bluuebunny/crossref_metadata_2025 huggingface dataset:
Dental fear and anxiety and oral health behaviour in 12‐ to 14‐year‐olds born preterm
Authors: BROGÅRDH‐ROTH SUSANNE , STJERNQVIST KARIN , MATSSON LARS , KLINGBERG GUNILLA
Published: July 2010

International Journal of Paediatric Dentistry 2010; 20: 391–399

Background.  An enhanced frequency of cognitive and behavioural disturbances has been reported in preterm children. It is not known if this affects their perceptions of or behaviour in the dental care situation.

Hypothesis.  The hypotheses were that preterm (PT) children aged 12–14 years more often exhibit dental fear and anxiety (DFA) than full‐term controls (C), while no differences were expected regarding oral health behaviour.

Methods.  One hundred and nine PT and 108 C children took part in the present questionnaire study. DFA was assessed using the Children’s Fear Survey Schedule – Dental Subscale (CFSS‐DS). In addition the questionnaire covered items including satisfaction with received dental care, oral health behaviour and medical health.

Results.  The children’s CFSS‐DS scores revealed no differences between the PT and C groups. Regarding oral health behaviour there were no differences, except that PT children more often used dental floss and extra fluoride supplements. PT children reported more medical health problems than C children.

Conclusions.  Preterm (PT) children 12‐ to 14‐years‐old, as well as C of same age group, seem to be satisfied with their dental care and display low prevalence of DFA. Still, a higher frequency of medical health problems in the PT children suggests that these children should be regarded as potential risk patients for oral health problems.
Barriers to forest regeneration of deforested and abandoned land in Panama
Authors: HOOPER ELAINE , LEGENDRE PIERRE , CONDIT RICHARD
Published: July 2010

In Panama, abandoned agricultural lands that supported tropical rain forest are invaded by the exotic invasive grass Saccharum spontaneum, which precludes native forest regeneration. This study aimed to evaluate the importance of several barriers to forest regeneration and highlight mitigation opportunities.

We examined four barriers to natural regeneration: Saccharum competition, seed dispersal limitation, fire and soil nutrient deficiency. Tree and shrub regeneration was measured in a factorial experiment combining Saccharum cutting treatments, distances from adjacent forest and a prescribed burn to assess the first three barriers, respectively. We compared soil nutrients in Saccharum plots with those from adjacent forest. Additionally, we determined the importance of distance to remnant vegetation (large‐leaved monocots, shrubs and isolated trees) on forest regeneration.

Fire significantly decreased plant species richness of forest regeneration. Fire inhibited the germination of most species; the effect was exacerbated by cutting the Saccharum.

Grass competition significantly decreased seedling growth, while soil nutrient deficiency did not affect forest regeneration.

Seed dispersal limitation affected density and species richness. Significantly more species (3×) regenerated at 10 m compared with 35 m from the forest. Mean seedling densities were, respectively, four, three and two times higher under large‐leaved monocots, isolated trees and shrubs than in open Saccharum. When seed input was experimentally equalized, large‐seeded species had the highest establishment rate, suggesting that if their propagules were dispersed to the site they would regenerate in high proportions. However, under natural conditions they regenerated poorly and represented the most dispersal‐limited species group.

Synthesis and applications. Our results suggest that facilitation of natural regeneration may be a feasible, low‐cost management option for restoring native forest cover to large areas. Firebreaks must be established to promote biodiversity of forest regeneration. We do not recommend Saccharum cutting or fertilization as site treatments. Shading effectively eliminates Saccharum. Planting a variety of tree species in clumps throughout the Saccharum may overcome dispersal limitations and catalyse natural regeneration. Trees that attract different frugivores are recommended, especially large‐seeded forest species.
Disequilibrial island turnover dynamics: a 17‐year record of Bahamian ants
Authors: Morrison Lloyd W.
Published: July 2010

Aim  To document long‐term rates of immigration, extinction and turnover in insular ant faunas and evaluate the relative impacts of recent hurricane activity and climate change.

Location  Small islands in the Exuma Cays, Andros and Abaco archipelagos of the Bahamas.

Methods  I surveyed the ant faunas of > 140 small islands in three archipelagos of the Bahamas over several multi‐year periods, spanning up to 17 years, by recording species attracted to baits. Immigrations, extinctions and species turnover were documented, as were the relative abundances of species. Four major hurricanes affected the study archipelagos in the second decade of this study.

Results  Rates of ant turnover were generally low among archipelagos and time periods. Immigrations outnumbered extinctions in the first decade of this study, although this pattern was reversed in the second decade. General physical characteristics of the islands were not significant predictors of the occurrence of extinctions. The relative abundance (based on proportion of baits occupied) of persistent populations of the two most common species both declined in the second decade, indicating, along with higher extinction rates, a generalized decline in these insular ant faunas.

