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Ten cases of mongolism are reported in which acute keratoconus developed. The results according to age and sex distribution, onset of the disease, status of the fellow eye, and histology of the cornea are compared with former reports. Our theory of the etiopathogenesis of acute keratoconus in patients with trisomy 21 and other diseases with generalized weakness of the connective tissue is presented and discussed.
Beside the rare cares of translocation mongolism, Down syndrome is caused by meiotic malsegregation of chromosomes, No. 21. The meiotic error can take place in both sexes and was found twice as frequently in the female as in the male. The same 2:1 ratio was found concerning nondisjunction in the first and in the second meiotic division. The rate of meiotic errors, which occur at random, is largely dependent on age; this tendency is more pronounced in oogenesis than in spermatogenesis. The results of prenatal chromosomal diagnosis indicate that the recurrence risk of trisomy 21 is not above the age-dependent average.
Hepatitis B virus (HBV) is spread worldwide. Seven genotypes, A-G, have been described, differing by more than 8% of the genome. In eastern Asia and Oceania genotypes B and C are predominant. However, little is known about genotypes in Mongolia and Australian aborigines. We analysed the preS and S regions of HBV from 9 Mongols and 5 Australian Aborigines. All Mongolian strains were of genotype D and were most similar to Central Asian sequences. All the Australian strains were genetically of serotype ayw3, and could not be reliably classified by the S region analysis, but placed on a separate branch. By preS analysis, they were however clearly of genotype C. The 6-7% nucleotide difference from published Asian genotype C sequences suggests that they diverged from Asian genotype C branch more than 1000 years ago.
Eleven Y-chromosome STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385a,b, DYS438, DYS439) have been co-amplified in 96 healthy unrelated males of Chinese Mongol ethnic group, in order to investigate allele and haplotype frequencies of them, evaluate their usefulness in forensic casework.
A pair of female mongoloid twins was studied when they were ten years old and, again, some thirty years later. A careful comparison was made of the similarities and differences between them in features or traits which have proved to be useful in determining the zygosity of like-sexed twins. Though some of these characters can be, and frequently are, considerably modified in the presence of mongolism and so lose part of their value for that purpose, the differences noted in these twins, both as children and as middle-aged adults, are thought to outweigh their similarities and so warrant the conclusion that they are, indeed, dizygotic.
The central Asian country Mongolia is home to more than 20 tribes and ethnic groups, some of which are related to neighboring Turkic populations. The main Mongolian people, Khalkha, live in central and eastern Mongolia while the Tsaatan minority lives in the north of the country. The Oold minority is from the western Altai mountain region and live in close proximity with Turkic people. We have typed the HLA-A, -B, -Cw, -DRB1 and -DQB1 loci by PCR-SSP in these three Mongolian populations as well as a sample of the German population. To examine their genetic relationships, a sample of the Turkish population already typed at the HLA-A, -B and -DRB1 loci were used. Altogether five populations were analyzed: Khalkha (n = 100), Tsaatan (n = 72), Oold (n = 52), German (n = 260) and (Anatolian) Turkish (n = 498). Nei's unbiased genetic identity (GI) and genetic distance (GD) were estimated from genotypes using PopGene v1.31, and dendrograms were constructed using phylip. The results suggested a close relationship of the Khalkha to the Tsaatan. The Turks and Germans were equally distant to all three Mongolian populations. These results confirmed the lack of strong genetic relationship between the Mongols and the Turks despite the close relationship of their languages (Altaic group) and shared historical neighborhood. This study has provided useful population data for genetic and anthropologic studies bridging eastern and western populations.
A mongol child suffereing from hypothyroidism who presented with precocious puberty is described. A presumptive diagnosis of idiopathic precocious puberty was first made and she was treated initially with medroxyprogesterone acetate, and later, with cyproterone acetate. The diagnosis of primary hypothyroidism was made late because of misleading results of protein bound iodine estimations. Subsequently, thyroid medication resulted in a prompt return to the normal range of the previously elevated levels of plasma gonadotrophins, thyroid stimulating hormone and plasma and urinary oestrogens, but the serum prolactin remained elevated for several months after therapy was begun.
A case of idiopathic Addison's disease and probable autoimmune thyroiditis in a mongol is reported and the clinical features and significance of the changes in autoimmune competence, and their relationship to pathological ageing, are discussed.
Three girls with mosaic mongolism (46, XX/47, XX, +21) were followed cytogenetically and psychologically from the time of diagnosis at 8, 17 and 32 months of age, respectively, to the age of 13--15.5 years. All showed muscular hypotonia and hyperflexible joints at the time of diagnosis, but otherwise the physical characteristics of Down's syndrome were weakly expressed. The percentage of trisomic cells in the peripheral blood decresed with time, but were still higher in lymphocytes than in skin fibroblasts at the last investigation. Developmental milestones were delayed in all cases, and the developmental and intelligence quotients were decreased. Mental retardation was only slight in one of the cases (I.G. = 65 at the age of 14 years 8 months). The intelligence quotients showed declining trends with time. Social ability and school results tended to be better than could be expected from the test results.
