Kazuso Iinuma

Triple marker screening in native Japanese women

Prenatal screening using the maternal serum markers alpha‐fetoprotein, human chorionic gonadotropin, and unconjugated oestriol was investigated in a native Japanese population. Comparison with a Caucasian U.S. population revealed differences which led to modification of the generally used equations for risk calculations. Prenatal screening was shown to be clinically useful.

Agreement between predicted risk and prevalence of Down syndrome in second‐trimester triple‐marker screening in Japan

Based on 9350 pregnant Japanese women who were screened by serum triple‐marker determination, accuracy of predicted risk for Down syndrome was examined using 24 Down syndrome cases detected either prenatally or postnatally. The correlation is statistically very high (r=0·98) between the predicted risks and the prevalence of Down syndrome cases. Here we emphasize that this could be accomplished only by an extensive follow‐up study, implemented in our prospective intervention programme.

Hajdu-Cheney syndrome

SummaryHajdu-Cheney syndrome is a rare type of syndrome characterized by acro-osteolysis, dolichocephaly with multiple Wormian bones, absence of frontal sinuses and joint laxity. A case of this syndrome is presented. A histological study of the osteolytic lesion revealed destruction characterized by microfractures with a poor reparative process. It is postulated that an abnormality of osteoblast or osteoid function is the pathogenesis of this syndrome.ZusammenfassungEs wird über einen Fall von Hajdu-Cheney-Syndrom bei einem 16jährigen Knaben berichtet. Das Syndrom ist hauptsächlich charakterisiert durch Akroosteolysen, Dolichocephalie mit multiplen Wormschen Schaltknochen, offenen Schädelnähten, fehlenden Stirnhöhlen und Schlottergelenke. Histologisch ist die Destruktion im Bereiche der Akroosteolysezonen durch zahlreiche Mikrofrakturen und geringe reparative Vorgänge charakterisiert. Die Autoren diskutieren als Pathogenese des Syndroms eine Störung in der Funktion der Osteoblasten oder im Osteoid.

Three Translocations Involving C- or G-group Chromosomes

Three translocations each involving C or G chromosomes are reported. A familial translocation t(Cq+; Eq−) was identified to be rcp(6;18) (q2;q1) and two malformed children were then found to have a 46,XY(or XX),−6, +der(6) constitution. One of the carriers pregnancy in this family was monitored by amniocentesis and a fetus was identified as being a male translocation carrier (balanced). Two other translocations were identified as rcp(11;14) (q12 or 13;q32?) and t(17;22) (p12 or 13?;q11?), respectively.

Familial cases of Down's syndrome a psu dic (21) (q22) and a rob (14q21q) in cousins

SummaryA patient is described of a girl aged 6 months with typical features of Downs syndrome. Chromosomal studies revealed a 46,XX,-21,+psu dic(21) (pter→cen→q22::q22→pter) karyotype. A maternal cousin also had Downs syndrome. His karyotype was 46,XY,-14,+rob(14q21q).

Screening with Monoclonal Anti Beta-Protein Antibody for Immuno-Reactivity in the Sera of Patients with Alzheimer’s Disease

A monoclonal antibody(aSP01) and a polyclonal antibody was raised against a synthetic peptide corresponding to residues(N:1-10, SP01) of the beta-protein. Using the aSP01 and sandwitch ELISA technique immunoreactivities in sera were determined for four groups, three affected(Alzheimer’s disease, senile dementia of Alzheimer’s type(AD/ SDAT), multi-infarct dementia(MID), dementia of not otherwise satisfied (NOS)), and a non-affected group. Whereas a high value in the cross-reactivity was observed on AD(35.11±7.91), relatively low values were obtained for the latter groups(MID; 16.76±2.58, N0S;13.28±2.20, non-demented; 14.41 ±.1. 94) • No difference in the mean value of the CRM was shown between male and female groups(male;16.04±3.51, female; 14.99±2.47). Practically no correration was observed between the age and CRM of the two affected groups(AD;r=-0.0585, MID;r=0.0353)and non-affected group(r=0.2758).

Preparation of a Monoclonal Antibody Against a Synthetic Brain Amyloid Beta Peptide(N1–10) and Distribution of an Immunoreactivity in Serum

Alzheimer’s disease(AD) is a progressive neurodegenerative disorder of the human central nervous system characterized by formation of neurofibrillary tangles(NFT), senile(neuritic) plaques, and cerebrovascular amyloid-osis1,2,3. The mature senile plaques(SP) consist of degenerating neurites surrounding a core(SPC) of proteinaceous filaments which have structural properties of amyloid. Similar filaments are also found in the walls of meningeal and intracortical blood vessels(CVA). The initial isolation and partial sequencing of a 4.2kD polypeptide(called β protein or A4 peptide) reported for amyloid isolated from extraparenchymal meningeal vessels in AD aswell as in Down’s syndrome(DS)4 and, subsequently, from SPC. These findings suggesting a common origin for both types of amyloid, may also indicate that a common or a very similar mechanism may involve in the formation of amyloid in AD and DS. Recently, the base sequence has been determined by several laboratories of a cDNA for a precursor amyloid β protein6,7 Subsequently, the gene has been mapped in the vicinity of theSOD locus on chromosome 21. The putative precursor of amyloid β protein consists of 695 amino acid residues and has a structure characteristic of a cell surface receptor.