Camptodactyly in Sotos syndrome

We describe a girl with Sotos syndrome presenting at two and a half years age with developmental delay. She has camptodactyly which has not previously been reported in Sotos syndrome but is a common finding in Weaver syndrome. Both these conditions have been reported to have NSD1 gene mutations. This report is consistent with the conditions being allelic.     

Hepatic polyamine metabolism in children with Reye's syndrome.

Acute mitochondrial insult has been suggested as a primary reason for the clinical, histopathological and biochemical abnormalities seen in Reye's syndrome. However, the etiology of mitochondrial dysfunction has not been identified. Polyamines have been known to alter the mitochondrial structure and function. Influenza infection may cause an increase in ornithine decarboxylase activity and thereby channel ornithine for polyamine biosynthesis, leading to mitochondrial dysfunction in Reye's syndrome. To test this hypothesis, the hepatic concentrations of polyamines, polyamine-metabolizing enzymes and urea cycle enzyme activities in Reye's syndrome patients were determined and compared with patients who died from illnesses other than Reye's syndrome. The hepatic concentration of putrescine, spermidine and spermine were increased in Reye's syndrome patients. The activity of ornithine decarboxylase was elevated but, due to the small number of samples, these values did not reach statistical significance. Ornithine carbamoyltransferase activity was decreased in the liver of Reye's syndrome patients. Our results suggest that increased synthesis of polyamines from ornithine may initiate mitochondrial injury in Reye's syndrome.     

A case of Allgrove (Triple A) syndrome associated with renal ectopia

Allgrove syndrome (triple-A syndrome) is an autosomal recessive disorder characterized by adrenocorticotropin hormone-resistant adrenal insufficiency, achalasia and alacrima. Aside from the classic features of the syndrome, several abnormalities including mainly neurological abnormalities have been reported in the syndrome. Herein, we presented a case of Allgrove syndrome associated with left renal ectopla. To the best of our knowledge renal abnormality in Allgrove syndrome has not been reported in the literature until now. We think that ectopic kidney diagnosed in our patient is coincidental because the incidence of renal ectopia is high, approximately 1 in 900 in population.     

Diabetes mellitus in patients with aneuploid chromosome aberrations and in their parents

Summary The frequency of chemical diabetes is increased in patients with aneuploid sex chromosome aberrations such as Klinefelter's syndrome and Turner's syndrome, and a high frequency of chemical diabetes has been found in parents of patients with Down's syndrome. Abnormal pattern in plasma insulin and growth hormone during a glucose load has been found in patients with Klinefelter's syndrome and Turner's syndrome.These findings might, if they are confirmed on large and well selected groups of patients with different chromosome abnormalities, shed some new light on the genetic background of diabetes mellitus, i.e. on the role of the sex chromosomes in the aetiology of diabetes mellitus or alternatively on the possibility that the frequency of non-disjunction in increased in patients with diabetes mellitus.     

Time and natural history: the changing face

There is a considerable body of knowledge on the changing structures of the craniofacial complex in the anthropology literature, which dates back to the late 19th century. This awareness of change in phenotype has not been emphasized in dysmorphology and incorporated into syndrome diagnosis until recently. In contrast to the anthropological data, where serial craniofacial measurements document different rates of growth in the individual structures of the craniofacial complex, awareness of the evolution of phenotype, in dysmorphology, has been based on an appreciation of a changing gestalt. This work has been carried out principally in Noonan syndrome. Noonan syndrome is a cardiofacial syndrome in which affected individuals may be short and mildly mentally retarded. In this autosomal dominant disorder, a marked change of phenotype with age from the newborn period, infancy, childhood, adolescence, and adulthood has been documented. Similar variation with age is likely to be found in many other dysmorphic syndromes. Increasing insight into the evolution of phenotypes should markedly increase the potential for diagnosis.     

