Notches in the non-epiphyseal ends of the metacarpals and phalanges in children of four South African populations

The incidence of notches in the non-epiphyseal ends of the shafts of the metacarpals and phalanges was determined from radiographs of the left hand of 1,303 Pretoria school-children aged 6 to 11 years. The group included White, Negro, Coloured and Indian children. The notches represent vestiges of supernumerary epiphyses or pseudo-epiphyses. Notching of one or more of the metacarpals or phalanges was found in 88.9% of White children, 77.1% of Negro children, 84.3% of Coloured children and 78.8% of Indian children. Notches were most common in metacarpal I followed in declining order of frequency by metacarpal II, metacarpal V, middle phalanx V and proximal phalanx I. Notches were rare in other sites. The mean number of notches per subject was significantly higher in males than in females in all four population groups. However, the sex differences appear to be due mainly to earlier obliteration of notches in females. The findings in White children suggest that there is no significant relationship between metacarpal and phalangeal notching and skeletal maturation rate. Notches are significantly more common in Pretoria Whites than in relatively poorly nourished Pretoria Negro children. It is concluded that the occurrence of notches is a normal phenomenon accompanying the ossification of the hand skeleton and that notching is related neither to retardation in skeletal development nor to undernutrition.     

Polydactyly in the American Indian.

Polydactyly has an incidence in the American Indian twice that of Caucasians. A minimum estimate of this incidence is 2.40 per 1,000 live births. Preaxial type 1 has an incidence three to four times that reported for Caucasians or Negroes. The overall sex ratio in Indians is distorted with more males affected than females. The preaxial type 1 anomaly has a strong predilection for the hands and always is unilateral in contrast to postaxial type B where more than one-half are bilateral. The evidence to date, consisting of varying incidences of specific types of polydactyly among American whites, Negroes, and Indians in varying enviroments, suggests different gene-frequencies for polydactyly in each population. The incidence in Indians with 50% Caucasian admixture suggests that the factors controlling polydactyly are in large part genetically determined. Family studies and twin studies reported elsewhere offer no clear-cut genetic model which explains the highly variable gene frequencies.     

Anterior femoral curvature: Its probable basis and utility as a criterion of racial assessment

Stewart ('62) and Walensky ('65) indicated that while the metrical expression of anterior femoral curvature alone will not always differentiate between Whites, American Negroes, and North American Indians, it was very useful as a racial criterion in combination with observed traits such as torsion, pilastry, and cross-sectional shape. Seven additional North American Indian groups reported here, representing both pre-Columbian and post-contact times, upheld the observation that anterior femoral curvature is a useful feature of racial assessment for Negroes, Whites and North American Indians. However, two South American groups studied (Ecuador and Peru) were only slightly more curved than American Negroes, and were less curved than Whites and North American Indians. The metrical expression of anterior femoral curvature therefore is not a useful feature of racial assessment for separating these two South American Indian groups from Whites and American Negroes. Femora of American Negro and White individuals with low ponderal indices were found to be less bowed than the norms for their race; individuals with high ponderal indices were more bowed than the norm for their race. The assumed genetic basis for expression of anterior femoral curvature suggested by Stewart ('62) and Walensky ('65) seems to be a feature of human plastic response to body weight rather than to temporal, clinal, postural or equestrian influences.     

The mylohyoid bridge of pre-Columbian Peruvians

The frequency of expression of the mylohyoid bridge was studied in the skeletal remains of 122 Pre-Columbian Peruvians. The incidence in this population was found to be 17.6% as compared to an incidence of 15.4% found in a similar size sample population of American Negroes and a 16.1% incidence in a population of American Whites from the Terry Collection. No significant differences as to the incidence of the mylohyoid bridge were found as to the side of occurrence or between deformed and undeformed crania. A mylohyoid bridge was found in a younger individual (6 years) than had previously been reported. Females showed a significantly higher incidence of this trait in all three populations studied. A similar incidence of the mylohyoid bridge in Pre-Columbian and Mongoloid peoples adds support to the theory of a Mongoloid origin of these people. The mylohyoid bridge is considered to be a significant genetic marker which along with other such markers could be of value in population studies.     

Positional changes of the frontoparietal ossification centers in perinatal craniosynostotic rabbits.

