growth factor (NGF) content in the cortex and hippocampus, both of which are innervated by cholinergic neurons. The increase continued during an observation period of 0.5-28 days after the lesion. The time course of changes in NGF content was quite different from that of cholinergic neuron denervation. The decreased dopamine content produced in the striatum by 6-OHDA injection was not recovered during the observation period. These results suggest that dopaminergic neuron damage may affect NGF synthesis.     

ASO Author Reflections: Perspectives of Laparoscopic Hepatectomy with Venous Tumor Thrombectomy for Hepatocellular Carcinoma

Annals of Surgical Oncology -     

ASO Author Reflections: Laparoscopic Arantius’ Approach as Shortcut Access for Major Hepatic Veins

Annals of Surgical Oncology -     

“Quadriceps myopathy”: a clinical variant form of becker muscular dystrophy

Summary A 26-year-old male with quadriceps myopathy is presented. He had a family history and only the bilateral quadriceps were wasted, without symptomatic weakness. The specimen of the muscle biopsy showed typical myopathic features without inflammatory reactions. The patchy defect of muscular dystrophin was proved by immunohistochemical study. Dystrophin analysis revealed abnormal 380 kDa dystrophin. Gene deletion was proved at exon 45–48 of Xp21 without frameshift. This case was considered to be a clinical variant form of Becker muscular dystrophy.