Main conclusions  The available evidence suggests that hurricanes were not directly responsible for the observed declines in the ant faunas. Regional changes in insular ant species richness, however, are correlated with generalized North Atlantic hurricane activity over the last half century. Indirect effects of hurricanes on the vegetation of these islands, such as increased herbivory and possible decreased nutrient availability, along with a long‐term (quarter century) increase in temperature and decline in rainfall, are possible contributing factors to the changing ant turnover dynamics.
Genetic population structure of Natterer's bats explained by mating at swarming sites and philopatry
Authors: RIVERS NICOLA M. , BUTLIN ROGER K. , ALTRINGHAM JOHN D.
Published: July 2010

During autumn ‘swarming’, large numbers of temperate bats chase each other in and around underground sites. Swarming has been proposed to be a mating event, allowing interbreeding between bats from otherwise isolated summer colonies. We studied the population structure of the Natterer's bat (Myotis nattereri), a swarming species in northern England, by sampling bats at seven sites in two swarming areas and at 11 summer colonies. Analysis of molecular variance (amova) and genetic assignment analyses showed that the swarming areas (60 km apart) support significantly different populations. A negative correlation was found between the distance of a summer colony from a swarming area and the assignment of bats to that area. High gene diversity was found at all sites (HE = 0.79) suggesting high gene flow. This was supported by a low FST (0.017) among summer colonies and the absence of isolation by distance or substructure among colonies which visit one swarming area. The FST, although low, was significantly different from zero, which could be explained by a combination of female philopatry and male‐mediated gene flow through mating at swarming sites with bats from other colonies. Modelling suggested that if effective size of the summer colonies (Ne) was low to moderate (10–30), all mating must occur at the swarming sites to account for the observed FST. If the Ne was higher (50), in addition to random mating during swarming, there may be nonrandom mating at swarming sites or some within‐colony mating. Conservation of swarming sites that support potentially large populations is discussed.
Study of telomerase reverse transcriptase (hTERT) expression in normal, aged, and photo‐aged skin
Authors: Attia Enas A. S. , Seada Laila S. , El‐Sayed Mahira H. , El‐Shiemy Saleh M.
Published: July 2010

Background  Telomerase is a ribonucleoprotein enzyme capable of extending chromosome ends with telomeric DNA sequences. It protects the germline and stem cells from senescence by preventing telomere attrition. Cutaneous aging includes intrinsic aging, and photo‐aging. Telomere‐associated cellular senescence contributes to certain age‐related cutaneous disorders, including increased cancer incidence. Premature skin aging in xeroderma pigmentosa (XP) is expected to show increased telomere attrition. We aimed to study human telomerase reverse transcriptase (hTERT) expression in normal, aged and photo‐aged skin and to investigate its possible role in the pathogenesis of aging and photo‐aging.

Methods  hTERT expression using immunohistochemistry was studied in 75 subjects comprising four groups: group I, 10 subjects with aged skin; group II, 20 subjects with photo‐aging; group III, Five patients with XP; and group IV, 40 subjects comprising the control groups.

Results  We found positive hTERT in normal skin and in the basal and sometimes in supra‐basal layers. We reported positive hTERT expression in dermal fibroblasts, histiocytes, and skin appendages (other than hair follicles) in some cases from all the studied groups. Photo‐aged and prematurely photo‐aged skin showed greater hTERT expression than young and aged skin.

Conclusion  Telomeres rather than telomerase are involved in cellular senescence. Yet, telomerase is intimately related to photo‐aging in which lifetime cumulative sun exposure is an important factor. However, genetic damage in XP is the decisive factor and not merely ultraviolet exposure.
Diphoterine for alkali chemical splashes to the skin at alumina refineries
Authors: Donoghue A. Michael
Published: July 2010

Background  Diphoterine is a commercially available amphoteric, hypertonic, chelating solution used to decontaminate and irrigate chemical splashes. The aim of this study was to evaluate the implementation of Diphoterine at three alumina refineries. This is the largest case series reported to date.

Methods  One hundred eighty cases of alkali splashes to the skin were evaluated clinically. Two groups were compared; those who had applied Diphoterine first and those who had applied water first.

Results  There were no signs of chemical burn in 52.9% of the group who applied Diphoterine first compared with 21.4% of the group who applied water first. Only 7.9% of the group who applied Diphoterine first had blisters or more severe signs compared with 23.8% of the group who applied water first. The differences were statistically significant (P < 0.001). After implementation of Diphoterine the “first aid” injury rate for chemical burns fell 24.7% (95% CI 0.5–43.0%).

Conclusions  Applying Diphoterine first was associated with significantly better outcomes following alkali skin splashes than applying water first.
Evaluation of nail disease in psoriatic arthritis by using a modified nail psoriasis severity score index
Authors: Maejima Hideki , Taniguchi Tomonori , Watarai Akira , Katsuoka Kensei
Published: July 2010

Background  The Classification of Psoriatic Arthritis Study Group published new criteria for classifying psoriatic arthritis (PsA) which included nail psoriasis. Our aim was to clarify the clinical importance of nail disease in PsA patients.

Methods  We investigated the types and severity of nail disease by using the modified nail psoriasis severity score index (mNAPSI) in 23 PsA patients and 23 patients with uncomplicated psoriasis. We analyzed the relationships of mNAPSI with nail fold psoriasis, psoriasis area and severity index score, swollen and/or tender joint counts, distal interphalangeal (DIP) joint disease, acute phase reactants and the score on the Japanese version of the standard health assessment questionnaire.

Results  The mNAPSI in 23 PsA patients was higher than that of controls (4.8 ± 5.3 vs. 2.3 ± 3.7, P < 0.05). The severity of fingernail disease in PsA patients was significantly associated with DIP joint disease (8.6 ± 5.9 vs. 3.1 ± 3.3, P < 0.05) and nail fold psoriasis (6.7 ± 5.2 vs. 3.5 ± 5.2, P < 0.05). There were no correlations between the mNAPSI and other systemic involvements.

