Partial duplication of the face: case report and review

Complete or partial facial duplication is a rare congenital malformation. A spectrum of structural abnormalities varying in degrees of severity has been described in affected individuals. We present discordance for facial duplication between monozygotic twins in which maxillary and mandibular duplication was present in one. The involved twin showed the following findings: ocular hypertelorism, bifidity of the nose, duplication of the maxilla, macrostomia, cleft of the lower lip, hamartoma of the vomer, supernumerary teeth, duplication of the mandibular teeth, bifidity of the tongue, and hamartoma of the floor of the mouth. Surgical management of the facial anomalies is discussed. A review of the literature and discussion of this rare malformation are presented.     

Left sided inferior vena cava duplication and venous thromboembolism: case report and review of literature

The etiology of venous thromboembolism in young patients is frequently associated with hereditary coagulation abnormalities, immunologic diseases, and neoplasia. The advent of radiological advances, namely Computed Tomography (CT) scans and venography has identified vena cava malformations as a new etiologic factor worthy of consideration. In this case report, we describe the unusual occurrence of venous thromboembolism in association with a duplicated inferior vena cava. Duplications of the inferior vena cava (IVC) are seen with an incidence of 0.2% to 3.0% in the general population. Embryogenesis of the IVC is a complex process involving the intricate formation and regression of numerous anastomoses, potentially leading to various anomalies. We present a 23-year-old Caucasian woman with IVC duplication who developed a deep venous thrombosis and multiple pulmonary emboli. Anomaly of the IVC is a rare example of a congenital condition that predisposes to thromboembolism, presumably by favoring venous stasis. This diagnosis should be considered in patients under the age of 30 with spontaneous occurrence of blood clots.     

石膏样小孢子菌面部感染1例并文献回顾

报道1例由石膏样小孢子菌感染所致的面癣.患者为5岁男童,外伤后致右侧面颊部红斑、丘疹、脓疱20余日于我科就诊.真菌镜检显示菌丝阳性;真菌培养生长石膏样小孢子菌.皮损外用酮康唑乳膏两周后复诊,痊愈.随诊观察1个月未见复发.     

In vivo canine oocyte maturation, fertilization and early embryogenesis: a review

This review reports existing and original data concerning the biology of the canine oocyte and early embryo. It describes specific aspects of intra- and extra-follicular maturation of the oocyte during the peri-ovulatory period, methods to detect ovulation, sperm survival and fertilization and timing of preimplantation embryo development.     

Phenotypic expansion of the interstitial 16p13.3 duplication: A case report and review of the literature

Genotype–phenotype analysis of at least 25 individuals with interstitial 16p13.3 duplications defines a recognizable syndrome associated with duplication of a critical Rubinstein–Taybi region encompassing only the CREBBP gene. Nevertheless, variable or incompletely penetrant phenotype has been reported previously. We here report a case of a 5-year old boy with a recognizable phenotype of this syndrome, including intellectual disability, mild arthrogryposis, small and proximally implanted thumbs and characteristic facial features. In addition, growth delay, microcephaly and distinguishable structural brain MRI abnormalities were observed. A de novo 1.5 Mb interstitial duplication of 16p13.3 was detected by SNP-array and fluorescence in situ hybridization (FISH). Short tandem repeat polymorphism (STRP) analysis with marker D16S475 indicated that the duplication was formed before maternal meiosis II. Our findings highlight the variable clinical features and further expand the phenotypic spectrum correlated with this lately proposed syndrome.     

Leg duplication and kidney agenesis: case report and pathogenic considerations

A case is given of a male born with a total duplication of the left leg. In addition, ipsilateral kidney agenesis was found. Three possible mechanisms of leg duplication are given. The association with renal agenesis is discussed in terms of a polytopic developmental field defect.     

Neonatal appendicitis mimicking intestinal duplication: a case report

ABSTRACT: INTRODUCTION: Acute appendicitis is a common disease in older children but rare in neonates. CASE PRESENTATION: We report the case of a 2-day-old Asian baby who suffered from neonatal appendicitis mimicking intestinal duplication. Laparoscopic appendectomy was successfully performed after the trans-umbilical division of adhesions, and the postoperative course was uneventful. CONCLUSION: There are few reports describing abdominal masses caused by appendicitis mimicking intestinal duplication. The laparoscopic approach for neonatal appendicitis is considered to be a safe and useful therapeutic modality with good cosmetic results.     

