A modified thionin acridine-orange stain for mast cells.

For in vitro studies in mesentery, toluidine blue and thionin dyes are generally used. We have tried thionin and acridine orange stains and found it to be good as it showed good colour contrast between mast cells and the background tissue. The two dyes were selected to give good colour contrast.

Fabrication of large-aperture lightweight diffractive lenses for use in space.

We describe the advantages of using diffractive (Fresnel) lenses on thin membranes over conventional optics for, among others, future space telescope projects. Fabrication methods are presented for lenses on two types of freestanding membrane up to 50 cm in size. The first is a Fresnel lens etched into a thin (380-microm) glass sheet, and the second is an approximately 50-microm-thick polymer membrane containing a Fresnel lens made by replication process from a specially made fused-silica master. We show optical performance analysis of all the lenses that are fabricated, including a diffraction-limited Airy spot from a 20-m- focal-length membrane lens in a diffractive telescope system.

An unusual case of haemophilia--a case report.

Haemophilia in a female is very rare. We report a case of haemophilia in a female with a male sex chromosome pattern.

Dermatoglyphics in 46, XY females.

Dermatoglyphics is known to be one of the best available diagnostic tools in genetic disorders. This paper aims to find out the diagnostic characteristic dermatoglyphic features in cytogenetically confirmed 46, XY female patients. The total number of patients studied (46, XY females) were 31 and the control consisted of 30 males and 30 females. Dermatoglyphic features, studied and tabulated, were: (a) Finger pattern frequency, (b) total finger ridge count (TFRC), absolute finger ridge count (AFRC), a-b ridge count, 'atd' angle and (c) palmar patterns eg, simian crease, Sydney line, hypothenar pattern, interdigital patterns. Results confirmed significant differences between the 46, XY females and the control groups: (i) 46, XY females had increased ulnar loops but decreased whorls as compared to control males (overall finger pattern frequency). (ii) The right thumb in 46, XY females had less whorls and more ulnar loops than both male and female control groups (individual finger pattern frequency). (iii) 46, XY females had lowered TFRC, AFRC, a-b ridge count than corresponding control groups (both control males and females). Significant differences were not observed for the 'atd' angle, interdigital patterns, hypothenar pattern, simian crease and Sydney line.

Primary amenorrhea with Xq duplication.

Two female patients aged 16 and 17 years with Turner features short stature, amenorrhea and gonadal dysgenesis were referred for cytogenetic confirmation and counselling. Their karyotypes were 46, X, dup (X) (q13-->q22). The clinical and the cytogenetic picture have been correlated.

Partial 1q and 21p trisomies in a male child due to maternal t(1;21).

Proband 7 years old male child referred for cytogenetic investigation revealed 47, XY + der (21), t(1;21) (q32;q11) mat.

Structural chromosomal anomaly in mental retardation.

This article reports the structural chromosomal anomaly in three patients with mental retardation: (i) Proband was a five year old girl with reciprocal retardation (1; 2) (p32; q11) (ii) Proband, female of 14 years. Her karyotype showed translocation (1; 3) (q42; q13). The translocations were de novo in origin (iii) Proband showed variant 13 as the giant satellite over its short arm, and this was paternal in origin. Proband, eighteen months old male child had microcephaly and seizures. These two features may be because of autosomal recessive condition. This report emphasises the need for kayotyping to provide a clear cut diagnosis and appropriate counselling.

A simple device for embalming cadavers.

A simple design of a mobile embalming unit is presented that offers better quality embalming and is fairly economical. The technique is faster and consistently more reliable than the conventional gravity aided embalming.

Consanguinity, non-disjunction, parental age and Down's syndrome.

The effect of consanguinity on the non-disjunction mechanism in Down's syndrome, was examined in 417 cytogenetically confirmed Down's syndrome patients. The incidence of parental and grandparental consanguinity was 17.5% (n = 73), while that of only parental consanguinity was 17.2% (n = 71). First cousin marriages occurred more frequently, than uncle-niece and 2nd cousin marriages. With regard to parental age, only the mean age difference between consanguineous couples significantly differed from non-consanguineous couples. The inbreeding coefficient did not differ between trisomy 21 and translocation Down's families. From this study, it is concluded that consanguinity does not predispose to Down's syndrome.

Down syndrome with biparental inheritance of der(14q21q) and maternally derived trisomy 21: confirmation by fluorescent in situ hybridization and microsatellite polymorphism analysis.