Conclusions  The nail involvement and prolonged nail bed psoriasis were common in PsA patients. Nail fold psoriasis and DIP joint arthritis were associated with nail involvement in PsA patients. Nail psoriasis would be related to the Koebner phenomenon and local inflammatory DIP joint arthritis in PsA patients, and we suggested that nail involvement in PsA was among the disorders indicative of distal phalanx enthesitis.
Two cases of dermatomyofibroma (plaque‐like dermal fibromatosis)
Authors: Gomez‐Moyano Elisabeth , Vera‐Casaño Angel , Martinez‐Garcia Silvestre , Sanz‐Trelles Andrés , Crespo‐Erchiga Vicente
Published: July 2010

Background  Dermatomyofibroma is a rare but distinct benign cutaneous mesenchymal neoplasm of fibroblastic/myofibroblastic differentiation. It is more common in adolescents and young adults, with a female preponderance. In most cases, the lesions are asymptomatic and small, measuring from 10 to 20 mm. Early and active lesions tend to be actin positive.

Case report  We present a) a new case of dermatomyofibroma in an 11‐month‐old male infant, the youngest case reported to date, and b) the second reported case of a giant annular dermatomyofibroma, measuring 10 cm × 6 cm, in a 52‐year‐old woman. In both cases, histological examination showed a spindle‐cell proliferation embedded among the collagen fibers of the dermis, arranged predominantly parallel to the skin surface. In both cases the spindle cells stained positive for smooth muscle actin and the elastic fibers were increased and fragmented.

Conclusion  Dermatologists and pediatricians should be aware of this benign entity in order to avoid unnecessary treatment.
Systematic review of topical capsaicin in the treatment of pruritus
Authors: Gooding Sylvia M. D. , Canter Peter H. , Coelho Helen F. , Boddy Kate , Ernst Edzard
Published: July 2010

Objective  To determine the efficacy of topical capsaicin in treating pruritus in any medical condition.

Data sources  Cochrane library, Medline, Embase, Cinahl and Amed, up to April 2008. No language restrictions.

Study selection  Randomized, controlled trials comparing topically applied capsaicin with placebo or other standard treatment in patients with pruritus, independently selected by two reviewers.

Data extraction  Independently extracted by two reviewers. Quality assessed using the Jadad scale.

Data synthesis  Six randomized controlled trials were identified for inclusion. Three were for hemodialysis‐related pruritus and provided insufficient data for the efficacy of topical capsaicin to be evaluated. A crossover study of capsaicin for treating idiopathic intractable pruritus ani reported a statistically significant difference in responder rates favoring capsaicin over placebo for itching scores but included insufficient data for the validity of this result to be assessed. A study on notalgia paresthetica reported a statistically significant difference in the first phase of a crossover study favoring capsaicin over placebo in a visual analogue scale for itch intensity but failed to report data for a second outcome measure. The final study on brachioradial pruritus used an inappropriate design and reported no significant reduction in itch between capsaicin and placebo.

Conclusion  At present, there is no convincing evidence for the use of capsaicin to treat pruritus in any medical condition. Further research is needed, and should attempt to address methodological issues identified through this review including unblinding and the suitability of crossover designs.
A prospective open‐label clinical trial of adalimumab for the treatment of hidradenitis suppurativa
Authors: Amano Masahiro , Grant Annika , Kerdel Francisco A.
Published: July 2010

Objective  To evaluate the safety and efficacy of adalimumab for the management of hidradenitis suppurativa (HS).

Methods  In a prospective open‐label phase II study, adalimumab was administered subcutaneously in a dose of 160 mg induction regimen at week 0, followed by 80 mg at week 1, and 40 mg at alternate weeks for 12 weeks in 10 patients. The patients were followed up to 13 weeks and their disease activity was assessed using the HS Severity Index (HSSI) as well as with the numbers of daily dressing changes, the Visual Analogue Scale (VAS), Dermatologic Life Quality Index (DLQI), and Physician’s Global Assessment of disease severity (PGA).

Results  Ten patients were enrolled in this study. Of these, six patients completed the 12‐week treatment period. A ≥ 50% decrease of HSSI score was not found in any of the patients at week 2, 4, 8, and 12. None of the 10 patients was classified as a responder at week 12 compared with baseline. Statistically significant difference in HSSI score was found between baseline and week 8 (P < 0.05) only but no significant differences were found between baseline and week 2, 4, and 12. Comparison of baseline with week 12 VAS and DLQI scores failed to show statistically significant improvement. Adalimumab was well tolerated and there were no serious adverse events reported.

Conclusions  Our study demonstrated statistically clinical improvement is not observed in the treatment of HS with adalimumab. Future studies using higher doses of adalimumab are warranted.
Post‐kala‐azar dermal leishmaniasis – an overview
Authors: Ganguly Sudipto , Das Nilay Kanti , Barbhuiya Joyashree Nath , Chatterjee Mitali
Published: July 2010

Post‐kala‐azar dermal leishmaniasis (PKDL) is a dermal sequela of visceral leishmaniasis (VL), reported mainly from two regions – Sudan in eastern Africa and the Indian subcontinent, with incidences of 50–60% and 5–10%, respectively. Importantly, patients with PKDL are considered as reservoirs of VL, linking its eradication to effective control of PKDL. The etiopathogenesis of PKDL is presumably due to an immunological assault on latent dermal parasites. Immunological markers include IL‐10, whose expression in skin and plasma of Sudanese patients with VL predicted onset of PKDL. Cell‐mediated immune responses, notably restoration of IFN‐γ production by antigen‐stimulated lymphocytes are well documented in Sudanese PKDL, but remain ambiguous in the Indian form; recently, antigen‐specific IL‐10‐producing CD8+ lymphocytes have been implicated in pathogenesis. In Indian PKDL, upregulation of intralesional IFN‐γ and TNF‐α is counterbalanced by IL‐10 and TGF‐β together with downregulated IFN‐γ R1. Although IL‐10 curtails excessive IFN‐γ‐mediated reactivity and ensures parasite survival, its cellular source remains to be confirmed, with infiltrating regulatory T cells (Tregs) being a likely candidate. Future functional investigations on Tregs and their interaction with lesional effector lymphocytes would be indispensable for development of immunomodulatory therapies against Leishmania infection.
The human X‐chromosome and the levels of serum immunoglobulin M
Authors: Escobar Victor , Corey Linda A. , Bixler David , Nance Walter E. , Biegei Angenieta
Published: July 2010