It has been suggested that craniosynostosis is caused by abnormally located ossification centers (i.e., bony tubers) in the developing skull prior to suture formation [Mathijssen et al., 1996, 1997]. The present study was designed to test this hypothesis in a rabbit model of human familial, nonsyndromic coronal suture (CS) synostosis. Calvariae were taken from 99 New Zealand White rabbit perinates (55 normal controls, 15 with delayed-onset CS synostosis, and 29 with bilateral or unilateral CS synostosis), ranging in age from 23 to 34 days postconception (synostosis occurs at approximately 23 days in this model). Frontoparietal, interfrontal, and interparietal ossification center distances were obtained using a Wild microscope with camera lucida attachment and a 2-D computer digitization technique. Linear regression analysis was used to compare age-related changes in the perinatal ossification centers among groups. Results revealed that frontoparietal ossification center regression line slopes had similar start points (24-day intercepts) with significantly (P < 0.05) diverging slopes over time. Normal and delayed-onset ossification center distance increased more rapidly than in synostosed perinates. No significant (P > 0.05) differences were noted in regression line slopes among groups for interparietal or interfrontal ossification center distances. Results demonstrated that, in synostosed perinates, frontoparietal ossification center location was similar to normals around the time of synostosis and became displaced later. These findings suggest that ossification center (i.e., bony tuber) displacement seen in infants with craniosynostosis is probably a secondary and compensatory, postsynostotic change and not a primary causal factor of synostosis in this rabbit model.     

Bilateral aplasia of the thumb, proximal radioulnar synostosis and unilateral synostosis of metacarpals 4 and 5

We present a boy with bilateral aplasia of the thumb, bilateral proximal radioulnar synostosis and unilateral fusion of metacarpals 4 and 5. Apart from a small, asymptomatic ASD, no other abnormalities were noted.     

广西侗族手指指毛的分布

本文调查了广西三江侗族18至50岁农民和学生279人(男153、女126)的手指指毛分布。结果说明,近侧和中间指节除发现一例女性没有指毛以外,其余均有指毛,远侧指节无指毛。男女两性间指毛的出现率无明显差异,左右手指指毛分布基本上对称。     

Clinical experience with the CO2 laser during carpal tunnel decompression

Scar tissue formation along the cut edges of the transverse carpal ligament has been found to be among the primary causes for persistent median nerve compression following carpal tunnel release with the steel scalpel. Since laser surgery has been shown to be effective in reducing incisional inflammatory reactions, hypertrophic scarring, and postoperative pain and edema, in achieving better hemostasis, the application of the carbon dioxide laser may be a more efficient surgical tool than the steel scalpel for carpal tunnel release. In 46 cases of carpal tunnel syndrome, the carbon dioxide laser was utilized to vaporize the transverse carpal ligament and seal its edges. The patients were then reevaluated at 1 week, 2 weeks, 6 months, 1 year, and 2 years. No intraoperative complications were encountered. Patients reported minimal postoperative pain, rapid return of sensibility, decreased paresthesia, and increased motor function. After 2 years, there have been no recurrent symptoms of median nerve compression in these patients.     

Acrodysplasia (hands and feet) with scoliosis, by autosomal recessive transmission

Brachydactyly is reported in two brothers born to consanguineous parents (1/8). Additional abnormal features were scoliosis, spina bifida occulta, and carpal synostosis.     

Problems Associated with the Production of Stable Protoplasts of Cells of Tobacco Mesophyll

Problems encountered in the preparation and culture of tobaccoleaf protoplasts are discussed. The conditions under which theplants were cultivated was important; only well-grown plantswere a reliable source of protoplasts. The age of the plantswas also critical; in the present work leaves from White Burleyplants aged 40–60 days were found to give very reproducibleresults. Plants older or younger than this were unsatisfactory.Protoplasts of White Burley required higher levels of auxinduring culture than did those of the other varieties examined{Xanthi and Xanthi NC) and the level initially required to inducedivision depended on the condition of the leaf from which theprotoplasts had been prepared.     

Morphology of Liberian Negro deciduous teeth. II. Arch dimensions and occlusion

Liberian Negro deciduous dentitions have arch dimensions which significantly exceed those of a variety of White populations. Winged incisors were present in 14.3% of the Negro population, again exceeding White values. No differences were noted in incisal overbite or overjet. Diastemal spaces were greater in the Negro dentitions than in the White, but the significance of this is as yet unknown. An exceptional finding was the absolute lack of Class II (distocclusion) in the Negro series. A discussion of functional occlusion stressed the necessity for the inclusion of such dynamic factors as dental abrasion, mesial migration and physiological rest position in future studies of comparative dental anthropology.     

Three examples of anti-Fy3 produced in Negroes

We present three examples of anti-Fy3 produced by Negroes. Results of serologic studies were similar to those of previously reported examples of Negro produced anti-Fy3, including negative to weak reactivity with cord red blood cells, separable anti-Fya, and the presence of multiple unexpected alloantibodies. These findings reinforce the difference between anti-Fy3 produced by Negroes and that produced by non-Negroes. The rare formation of Duffy antibodies by Negroes may signify the presence of an amorphic gene at the Duffy locus.     