Examinations of a series of 1241 subjects showed episcleral pigment spots bearing relation to scleral canal emissaries to be most frequent among Eskimos (prevalence 85%), somewhat less frequent among Mongols (68%), and the rarest among white Northern Europeans (16%). The prevalence is the highest among women and rises very little with increasing age. The pigmentation is most often bilateral in Eskimos (66%), more rarely so in Caucasians (18%). It is most often localized superiorly (54%). Then follows in decreasing order to frequency:inferiorly (26%), nasally (13%), and - significantly more rarely - temporally (7%). The pigmentation is most often related to an artery (90%), most often one running a radial course (39%) or in the incyclo-direction (32%). Its average length in caucasians is 1.1 mm. Pigmentations are significantly related to the colour of the iris (visible in 8% of blue irides, against in 40% of brown).
Children with phenylketonuria excrete considerably less serotonin and tryptamine and somewhat less normetanephrine and p-tyramine than normal children. The excretion of these amines was not decreased in mongolism. Even during monoamine oxidase blockade, o-tyramine could not be detected in the urine of phenylketonurics. These findings are discussed in relation to the mental defect of phenylketonuria.
A highly significant increase (P < .01) in average uric acid level was found in the blood serum of mongoloids when levels were compared with those in normal control subjects or nonmongoloid, mentally retarded subjects. The possible relationship of these findings to other abnormalities known to exist in mongolism is discussed.
Genetic polymorphisms of blood groups ABO and RH D, serum proteins HP, TF, and GC, and red cell enzymes ACP1, PGM1, ESD, GLO1, and SOD-A have been reported for three tribes (Torguts, Derbets, and Buzavs) of the Volga's Kalmyk-Oyrats. The Kalmyks exhibit genetic markers that are characteristic of Central Asian populations, namely, high allelic frequencies for ABO*B, TF*C2, GC*IF, ESD*2, and GLO1*2, and the rare incidence of individuals with the RH-negative phenotype. Genetic distance measures reveal that close genetic affinities exist between the Derbets and Buzavs, but both populations differ significantly from the Torguts. Collectively as an ethnic group, the Kalmyks genetically resemble the contemporary Buryats of the Baikal region of southeastern Siberia and the Mongols of Mongolia. The transplantation of the Kalmyk-Oyrats from their homeland near Lake Baikal to their current residence (4500 km) near the Caspian Sea and their subsequent isolation for more than 300 years have not appreciably altered the gene frequencies from the parental populations for frequencies of standard genetic markers.
In treating children with mongolism (Down's syndrome) with electroacupuncture, the latent period of P3 is shortened, which shows that the cerebral reaction to external stimulus in classification, encoding and recognition is accelerated. Along with the elevated P3 amplitude, the cerebrum is more capable of processing the external information, showing improvement of the mental state.
Morphology of Anopheles (Anopheles) hailarensis, a new species belonging to the Anopheles hyrcanus group, collected from Hailaer, Nei Mongol Autonomous Region, P. R. of China, is described in adult, pupal, larval and egg stages. It is closely related to Anopheles sinensis Wiedemann, 1828 and Anopheles heiheensis Ma, 1981. Comparisons on adult morphology among above three species and egg morphology between the new species and Anopheles sinensis are made.
The age of menarche in various groups of females was studied. In healthy girls, the average age of menarche was 12 years 2 months regardless of their birthweights. Twin girls had a significantly retarded menarche (approx. 12 years 8 months). In a group of 102 blind patients, it was not significantly different from healthy controls. In a series of 42 girls with mongolism, the mean age of menarche was significantly retarded (13 years 3 months).
From 1998 to 2001, a sample of 2760 Mongol and Han individuals was investigated in 3 areas (Eerduosi city, Xilinguole and Bayannaoer leagues) from Inner Mongolia. Each individual was studied on 4 genetic characters (thumb type, palmar digital formular, fingernail type and plantar digital formular). The result is as follows: (1) The frequencies of the straight thumb were over 60%, and there were no significant sexual differences in all of 6 groups. (2) The frequencies of the ring-finger-longer were much higher in 6 groups, and there were significant sexual differences in 4 groups. (3) The frequencies of the long-shaped fingernail were the highest in all groups, the squat-shaped were the lowest. (4) The big toes were longer than the second toes in most people of 6 groups,but without significant sexual differences in each groups. (5) There were no significant correlations between 4 characters.
The origin and migratory ways of Mongols during the neolithic period are hitherto unsettled. This paper remembers any facts of comparative linguistics which demonstrate remnants of a Protomongolian substratum in olden and living languages of Central Asia, the Near Orient, Europe, and the Canary Islands.