The serum concentrations of immunoglobulins G, A and M were measured in a sample of 93 pairs of monozygotic twins, their spouses, and their offspring. The hypothesis that the human X‐chromosome carries genes which control the levels of immunoglobulin M was tested with three different approaches. Our results indicate that environmental factors are primarily responsible for the observed variation in the levels of IgG and IgA. The variance of IgM seems to be mostly the result of X‐linked gene effects, with women having higher IgM levels than men.
Turner's syndrome with a duplication‐deficiency X chromosome derived from a maternal pericentric inversion X chromosome
Authors: Maeda Tohru , Ohno Michiko , Takada Masumi , Nishida Masato , Tsukioka Kazuko , Tomjta Hajime
Published: July 2010

A 31‐year‐old woman of short stature with severe oligomenorrhea was found to carry a duplication‐deficiency X chromosome, 46, X, rec(X)dup q, inv(X)(p22qll), inherited from her mother who carried a pericentric inversion X chromosome, 46, X, inv(X)(p22qll). By a combination of autoradiography and BUdR incorporation, the duplication‐deficiency X chromosome was always found to be the inactive and late replicating one. In the cultured fibroblasts with the recombinant X chromosome, some of the cells were seen to have bipartite X chromatin bodies. In the mother with inv(X), the normal and the inverted X chromosome were inactivated at random.
Prenatal diagnosis of trisomy 20 mosaicism
Authors: Kardon Nataline B. , Lieber Ernest , Davis Jessica G. , Hsu Lillian Y. F.
Published: July 2010

Three cases of trisomy 20 mosaicism in amniotic fluid cell cultures are described. Two of the pregnancies resulted in normal full‐term infants. The third pregnancy was terminated and revealed a phenotypically normal fetus. A review of five previously reported cases is presented. Explanations of these findings include in vitro nondisjunction, culture of extraembryonic tissue, and true fetal mosaicism. The diagnostic dilemma this presents is discussed.
Automatic chromosome analysis
Authors: Lundsteen Claes , Bjerregaard Beth , Granum Erik , Philip John , Philip Kim
Published: July 2010

This paper describes an approach to the automatic analysis of banded B‐ and D‐group chromosomes, represented by band transition sequences (BT‐sequences), using Bayes formula in a simple way. The analysis considers the 14 BT‐codes constituting the BT‐sequence as being independent variables. Error rates of 6–8 % in classification experiments and 3–4 % in karyotyping experiments are clearly smaller than those reported by other authors using other methods. If the error rates of karyotyping are adjusted for errors in the basic material, they are reduced to 2–3 %. The reason for the small error rate is presumably that the BT‐sequences are superior to other methods for condensed band‐pattern description. The method will be incorporated into a programme system for automatic karyotyping.
The offspring of schizophrenic parents in a North Swedish isolate
Authors: Modrzewska Krystyna
Published: July 2010

This work concerns the children of schizophrenic parents born and resident in a North Swedish isolate during 1829–1960. The sample consists of 39 children whose parents were both schizophrenic and 514 children who had one schizophrenic parent. Controls were 624 children of unaffected parents of the same population and time period. Previous observations concerning lack of association between fecundity and schizophrenic psychoses were confirmed. The marriage rate for schizophrenics had decreased, probably because of earlier diagnosis and earlier hospitalization. These changes most likely depend on the integration of the isolate into the welfare state ‐ a considerable change as compared to conditions prevailing 30 or more years ago. The late fetal death ratio and the infant mortality rate were significantly increased for the offspring of schizophrenic parents. The occurrence of schizophrenic pyychoses and mental deficiency was significantly higher among children of schizophrenics. No association was found between the sex of the schizophrenic parent and the sex of their offspring, the incidence of stillbirths, the infant mortality rate, and the. incidence of schizophrenia or mental deficiency.
Two unrelated children with distal long arm deletion of chromosome 7: clinical features, cytogenetic and gene marker studies
Authors: Bernstein Renée , Dawson Bronwen , Morcom Glynn , Wagner Joan , Jenkins Trefor
Published: July 2010

Two phenotypically abnormal, unrelated children with deletion of the distal segment of 7q (7q32→pter) are described. In one instance the mother was the carrier of a balanced translocation between chromosomes 6 and 7, and in the second case the deletion was a de novo event. Their phenotypes were compared to previously reported cases and found to have many non‐specific clinical features in common. Gene marker studies for some of the genes tentatively localized to chromosome 7 showed no anomalous segregation. The Hageman coagulation factor (Factor XII) activity in bath probands was normal, and hetero‐zygosity for alleles of the Kidd blood group in the first proband excludes assignment of the Kidd locus to the distal portion of chromosome 7q.
The agglutination of Proteus vulgaris by cystic fibrosis serum: a re‐examination
Authors: Burdon M. G. , Stuart A. B.
Published: July 2010