Sickness Absence from Work among Persons with New Physician-Diagnosed Carpal Tunnel Syndrome: A Population-Based Matched-Cohort Study

Background

Carpal tunnel syndrome is common among employed persons. Data on sickness absence from work in relation to carpal tunnel syndrome have been usually based on self-report and derived from clinical or occupational populations. We aimed to determine sickness absence among persons with physician-diagnosed carpal tunnel syndrome as compared to the general population.

Methods

In Skåne region in Sweden we identified all subjects, aged 17–57 years, with new physician-made diagnosis of carpal tunnel syndrome during 5 years (2004–2008). For each subject we randomly sampled, from the general population, 4 matched reference subjects without carpal tunnel syndrome; the two cohorts comprised 5456 and 21,667 subjects, respectively (73% women; mean age 43 years). We retrieved social insurance register data on all sickness absence periods longer than 2 weeks from 12 months before to 24 months after diagnosis. Of those with carpal tunnel syndrome 2111 women (53%) and 710 men (48%) underwent surgery within 24 months of diagnosis. We compared all-cause sickness absence and analyzed sickness absence in conjunction with diagnosis and surgery.

Results

Mean number of all-cause sickness absence days per each 30-day period from 12 months before to 24 months after diagnosis was significantly higher in the carpal tunnel syndrome than in the reference cohort. A new sickness absence period longer than 2 weeks in conjunction with diagnosis was recorded in 12% of the women (n = 492) and 11% of the men (n = 170) and with surgery in 53% (n = 1121) and 58% (n = 408) of the surgically treated, respectively; median duration in conjunction with surgery was 35 days (IQR 27–45) for women and 41 days (IQR 28–50) for men.

Conclusions

Persons with physician-diagnosed carpal tunnel syndrome have substantially more sickness absence from work than age and sex-matched persons from the general population from1 year before to 2 years after diagnosis. Gender differences were small.     

Variation in the number of presacral vertebrae in bantu-speaking South African Negroes

Variation in number of presacral vertebrae (PSV) was examined in 462 vertebral columns in four populations drawn from tribal groups of Southern African Negroes. The total incidence of numerical variants (23 PSV and 25 PSV) was 19% in males and 12.1% in females. Males have a higher frequency of 25 PSV and females a higher frequency of 23 PSV, a sex difference reported by previous workers. Significant differences in the incidence of 25 PSV in males were present between S.A. Negroes, American Negroes and other racial groups. The total number of variants (23 PSV and 25 PSV) is significantly higher in S.A. Negro males (and higher but not significantly in females) than in the other groups; owing mainly to the findings in the Nguni-speaking sub-samples of the S.A. Negro. These findings support a previous suggestion based on combined-sex data that the frequency of numerical variations of PSV are characteristic of a population. It is suggested here that such frequencies are even more characteristic when males and females are considered separately.     

Genetic variability among peoples of Aruba and Curaçao

Data were obtained from 252 elementary school pupils in four regions of Aruba and in the suburbs of Willemstad, Curaçao. Data included ABO and MN blood groups, ratings of skin color and hand prints. Pupils in the Noord region of Aruba differ significantly from those at other schools in both islands with respect to frequencies of MN blood group genes; mean ridge counts on fingers; and pattern frequencies in hypothenar and thenar/first interdigital palmar areas. Noord pupils have significantly darker skin color than those in other Aruban areas. No significant differences were encountered in ABO frequencies, which are more similar to those of Negroes than to American Indians and Caucasians. MN blood group frequencies and finger prints of pupils in the Noord region are similar to those of American Indians, whereas those in other regions are similar to those of Negroes and western Europeans.     

G6PD deficiency with Gd(-)A like variant in a Chinese family from Cambodia

Summary A low rate value of G6PD was found in red blood cells from a Cambodian boy. Enzyme mapping was performed according to the WHO standard methods. G6PD presented all the characteristics of the A(-) variant encountered in the Negroes and behaved distinct from fast migrating enzymes described in China. No negro was in the ancestry of the mother.     

Coronal ring involvement in patients treated for unilateral coronal craniosynostosis