Individuals with translocation Down syndrome (DS) often inherit the rearranged chromosome from a carrier parent. DS due to inheritance of one Robertsonian or derivative (14q21q) from one parent and a second der(14q21q) in addition to a free chromosome 21 from the other parent are rarely documented in liveborn infants. Presented here is such a propositus with DS and with a unique karyotype 45,XY,der(14;21) (p11.1;p11.1)pat,der(14;21)(p11.1;q11.1)mat, +21mat. Using conventional chromosome heteromorphisms, fluorescent in situ hybridization (FISH), and microsatellite polymorphism analyses, we established the biparental origin of the 2 der(14q21q) and the maternal origin of the extra chromosome 21 in the patient. A combination of both cytogenetic and molecular genetic techniques also enabled us to show that the 2 der(14q21q) were not identical by descent and hence the parents were nonconsanguineous. It has been a well-established fact that mothers with Robertsonian translocations have higher risk for nondisjunction than do carrier fathers. Our case, wherein the nondisjunctional event occurred in the mother, even though both parents are carriers of a 14;21 Robertsonian translocation, is yet another example of this.

Down syndrome associated malformations.

This paper reports the associated malformations and the clinical findings that were observed in 417 cytogenetically confirmed Down Syndrome patients. Among them congenital heart defects have occurred more frequently [75; 17.98%] than osteoarticular malformations [23; 5.52]; eye anomalies [22; 5.27%]; and gastroenterological malformations [n 16; 3.84%]. With regard to prognosis and treatment appropriate counselling has been given to Down Syndrome patients and their families.

Finger ridge count and finger print pattern in maturity onset diabetes mellitus.

Total finger ridge count, absolute finger ridge count and finger print pattern were studied in 150 maturity onset diabetes mellitus patients and compared to 120 controls. Significant findings were: in males, with both hands combined and separately (i) an increase in radial and ulnar loops and arches (ii) A decrease in whorls. (iii) In females, an increase in ulnar loops and a decrease in whorls in the left hand was observed.

Frequency of cervical spine involvement in rheumatoid arthritis.

The cervical spine x-rays of a random number of patients with confirmed rheumatoid arthritis were taken. The presence of atlanto-axial subluxation, atlanto-axial impaction, subaxial subluxation and any other associated abnormalities was noted. The spinal canal diameter was also measured which was not significantly altered in rheumatoid arthritis cases. Cervical spine disorders were seen to occur in 16 cases (69.6%) out of 23 patients. Spondylosis was the most frequent disorder ie, in 10 cases (62.5%) out of 16. Obliteration of the normal lordotic curve and disc lesions occurred in 3 cases (18.7%) each out of 16. The mean spinal canal diameter was 16.30 +/- 2 mm with a range of 13-23 mm. Female patients (73.3%) had an increased cervical spine disorder than males (62.5%). Seropositive rheumatoid arthritis cases (87.5%) were mostly involved in occurrence of disorder than those of seronegative arthritis cases (46%).

Dermatoglyphics in Down's syndrome.

Dermatoglyphic data were obtained from 235 cytogenetically confirmed patients of Down's syndrome. The data were correlated and compared with 230 controls. Printing and transparent adhesive tape photography methods were used to get the dermatoglyphic prints. Patients' total finger ridge counts and 'atd' angles differed significantly from that of the controls. Mostly ulnar loop pattern was observed in the patients. Abnormal dermatoglyphic features such as, simian crease, Sydney line and patterns in the hypothenar and interdigital areas have occurred more frequently in the patients. Dermatoglyphics and the analyses carried out have proved that they are invaluable in their clinical value, in selecting patients of Down's syndrome for cytogenetic analysis.

Trisomy 18 and trisomy 21 mosaicism in a Down's syndrome patient.

A male child with typical features of Down's syndrome and mosaicism of two trisomic cell lines, trisomy 18 (84%) and trisomy 21 (16%), is reported. Non-disjunction or anaphase lag of chromosomes 18 and 21 could be the cause.

Crystal Structure, Bonding, and Phase Transition of the Superconducting Na2CsC60 Fulleride.

The crystal structure of superconducting Na(2)CsC(60) was studied by high-resolution powder neutron diffraction between 1.6 and 425 K. Contrary to the literature, the structure at low temperatures is primitive cubic [See equation in the PDF file], isostructural with pristine C(60). Anticlockwise rotation of the C(60) units by 98 degrees about [111] allows simultaneous optimization of C(60)-C(60) and alkali-fulleride interactions. Optimal Na(+)-C(60)(3-) coordination is achieved with each sodium ion located above one hexagon face and three hexagon-hexagon fusions of neighboring fulleride ions (coordination number 12). Reduction of the C(60) molecule lengthens the hexagon-hexagon fusions and shortens the pentagon-hexagon fusions (to approximately 1.43 angstroms). On heating, Na(2)CsC(60) undergoes a phase transition to a face-centered-cubic [See equation in the PDF file] phase, best modeled as containing quasi-spherical C(60)(3-) ions. The modified structure and intermolecular potential provide an additional dimension to the behavior of superconducting fullerides and should sensitively affect their electronic and conducting properties.