The agglutination of the bacterium Proteus vulgaris by serum from cystic fibrosis patients and obligate heterozygotes was shown to be insufficiently specific or reproducible to be of diagnostic value by itself. Approximately 20% of healthy controls gave a substantial agglutination reaction, whereas the carrier frequency for cystic fibrosis is around 5%. The agglutination did not predominantly involve the bacterial flagella, but appeared to depend on components of the cell surface. The main serum proteins that bind to P. vulgaris cells were shown to be albumin, immunoglobulin G, and complement component C3. In addition, an unidentified protein(s) of low molecular weight was found to bind to the cells. However, no systematic differences were found in the proteins that bind to P. vulgaris cells between cystic fibrosis and normal sera.
Incidence of major chromosomal abnormalities in a referred population for suspected chromosomal aberrations: a report of 357 cases
Authors: Verma Ram S. , Dosik Harvey
Published: July 2010

The present report describes the cytogenetic findings in 357 cases referred for suspected chromosomal abnormalities because of abnormal clinical features. Chromosomal anomalies were found in 97 (27.2 %) of the cases studied. A significantly high rate of chromosomal abnormalities was found in a population with clinical abnormalities in comparison to an unselected population (0.48–0.55 %).
Nomenclature of GM2–gangliosidoses
Authors: Nørby Søren
Published: July 2010

As a supplement to the recently proposed systematic nomenclature for the genotypes and phenotypes of GM2–gangliosidoses (O'Brien 1978b), it is suggested that guidelines be adopted for the use of eponyms and type designations in connection with this group of sphingolipidoses. The biochemical genetics of the lysosomal β‐hexosaminidase system in man are briefly reviewed, and recommendations are proposed for the use of eponyms and type designations based upon a locus‐oriented framework.
Adult Gmi gangliosidosis: Clinical and biochemical studies on two patients and comparison to other patients called variant or adult Gm1 gangliosidosis
Authors: Wenger David A. , Sattler Martha , Mueller O. Thomas , Myers Garth G. , Schneiman Richard S. , Nixon G. William
Published: July 2010

Two young adult siblings were diagnosed as having a deficiency of acid β‐galactosidase activity in leukocytes and fibroblasts. The parents had enLyme levels approximately half of the normal level, consistent with this being the primary enzymatic lesion. Sialidase activities measured with natural and synthetic substrates in the patient's skin fibroblast cultures were normal. Hybridization of one of these patient's cells with cells from a patient with Gm1 gangliosidosis, Type 1 did not show complementation of β‐galactosidase activity. However. when the cells from the patient were hybridized with cells from a patient with combined sialidase and β‐galactosidase deficiency, complementation was observed. These two siblings have ataxia, mild intellectual deterioration, slurred speech, mild vertebral changes and little, if any, visceromegaly. They do not have myoclonus, seizures or cherry‐red spots, which are found in most patients with combined sialidase and β‐galactosidase deficiency. These patients are discussed with regard to other patients in the literature called variant or adult Gm1 gangliosidosis.
Cytogenetic evidence for the localisation of the gene for congenital adrenal hyperplasia
Authors: Webb Tessa , Mackintosh Pauline , Wells Linda J.
Published: July 2010

In the course of a study of the close linkage between the gene locus for the autosomal recessive disease, Congenital Adrenal Hyperplasia (CAH), and the major histocompatibility compIex (MHC), a cytogenetic survey was undertaken. In one family, where a crossover might have occurred between some loci in the MHC complex and the locus for the 21–hydroxylase gene, there was also a crossover between the MHC locus and the centromere of chromosome 6.
Genetic association in vitiligo: ABO, MNSs, Rhesus, KeII and Duffy blood groups
Authors: Wasfi A. I. , Saha N. , Munshid H. A. El , Sheikh F. S. El , Ahmed M. A.
Published: July 2010

One hundred and seventy Sudanese patients suffering from vitiligo were investigated for the distribution of A1A2BO, MNSs, Rhesus (genotypes), Kell and Duffy blood groups. The same genetic markers were investigated in Sudanese controls, consisting of two series: a published population series and a random sample of healthy blood donors. The relative frequencies of these blood groups were examined between the vitiligo patients and either or both of the control series. There was no significant association of ABO, Ss, Rhesus, Kell and Duffy blood groups in vitiligo. However, a significant association was observed with the MN system with an excess of homozygotes and of the M gene in vitiligo.
A new white forelock (poliosis) syndrome with multiple congenital malformations in two sibs
Authors: Goodman R. M. , Yahav Y. , Frand M. , Barzilay Z. , Nissan E. , Hertz M.
Published: July 2010

Two Jewish Ashkenazi male sibs are reported as having a new syndrome consisting of a white forelock, distinct facial features associated with congenital malformations involving the eye, cardio‐pulmonary and skeletal systems. It is postulated that the etiology of this disorder is genetic and transmitted either as an autosomal recessive or X‐linked recessive condition.
Genetic susceptibility to multiple sclerosis: a linkage analysis with age‐of‐onset corrections
Authors: Haile R. W. , Hodge S. E. , Visscher B. R. , Spence M. A. , Detels R. , McAuliffe T. L. , Park M. S. , Dudley J. P.
Published: July 2010

To test the hypothesis that a multiple sclerosis susceptibility (MSS) gene is linked to the HLA loci, formal linkage analysis was conducted on 40 multiplex families, 20 each from the Seattle and Los Angeles areas. The computer program LIPED was utilized. A dominant model of inheritance was assumed. Penetrance values of 0.05, 0.35, and 0.67 were entered into the analyses, and an age‐of‐onset correction was incorporated. The resulting lod scores were supportive of linkage at the lower penetrance levels. The maximum lod score, 2.411, at an estimated recombination fraction of 0.10 in both males and females, was generated at a penetrance value of 0.05. With a penetrance value of 0.67, the lod scores did not support linkage.