The etiopathology of the clinical entity normally referred to as unilateral coronal synostosis is commonly used to connote unilateral fusion of the frontoparietal suture. However, other sutures in the coronal ring may exhibit synostosis concomitant with or independent from frontoparietal synostosis and give rise to similar clinical phenotypes. This study retrospectively analyzes high-resolution computed tomographic data sets to determine patency of sutures within the coronal ring. Computed tomographic scan digital data from 33 infants who subsequently underwent surgical correction of unilateral coronal synostosis were assessed for sutural patency using Analyze imaging software. The frontosphenoidal suture was subdivided into intraorbital frontosphenoidal and extraorbital frontosphenoidal portions, and the patency of the frontoethmoidal suture was also assessed. Patients were sorted into two groups on the basis of the status of their frontosphenoidal sutures: group 1 had patent frontosphenoidal but synostotic frontoparietal sutures (n = 21) and group 2 had both frontosphenoidal and frontoparietal synostoses. Observer reproducibility was tested. The vertical and horizontal dimensions of the bony orbit and the endocranial base deflection angle were measured with the observer blinded with regard to sutural status group. Frontoethmoidal synostosis was not noted in any patients in either group. Two patients had no frontoparietal suture synostosis with isolated intraorbital frontosphenoidal and extraorbital frontosphenoidal suture closures. Suture diagnosis reproducibility was 99 percent. In group 1, the ipsilateral-to-contralateral vertical orbit dimension ratio averaged 1.11, whereas in group 2 it averaged 1.04 (p < 0.05). The ratio of horizontal orbit measurements was not significantly different between groups. In both groups, the endocranial base was deflected ipsilateral to the synostotic frontoparietal suture, with an average angle of 12 degrees in group 1 and 17 degrees in group 2 (p < 0.005). The extent of synostosis along the coronal sutural ring contributes to the dysmorphology of the orbit and the endocranial base deflection in patients whose clinical phenotypic diagnosis is unilateral coronal synostosis.     

HFE C282Y homozygotes aged 25-29 years at HEIRS Study initial screening

We characterized HFE C282Y homozygotes aged 25-29 years in the HEmochromatosis and IRon Overload Screening (HEIRS) Study using health questionnaire responses, transferrin saturation (TfSat), serum ferritin (SF), and HFE genotyping. In eight homozygotes, we used denaturing high-performance liquid chromatography and sequencing to search for HFE2 (= HJV), TFR2, HAMP, SLC40A1 (= FPN1), and FTL mutations. Sixteen of 4,008 White or Hispanic participants aged 25-29 years had C282Y homozygosity (15 White, 1 Hispanic); 15 were previously undiagnosed. Eleven had elevated TfSat; nine had elevated SF. None reported iron overload-associated abnormalities. No deleterious non-HFE mutations were detected. The prevalence of C282Y homozygosity in White or Hispanic HEIRS Study participants aged 25-29 years did not differ significantly from the prevalence of C282Y homozygosity in older White or Hispanic HEIRS Study participants. The prevalences of reports of iron overload-associated abnormalities were not significantly different in these 16 C282Y homozygotes and in HFE wt/wt control participants aged 25-29 years who did not report having hemochromatosis or iron overload. We conclude that C282Y homozygotes aged 25-29 years diagnosed by screening infrequently report having iron overload-associated abnormalities, although some have elevated SF. Screening using an elevated TfSat criterion would fail to detect some C282Y homozygotes aged 25-29 years.     

Third molar agenesis in a trihybrid Brazilian population

The frequency of missing third molars is about eight per cent per quadrant in a sample of 490 males of the mixed White/Negro/Indian population of Natal, Brazil. Absence of the four third molars appears in two per cent of the individuals of the sample. The degree of asymmetry for the trait was not marked. No differences were observed when the persons were separated on morphological grounds as Whites or Negroids suggesting that these segregants may be genetically homogeneous in relation to this and other characteristics.     

Cervical intraepithelial neoplasia grade III (CIN III) and invasive cervical carcinoma: the yawning gap revisited and the treatment of risk

In a 3-year study of the population of Southampton and south-west Hampshire there were 10 times as many cases of CIN III compared with invasive squamous carcinoma (700 compared with 70). The peak incidence of CIN III per 1000 screened women years was in those aged 25-29 years, which was 20 years earlier than the peak incidence of invasive cervical cancer per 1000 women years at risk. Ninety percent of CIN III was diagnosed in women under 50 years. There were 14 cases of cervical glandular intraepithelial neoplasia grade III (CGIN III), three coexisting with CIN III, all in women aged under 50 years: the gap between intraepithelial and invasive lesions was not seen for glandular neoplasia. Although referral was for at least moderate dyskaryosis in 86.8% of women with CIN III or CGIN III, most had been screened previously, either having had mild abnormalities requiring repeat cytology (39.8%) or negative cytology (34.5%). Only 12 women aged > or = 50 years had previous negative cytology: 21.4% compared with 35.6% of women aged < 50 years (P = 0.034). The results of this study suggest that the best opportunity for preventing invasive squamous cell carcinoma lies in screening women aged 20-39 years when the incidence of CIN III in the screened population is highest and before the peak incidence of invasive disease. The results also indicate the importance of repeated screening and follow up of minor cytological abnormalities in the detection of CIN III. The benefit of screening must be regarded as a treatment of risk, since it is almost certain that a high proportion of CIN III regresses or persists unchanged.