Autism spectrum disorder, Klinefelter syndrome, and chromosome 3p21.31 duplication: a case report

Autism spectrum disorders are heterogeneous in nature with idiopathic and genetic origins. We present a 7-year-old boy with a long history of multiple behavioral concerns, poor school performance, repetitive/compulsive tendencies, poor social skills, and language delays. A multidisciplinary evaluation concluded that the patient met full criteria for autism. A genetic evaluation demonstrated Klinefelter syndrome 47, XXY karyotype with concurrent duplication of 3p21.31 by microarray analysis. Maternal genetic analysis demonstrated the same 3p21.31 duplication. The potential implication with regard to autism spectrum disorders has not been previously discussed in the literature.     

Unilateral duplication of the cerebellar hemisphere and internal, middle, and external ear: a clinical case study

This article presents the unique congenital anomaly complex of ipsilateral cerebellar hemisphere duplication and internal, middle, and external ear duplication. Diagnostic techniques included a head CT scan, a three-dimensional head CT scan, and a head MRI. An aberrant notochordal split was proposed as the embryologic mechanism leading to the development of such anomalies.     

Gene duplication: past, present and future

Gene duplication is of central interest to evolutionary developmental biology, having been implicated in evolutionary increases in complexity. These ideas stem principally from the Lewis model for the evolution of the BX-C and Ohno's proposal for genome duplications during chordate evolution. Here I revisit these models and show how recent data have confirmed their essential features, but forced some important revisions. These include revised dates for homeotic gene duplications and for widespread gene duplication in vertebrate evolution. I also outline the major unresolved questions in the study of gene duplication, and its relevance to evolution and development.     

Partial duplication of the long arm of chromosome 5: A case due to balanced paternal translocation and review of the literature

Summary A partial duplication of the distal segment of the long arm of chromosome 5 (q31qter) was observed in an infant with congenital malformations and dysmorphic features. The phenotypically normal father had a balanced translocation between the long arm of chromosome 5 and the short arm of chromosome 9: 46,XY,t(5;9)(q31;p24).The clinical and cytogenetic data obtained from six patients with partial duplications of two different long arm segments of chromosome 5 suggest that partial duplication of the distal long arm of chromosome 5 is associated with microcephaly, hypertelorism, epicanthus, strabismus, large upper lip, low-set, dysplastic ears, in addition to growth and psychomotor retardation. Partial duplication of the proximal part of the long arm of chromosome 5, on the other hand, is associated mainly with musculoskeletal abnormalities including muscle hypotrophy and hypotonia, scoliosis, lordosis, pectus carinatum, cubitus valgus, and genu valgum, in addition to psychomotor retardation. The dysmorphic features in this latter group include a bulging forehead, short nose, thick upper lip, low-set protruding ears and tapering, thin fingers.     

The application of region-specific probes for the resolution of duplication 8p: a case report and a review of the literature

The structural rearrangement in the short arm of a chromosome 8 in a clinically affected patient has been reinvestigated by FISH using whole chromosome painting and region specific YAC probes. An inverted duplication of the segment p22-->p11.2 and a deletion of the subtelomeric region were demonstrated. By this approach, a more detailed resolution of the duplication/deletion 8p was possible. With the application of molecular cytogenetic methods the existence of different duplication segments within the clinical entity of duplication/deficiency 8p can be shown.     

Pulmonary hypertension, hyperthyroidism, and fenfluramine: a case report and review

We report a case of pulmonary hypertension presenting with sudden cardiac arrest, hyperthyroidism and fenfluramine usage. This fatal case of pulmonary hypertension and valvular heart disease is associated with the use of an anorectic drug that had been withdrawn from the market more than eight years ago. Clinicians should alert to the side effects of appetite suppressant and slimming agents. The association between pulmonary hypertension in relation to hyperthyroidism and fenfluramine usage is reviewed.     