Under an autosomal dominant model of inheritance, the results were supportive of linkage when the presumed penetrance of the MSS gene is low. The results also confirmed the importance of incorporating an age‐of‐onset correction into linkage analyses.
Genetic counselling for adult polycystic kidney disease. Ultrasound a useful tool in pre‐symptomatic diagnosis?
Authors: Hogewind BarendL. , Veltkamp JanJ. , Koch CornelisW. , Graeff Jaap de
Published: July 2010

A study was performed to assess the reliability and sensitivity of ultrasound for the screening of asymptomatic children of patients with known adult polycystic kidney disease (APKD) and to compare this technique with the IVP and conventional laboratory techniques. Ultrasound appears to be at least as sensitive as IVP for identifying carriers of the gene for polycystic kidney disease. The identification of about 50 % of a group of 21 asymptomatic individuals‐at‐risk in the 21–30‐year age group as gene carriers, both with ultrasound and IVP, is promising for the early detection of this disease and therefore for genetic counselling in the future. This is the first step toward the construction of an age‐specific detection curve for gene carriers, which is necessary in order to be able to calculate the probability that symptomatic subjects‐at‐risk carry the APKD gene.
Addison disease and cerebral sclerosis in an apparently heterozygous girl: evidence for inactivation of the adrenoleukodystrophy locus
Authors: Heffungs W. , Hameister H. , Ropers H. H.
Published: July 2010

Cerebral sclerosis and Addison disease were observed at age 14 years in a previously healthy sister of an affected boy. Clinical findings and family history established the diagnosis of X‐linked adrenoleukodystrophy, which is normally confined to males. The affected female has a normal karyotype; both X chromosomes are morphologically inconspicuous. Thus, this patient may be the first documented example of clinically manifest adrenoleukodystrophy in a heterozygote, which supports our previous conclusion that this X‐linked locus is subject to inactivation.
Chlorpropamide‐alcohol flushing is not useful for individual genetic counseling of diabetic patients
Authors: Dreyer M. , Kühnau J. , Rüdiger H. W.
Published: July 2010

The presence or absence of chlorpropamide‐alcohol flushing (CPAF) was not correlated with the classification of diabetes. Five out of twelve patients with juvenile‐onset diabetes (JOD) flushed and three out of four patients with maturity‐onset diabetes in young people (MODY) did not flush. Consequently, CPAF cannot be used for individual genetic counseling in diabetes mellitus.
Prior abortions and neural tube defects
Authors: David T. J. , Townley P. A. , Goldstein AmandaR.
Published: July 2010

Out of a series of 219 women who had had a child with anencephaly or spina bifida (ASB) in the Manchester area, there were 69 where this ASB pregnancy had been both preceded and succeeded by at least one other pregnancy. There was a significant excess of spontaneous abortions when the preceding pregnancy was compared with the succeeding pregnancy. Half of these preceding abortions were followed by curettage of the uterus, a fact which is a little against the trophoblastic rest hypothesis.
Dominantly inherited macular degeneration (Best's disease) in a homozygous father with 11 children
Authors: Nordström S. , Thorburn W.
Published: July 2010

In Sweden, more than 250 cases of hereditary macular degeneration (HMD), inherited as an autosomal dominant trait and consistent with Best's disease, have been traced to one gene source in the 17th century. In this large material an apparently homozygous father was found, who was aged 56 and had 11 affected children. One of the children, aged 24, did not show any macular degeneration, but nevertheless she was considered to be a carrier of the HMD‐gene because she had pathological EOG‐values. The great variations in expressivity of the disease in the 11 children reflected what has been found as a rule in large Swedish families with HMD. The homozygotic stage did not seem to differ in clinical appearance from the heterozygotic.
Prenatal detection of intestinal obstruction: deficient amniotic fluid disaccharidases in affected fetuses
Authors: Morin P. R. , Potier M. , Dallaire L. , Melançon S. B. , Milunsky A.
Published: July 2010

Amniotic fluid samples from four fetuses with intestinal obstructions (two anal imperfora‐tions, one duodenal atresia and one multiple intestinal atresia) were deficient in disaccha‐ridase activities. These results indicate that disaccharidase assay in amniotic fluid can be used as a rapid and simple test for the prenatal detection of fetal intestinal obstructions.
Abnormalities of sexual differentiation in campomelic dwarfs
Authors: Pauli R. M. , Pagon R. A.
Published: July 2010

A case of campomelic dwarfism and abnormalities of the external genitalia in a male infant is reported and the sexual characteristics of all reported infants with this syndrome are reviewed.
Trisomy 18q: 46, XX,13q+,t(13;18)(q32;q11) in a newborn associated with multiple congenital anomalies due to paternal reciprocal translocation, 46, XY,‐13,+der(13)/t(13;18)(q32;q11)
Authors: Murthy D. S. Krishna , Patel Z. M. , Ambani L. M.
Published: July 2010