49,XXXXY syndrome with diabetes mellitus

49,XXXXY syndrome is a rare sex chromosome aneuploidy and characterized by mental retardation, skeletal defects, craniofacial anomalies and hypogonadism. The increased frequency of diabetes mellitus in patients with Klinefelter syndrome and other types of X-chromosome polysomy has been reported, but no cases of diabetes mellitus in adult with 49,XXXXY syndrome have been reported so far. We report an 18-year-old patient with 49,XXXXY syndrome accompanying diabetes mellitus.     

The maternal DDK syndrome phenotype is determined by modifier genes that are not linked to Om

The DDK syndrome is a polar, early embryonic lethal phenotype caused by incompatibility between a maternal factor of DDK origin and a paternal gene of non-DDK origin. Both maternal factor and paternal gene have been mapped to the Om locus on mouse Chromosome (Chr) 11. The paternal contribution to the syndrome has been shown to segregate as a single locus. Although the inheritance of the maternal contribution has not been characterized in depth, it as been assumed to segregate as a single locus. We have now characterized the segregation of the DDK fertility phenotype in over 240 females. Our results demonstrate that females require at least one DDK allele at Om to manifest the syndrome. However, the DDK syndrome inter-strain cross-fertility phenotype of heterozygous females is highly variable and spans the gamut from completely infertile to completely fertile. Our results indicate that this phenotypic variability has a genetic basis and that the modifiers of the DDK syndrome segregate independently of Om. Received: 24 November 1998 / Accepted: 19 January 1999     

Report of a girl with Klippel-feil syndrome and Poland anomaly

Report of a girl with Klippel-feil syndrome and Poland anomaly: Klippel-Feil syndrome, consisting of the triad of a short neck, low posterior hairline, and limitation of neck movement, is a congenital anomaly characterized by the fusion of cervical vertebrae, Poland anomaly consists of unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. We report a 7-year-old girl with typical findings of Klippel-Feil syndrome and Poland anomaly. To the best of our knowledge a case of Klippel-Feil syndrome and Poland anomaly has not been described before, although a combination of Poland, Klippel-Feil and Moebius anomalies has been reported in the literature.     

Cyclospora cayetanensis: a review of an emerging parasitic coccidian

Cyclospora cayetanensis is a sporulating parasitic protozoan that infects the upper small intestinal tract. It has been identified as both a food and waterborne pathogen endemic in many developing countries. It is an important agent of Traveller's Diarrohea in developed countries and was responsible for numerous foodborne outbreaks in the United States and Canada in the late 1990s. Like Cryptosporidium, infection has been associated with a variety of sequelae such as Guillain-Barré syndrome, reactive arthritis syndrome (formally Reiter syndrome) and acalculous cholecystitis.There has been much debate as to where to place C. cayetanensis taxonomically due to its homology with Eimeria species. To date, the only genomic DNA sequences available are the ribosomal DNA of C. cayetanensis and three other species; within these a high degree of homology has been observed. This homology and the lack of sequence data from other Cyclospora species have hindered identification methods.     

The dysplastic naevus syndrome and endocrine disease.

Members of two different families were found to have the dysplastic naevus syndrome and coexistent endocrine abnormalities. The dysplastic naevus syndrome is probably inherited as an autosomal dominant trait and has been associated with other primary malignancies. This is the first time that it has been described in association with endocrine abnormalities.     

Somatic cell hybrid deletion map of human chromosome 18.

The creation of a physical map of chromosome 18 will be useful for the eventual identification of specific chromosomal regions that are critical in the occurrence of Edwards syndrome, the 18q- syndrome, and the 18p- syndrome. To begin the investigation of these syndromes, a physical map has been constructed to order random DNA fragments to specific portions of chromosome 18. A set of somatic cell hybrids that retain deletions or translocations involving chromosome 18 has been isolated and characterized. Over 200 lambda phage from a chromosome 18-specific library have been localized to 11 distinct regions of chromosome 18 using the chromosomal breakpoints present in the somatic cell hybrids.     