Gene duplication,genome duplication,and the functional diversification of vertebrate globins

The functional diversification of the vertebrate globin gene superfamily provides an especially vivid illustration of the role of gene duplication and whole-genome duplication in promoting evolutionary innovation. For example, key globin proteins that evolved specialized functions in various aspects of oxidative metabolism and oxygen signaling pathways (hemoglobin [Hb], myoglobin [Mb], and cytoglobin [Cygb]) trace their origins to two whole-genome duplication events in the stem lineage of vertebrates. The retention of the proto-Hb and Mb genes in the ancestor of jawed vertebrates permitted a physiological division of labor between the oxygen-carrier function of Hb and the oxygen-storage function of Mb. In the Hb gene lineage, a subsequent tandem gene duplication gave rise to the proto α- and β-globin genes, which permitted the formation of multimeric Hbs composed of unlike subunits (α₂β₂). The evolution of this heteromeric quaternary structure was central to the emergence of Hb as a specialized oxygen-transport protein because it provided a mechanism for cooperative oxygen-binding and allosteric regulatory control. Subsequent rounds of duplication and divergence have produced diverse repertoires of α- and β-like globin genes that are ontogenetically regulated such that functionally distinct Hb isoforms are expressed during different stages of prenatal development and postnatal life. In the ancestor of jawless fishes, the proto Mb and Hb genes appear to have been secondarily lost, and the Cygb homolog evolved a specialized respiratory function in blood-oxygen transport. Phylogenetic and comparative genomic analyses of the vertebrate globin gene superfamily have revealed numerous instances in which paralogous globins have convergently evolved similar expression patterns and/or similar functional specializations in different organismal lineages.     

A review of FGF18: Its expression, signaling pathways and possible functions during embryogenesis and post-natal development

FGF18 is a novel growth factor first reported in 1998. Current evidence suggests that FGF18 may play a prominent role in chondrogenesis and osteogenesis during skeletal development and growth. However, its function extends to many other biological processes. Although there remains much to be discovered and investigated on the functions and mechanisms of FGF18, it may play a role as a useful therapeutic target for various applications. The following review summarizes the current knowledge on FGF18 with special emphasis on its skeletal functions and highlights its potential areas for future research.     

Barley polyamine oxidase isoforms 1 and 2, a peculiar case of gene duplication

Polyamine oxidases (PAOs, EC 1.5.3.11) are key enzymes responsible for the terminal catabolism of polyamines in plants, bacteria and protozoa. In barley, two PAO isoforms (HvPAO1 and HvPAO2) have been previously analyzed as regards their tissue expression and subcellular localization. Only the major isoform HvPAO2 has been biochemically characterized up to now. In order to study the ear-specific expression of the HvPAO1 isoform in detail, RT-PCR analysis was performed in barley on the whole ear and on various ear tissues. Moreover, HvPAO1promoter::GUS transient expression was examined in barley developing caryopses at 30-day postfertilization. Results from these analyses have demonstrated that the HvPAO1 gene is specifically expressed in all the ear organs analyzed (i.e. basal lemma, rachis, awn, embryo-deprived caryopsis, embryo and sterile spikelets), at variance with the HvPAO2 gene, which is expressed at high levels in sterile spikelets and at very low levels in embryos. We purified HvPAO1 from barley immature caryopses and characterized its catalytic properties. Furthermore, we carried out in vitro synthesis of HvPAO1 protein in a cell-free translation system. The HvPAO1 enzymes purified from immature caryopses and in vitro synthesized showed the same catalytic properties, in particular, an optimum at pH 7.0 for Spd and Spm oxidation and comparable Km values for both substrates, i.e. 0.89x10(-5) M and 0.5x10(-5) M for Spd and Spm, respectively. It has been found that HvPAO1 enzyme activity significantly differs in substrate specificity and pH optimum when compared with the major isoform HvPAO2. As a whole, these data strongly suggest that, in barley, the two PAO genes evolved separately, after a duplication event, to code for two distinct tissue-specific enzymes, and they are likely to play different physiological roles.