A 20‐day‐old female neonate presented with multiple congenital anomalies, convulsions and failure to thrive. Karyotype analysis of the proposita revealed an unbalanced translocation, 46, XX,13q+,t(13;18)(q32;qll)pat resulting in partial trisomy 18q. Her father and a 5‐year‐old sister were phenotypically normal, balanced translocation carriers, 46, XY, ‐13, + der(13),t(13;18)(q32;qll) and 46, XX,‐13,+der(13),t(13;18)(q32;qll), respectively. The case presented here is the second liveborn reported with trisomy 18q and is of interest from the point of view of the structural chromosomal aberration resulting in the manifestations of most features of trisomy 18 and some of 13q monosomy. The infant died due to convulsions at the age of 2 months.
A balanced translocation t(4;9) (q35;q12) with a breakpoint within the heterochromatic region of chromosome 9 in a woman with recurrent abortion
Authors: Neri Giovanni , Serra Angelo , Bova Renato , Natale M. Teresa , Tedeschi Bruna
Published: July 2010

A case of recurrent abortion was found to be associated with the presence in the mother of a balanced translocation between chromosomes 4 and 9. The karyotype of the proposita was: 46, XX, t(4;9)(q35;q12). The effects of this translocation are discussed in the light of other cases reported in the literature.
A new syndrome of triphalangeal thumbs and brachy‐ectrodactyly
Authors: Carnevale Alessandra , Hernández Maricela , Castillo Victoria del , Torres Pablo
Published: July 2010

Two Mexican families in which a total of 17 persons exhibited the same pattern of limb malformations are described. The syndrome is characterized by triphalangeal thumbs and brachydactyly affecting the index fingers and the third toes. The clinical findings are variable and the inheritance is autosomal dominant. The syndrome, to the best of our knowledge, has not been described before.
Assay of the β‐glucosidase activity with natural labelled and artificial substrates in cultivated skin fibroblasts from homozygotes and heterozygotes with the Norrbottnian type of Gaucher disease
Authors: Håkansson Gunilla , Dreborg Sten , Lindsten Jan , Svennerholm Lars
Published: July 2010

Fibroblasts from 13 homozygotes and 27 obligate heterozygotes with the Norrbottnian type of Gaucher disease and 17 controls were cultivated and assayed with five β‐glucosidase methods, two with D‐[glucose‐U‐14C] glucosylceramide and three with the artificial substrate 4‐methylumbelliferyl‐β‐glucoside. Two marker enzymes were assayed on the same cell samples, 4‐methylumbelliferyl‐β‐galactosidase and N‐acetyl‐β‐glucosaminidase. The β‐glucosidase activity of cultured fibroblasts, as measured with all five β‐glucosidase methods, was significantly lower (P < 0.001) for Gaucher homozygotes than heterozygotes. There was no overlap between fibroblasts from Gaucher homozygotes and the others with any of the β‐glucosidase methods used. The β‐glucosidase activity was also significantly lower (P< 0.001) for Gaucher heterozygotes than controls. However, none of the five β‐glucosidase assays differentiated between all Gaucher heterozygotes and controls, as several overlaps occurred in each assay.
Hereditary amyotrophic lateral sclerosis transmitted for five generations
Authors: Husquinet H. , Franck G.
Published: July 2010

The authors present a pedigree with amyotrophic lateral sclerosis in five generations. Dominant transmission with incomplete penetrance is likely.
The Wolf‐Hirschhorn syndrome
Authors: Lazjuk G. I. , Lurie I. W. , Ostrowskaja T. I. , Kirillova I. A. , Nedzved M. K. , Cherstvoy E. D. , Silyaeva N. F.
Published: July 2010

Most cases of Wolf‐Hirschhorn syndrome occurring among children who die during the perinatal period are not diagnosed by morphologists. However, analysis of the morphological data on the Wolf‐Hirschhorn syndrome reveals that association of typical external features and abnormalities of the brain (shortening of the H2 area of Ammon's horn, dystopic dysplastic gyrae in the cerebellum), eyes (colobomata, microphthalmos, retinal dysplasia) and kidneys (bilateral or unilateral agenesis, cystic dysplasia or polycystosis) with diaphragmatic hernia allows the establishment of a diagnosis of the syndrome without cytogenetic investigation.
Immunoglobulin concentration and Gm allotypes in a family with thirty‐three cases of myotonic dystrophy
Authors: Larsen B. , Johnson G. , Loghem E. VAN , Marshall W. H. , Newton R. M. , Pryse‐Phillips W. , Skanes V.
Published: July 2010

Serum IgG, IgA, and IgM concentrations were measured in 120 members of a family with 33 cases of Dystrophia myotonica (Dm) and 27 members who were “possibly affected”. The Dm individuals had significantly lower serum concentrations of IgG and IgA (P<0.01), while the “possibly affected” did not differ from the matched pair controls. IgG subclass concentrations were measured and Gm and Am types determined. The lower concentration of IgA in the affected individuals was not associated with a particular Am type. The concentration of IgG3 was barely lower in the affected than in the controls (P=0.05), but there were no differences for IgGl. When IgG3 concentration was compared according to Gm haplotype, only the two affected individuals who were Gm gg had a statistically significant lower concentration than the 12 controls (P<0.02). Thus, there is no evidence that a particular subclass of IgG is being hypercatabolized in our Dm patients. A rare Gm haplotype, Gm(‐, n, b) had entered the family with two brothers; it is not known whether this codes for an IgGl‐IgG3 hybrid molecule or a normal IgGl molecule with an unknown Gm allele or a yl deleted Gm haplotype.
Pericentric X chromosome ascertained during antenatal diagnosis
Authors: Evans Mark I. , Simpson Joe Leigh , Larsons John W. , Martin Alice O. , Sarto Gloria E. , Schulman Joseph D.
Published: July 2010