代谢综合征与肠道菌群的关系及中药防治研究现状

代谢综合征系多种代谢紊乱汇集于一身,随着生活水平提高发病率逐年升高的一种疾病,已成为全球公共健康问题。随着现代医学发展,肠道菌群在宿主代谢调控中发挥的重要作用逐渐被研究者重视。本文分析了肠道菌群在代谢综合征发生、发展中的潜在调节作用及炎性反应、能量代谢、神经内分泌等可能的作用机制,总结了单味中药、中药提取物及中药复方通过影响肠道菌群改善代谢综合征的研究进展。在今后研究中应进一步探索与代谢综合征相关的特定菌属,挖掘中药有效成分及其作用本质,走出中医药防治代谢综合征的创新之路。     

Craniofacial morphology in the velo-cardio-facial syndrome

The velo -cardio-facial syndrome is a recently delineated congenital malformation syndrome, probably of autosomal dominant inheritance. Previous reports have concentrated on facial, oropharyngeal, cardiac, speech, language, and psychological features of this fairly common syndrome. To date, no radiographic data have been presented which might help to further delineate the syndrome, nor has there been an explanation of the characteristic facial appearance seen in this syndrome. This current study reports on cephalometric evidence of platybasia (obtuse angulation of the cranial base) in the velo -cardio-facial syndrome. The finding of platybasia adds one more phenotypic feature to the syndrome and also may help to explain the facial features of retrognathia, malar flatness, and prominence of the nasal root.     

The surgical treatment of congenital webbing (pterygium) of the popliteal area.

We describe a case of congenital popliteal pterygium in conjunction with other specific congenital malformations. This syndrome has been called the quadruple syndrome. The literature is reviewed. A rationale for more aggressive treatment of this deformity is discussed. One child who has undergone major multiple nerve grafts as a part of the primary corrective surgery is reported. Her result has been pleasing to the patient, the parents, and the surgeons.     

Splenic hematoma as a first manifestation of cytomegalovirus infection

Splenic rupture is rare but life threatening complication of mononucleosis syndrome. It has been suggested that subcapsular splenic hematoma formation precedes rupture. The case of 44-year-old, previously healthy, male with splenic hematoma occurring after rising of heavy cargo is reported. Mononucleosis syndrome was suggested based on routine laboratory tests (elevated white blood cell count with predominance of lymphocytes and raised serum transaminases) and CMV infection was confirmed by serological test. Nonoperative management was used since the patient was hemodynamically stable with no further signs of splenic rupture. The same approach has been used in growing number of cases of patients with spontaneous splenic rupture in mononucleosis syndrome. Importance of considering splenic hematoma and/or rupture if abdominal pain occurs in the course of mononucleosis syndrome is outlined as well as importance of routine laboratory tests in suspecting mononucleosis syndrome in otherwise clinically silent patient.     

Fundamental-applied aspects of systemic inflammation in terms of physiologic and typical pathological process

The concept of systemic inflammatory response syndrome (SIRS) by sepsis as well as quality of SIRS criteria, classification, and PIRO system has been a subject to analytical criticism in terms of theory of physiologic and typical pathological process. It has been disclosed SIRS can be considered only as the syndrome, that solves particular clinical tasks, but not as a basic model of pathogenesis of critical states. In authors' opinion it is more correctly to discuss systemic inflammation as a typical pathologic process that appears as a complex of one or another "resuscitation" syndrome in a clinical course.     

Evidence against linkage of the gene for Usher's syndrome type 1 with group specific component (GC) on chromosome 4

A linkage of the gene for Usher's syndrome with group specific component (GC) on the long arm of chromosome 4 has been suggested by Pelias et al., in 1988. A panel of 38 individuals from 7 kindreds with Usher's syndrome type 1 has been established to test this hypothesis. A negative lodscore was found and close linkage was excluded.     

Neurological disorders: towards a mechanistic understanding of restless legs syndrome

Restless legs syndrome is a curious neurological disorder of unknown aetiology. A new study has found that Drosophila mutants in the fly homologue of a human gene, BTBD9, that has been implicated as a risk factor for restless legs display important features of the syndrome.