A pericentric inversion of an X chromosome [46, X, inv(X)(pllq28)] with no detectable deletions was ascertained by amniocentesis for prenatal diagnosis in a 42‐year‐old woman. No definitive counsel could be offered as such an inversion had not been previously reported. At 1 year, the infant appears normal. These data and the review of other recently published karyotypes suggest an absence of a somatic position effect in the human X chromosome and possible biases of ascertainment or possible alternative karyotypic interpretations of some previously reported inv(X) cases.
The use of probability trees in genetic counselling
Authors: Friedman J. M. , Fish R. David
Published: July 2010

Calculation of genetic risks of persons who may be carriers of X‐linked recessive conditions or autosomal dominant diseases with incomplete or delayed penetrance often requires the use of Bayes' theorem. Available methods of computing such risks are often too difficult or too time‐consuming for clinicians to use routinely. Probability trees provide a rapid and simple graphical means of estimating genetic risks even in complex clinical situations. The use of probability trees is easily learned because the logic upon which they are based is inherent in their structure.
Sotos syndrome with intestinal polyposis and pigmentary changes of the genitalia
Authors: Ruvalcaba R. H. A. , Myhre S. , Smith D. W.
Published: July 2010

We report two adult males with the Sotos syndrome, who also presented intestinal polyposis and pigmentary spotting of the shaft and glans penis. We propose that patients with the Sotos syndrome may develop hamartoneoplastic disease and we urge clinicians to consider this possibility in those patients.
Ring chromosome 15 in a male adult with radial defects. Evaluation of the phenotype
Authors: Meinecke Peter , Koske‐Westphal Thea
Published: July 2010

A case of a 37‐year‐old male patient with r(15) is reported. At birth he was small and light for dates. His main features are: short stature, head circumference in the lower normal range, mid‐facial hypoplasia, radial defects, and mental retardation.

Evaluation of the phenotype led us to conclude that a wide spectrum of malformations is possible. There is apparently no strong correlation between karyotype and phenotype.
Complex chromosome rearrangements:Report of a new case and literature review
Authors: Pai G. S. , Thomas George H. , Mahoney William , Migeon Barbara R.
Published: July 2010

A complex and unique, apparently balanced translocation involving three autosomes and an X in a phenotypically abnormal child is described. Family studies using glucose 6 phosphate dehydrogenase as a marker provided biochemical evidence of non‐random expression of this Xq locus and suggested that this de novo abnormality in the proband could be paternal in origin ‐ the first such instance to be recorded.
Familial occurrence of chromosome 7/12 translocation
Authors: Ming Pen‐Ming L. , Parker Renee , Goodner David M.
Published: July 2010

A new balanced autosomal translocation, t(7;12) (p12;p13), was found in a high genetic risk family in which the mother is a translocation carrier. She had 12 pregnancies, six of which were terminated during the first trimester by spontaneous abortions. Among the six live births, three children inherited the translocation from their mother and were phenotypically normal. The father and three other children had normal karyotypes.
Atrioventricular conduction time ‐a heritable trait?
Authors: Møller PÅL , Heiberg Arvid
Published: July 2010

Routine electrocardiographic tracings (ECGs) were obtained from 491 male and 236 female Norwegians. The atrioventricular conduction time (P‐R interval) was read independently on coded ECGs by two physicians. The frequency distributions are presented: mean ± 2 SD was 0.16 ± 0.04 s and 0.15 ± 0.04 s for males and females, respectively. Intra‐individual repeatability over 1 year was high, and the measurement error was small. Within each sex, body size, age, heart rate and non‐cardiac disease manifestations had little influence on the P‐R interval. The P‐R interval may be reliably determined in routine ECG tracinge by trained observers.
Atrioventricular conduction time ‐ a heritable trait?
Authors: Møller Pål , Heiberg Arvid
Published: July 2010

The atrioventricular conduction time was studied in 35 adult relatives of six and nine probands with short and long P‐R intervals, respectively. A significant difference between the distributions was found. The distribution patterns were compatible with the presence of major genes.
Two patients with an unusual form of type II fucosidosis
Authors: Schoonderwaldt H. C. , Lamers K. J. B. , Kleijnen F. M. , van den Berg C. J. M. G. , de Bruyn C. H. M. M.
Published: July 2010

Two brothers with an unusual form of fucosidosis are presented, providing further evidence for the clinical heterogeneity of the disease. The patients have several characteristics of type II, but from the point of view of progression rate and survival, they resemble more type III. However, the characteristic skin lesions of type 111 are not seen. In contrast to all other subtypes, a dry, thin skin is observed. The authors tend to classify these patients as a “slow motion” type II variant. Both in leukocyte lysates and plasma, severe α‐L‐fucosidase deficiency was established. In the parents, intermediate α‐L‐fucosidase activities were observed in leukocytes, but normal values in plasma, indicating that plasma is not suitable for carrier detection in this family. It is felt that no conclusions regarding clinical subtypes of fucosidosis can be drawn without careful characterization of the mutant enzyme in the primarily affected tissues.
Partial trisomy 21
Authors: Pueschel Siegfried M. , Padre‐Mendoza Teresita , Ellenbogen Richard
Published: July 2010

This report presents an 18½‐year‐old patient with clinical features of Down syndrome and severe mental retardation due to partial trisomy 21. Cytogenetic studies using Giemsa banding chromosomes revealed translocation of the 21q21 qter segment onto the short arms of chromosome #8 (46,XY,−8, +t(8qter 8p23::21q21 21 qter)). It is recommended that patients with features of Down syndrome whose chromosome analysis was done prior to introduction of banding studies undergo repeat karyotyping.