Phenotypic features of pure 9p deletion in a male infant include cryptorchidism, congenital heart defects and postaxial polydactyly.

We report a 2 1/2-year-old male infant with a karyotype of 46,XY,del(9)(p22) and the phenotypic features of craniofacial dysmorphisms, hypotonia, psychomotor developmental delay, mental retardation, ventricular septal defect, atrial septal defect, cryptorchidism and postaxial polydactyly of the fingers. A rudimentary poorly developed extra digit in the ulnar side of the fifth finger was observed in each hand. The present case adds to the literature of postaxial hexadactyly of the fingers in chromosome 9p deletion syndrome. We suggest that 9pter-p22 may contain genetic loci associated with human postaxial polydactyly.

Partial monosomy 3p (3p26.2 --> pter) and partial trisomy 5q (5q34 --> qter) in a girl with coarctation of the aorta, congenital heart defects, short stature, microcephaly and developmental delay.

A 1-year-and-3-month-old girl presented with psychomotor retardation, developmental delay, clinodactyly of the thumb, coarctation of the aorta, patent ductus arteriosus, peripheral pulmonary stenosis, atrial septal defect, microcephaly, brachycephaly, a small oval face, almond-shaped eyes, a down-turned mouth, a widened nasal bridge, hypertelorism, epicanthic folds, long philtrum, low-set large ears and but no craniosynostosis. Oligonucleotide-based array comparative genomic hybridization revealed a -4.79-Mb deletion of 3p26.2 --> pter encompassing CHL1 and CNTN4, and a -19.56-Mb duplication of 5q34 --> qter encompassing MSX2, NKX2-5 and NSD1. The karyotype of the girl was 46,XX,der(3)t(3;5)(p26.2;q34) pat. The present case adds distal 5q duplication to the list of chromosome aberrations associated with coarctation of the aorta.

Regulation of protein expression and function of octn2 in forskolin-induced syncytialization in BeWo Cells.

Placental OCTN2 is a high-affinity carnitine transporter that can interact with a number of therapeutic agents. The process of syncytialization is associated with the expression of a variety of genes. However, the association between syncytialization and OCTN2 expression is not yet clear. Given that forskolin induces BeWo cells to undergo biochemical and morphological differentiation, the purpose of the present study was to investigate whether the function and expression of OCTN2 are influenced by forskolin treatment during syncytialization. The forskolin-induced differentiation of BeWo cells was validated by secretion of beta-human chorionic gonadotropin (beta-hCG) and syncytin expression. Cellular localization of OCTN2 was analyzed by confocal microscopy. Expression of OCTN2 and the modular proteins PDZK1, PDZK2, NHERF1 and NHERF2 was analyzed by Western blotting and carnitine uptake by BeWo cells was estimated and the kinetic properties of uptake measured. The results showed that forskolin treatment increased beta-hCG secretion and syncytin expression, suggesting induction of syncytialization. Confocal images of BeWo cells showed the localization of OCTN2 in the brush-border membrane. OCTN2 protein expression was upregulated in isolated brush-border membranes by long-term forskolin treatment, but the V(m) for carnitine uptake was unchanged, although the K(m) increased. PDZK1, NHERF1 and NHERF2 protein expression in the brush-border membrane was downregulated by forskolin treatment, whereas PDZK2 levels remained unchanged. In conclusion, protein expression and function of OCTN2 in BeWo cells can be regulated by forskolin treatment. While the presence of forskolin results in an increase in OCTN2 protein expression, the increase in uptake capacity may be compensated by the decreased expression of PDZK1, NHERF1 or NHERF2.

Isolation and sequence analysis of the complete VP2 gene of canine parvovirus from Chinese domestic pets and determination of the pathogenesis of these circulating strains in beagles.

Canine parvovirus (CPV) causes acute gastroenteritis in domestic dogs, cats, and several wild carnivore species. In this study, the full-length VP2 gene of 36 CPV isolates from dogs and cats infected between 2016 and 2017 in Beijing was sequenced and analyzed. The results showed that, in dogs, the new CPV-2a strain was the predominant variant (n = 18; 50%), followed by the new CPV-2b (n = 6; 16.7%) and CPV-2c (n = 3; 8.3%) strains, whereas, among cats, the predominant strain was still CPV-2 (n = 9; 25%). One new CPV-2a strain, 20170320-BJ-11, and two CPV-2c strains, 20160810-BJ-81 and 20170322-BJ-26, were isolated and used to perform experimental infections. Multiple organs of beagles that died tested PCR positive for CPV, and characteristic histopathological lesions were observed in organs, including the liver, spleen, lungs, kidneys, small intestines, and lymph nodes. Experimental infections showed that the isolates from the epidemic caused high morbidity in beagles, indicating their virulence in animals and suggesting the need to further monitor evolution of CPV in China.

24 Mb deletion of 6q22.1-->q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism.

24 Mb deletion of 6q22.1-->q23.2 in an infant with pulmonary atresia, ventricular septal defect, microcephaly, developmental delay and facial dysmorphism.

Evolution of coronary artery pattern according to short-axis aortopulmonary rotation: a new categorization for complete transposition of the great arteries.

OBJECTIVES: We studied the correlation between coronary artery pattern and aortopulmonary rotation in complete transposition of the great arteries. BACKGROUND: Classifications of the coronary arteries in complete transposition are puzzling and incomplete. METHODS: Coronary artery anatomy and relation of the great arteries were identified at angiography, echocardiography, surgical intervention or autopsy in 76 patients with complete transposition from 1988 to 1993. Five main types (type 0 and Shaher types 1,2,4 and 9) and their similar variants of epicardial configuration were categorized into five patterns (O, I, II, IV and IX). In addition, data from 568 cases from published reports were collected for analysis. RESULTS: As the aorta rotated from a left anterior to a directly anterior location relative to the pulmonary trunk, the left anterior descending coronary artery arose from the left-hand sinus together with the right coronary artery (type 0, one case decreased to no cases); then it gradually shifted to the left to have the same origin as the left circumflex coronary artery from the right-hand sinus (type 1, 10 cases increased to 146, p < 0.0003). When the aorta rotated farther clockwise from directly anterior to right anterior (type 1, 146 cases increased to 235; type 2, 9 cases increased to 50, p < 0.0006) or from right anterior to right lateral (type 1, 235 cases decreased to 6 cases; type 2, 50 cases decreased to 20, p < 0.00000), the left circumflex coronary artery tended to move retropulmonically and originated from the left-hand sinus with the right coronary artery (type 2). When the aorta moved from right anterior to right lateral (type 2, 50 cases decreased to 20; type 4, 13 cases increased to 14, p < 0.031) or from right lateral to right posterior (type 2, 20 cases decreased to 1; type 4, 14 cases increased to 16, p < 0.0003), the right coronary artery shifted to the right-hand sinus anteaortically to join the left anterior descending coronary artery (type 4). Finally, the left anterior descending coronary artery combined with the left circumflex coronary artery (type 9, 12 cases increased to 21, p = 0.407) to become the usual pattern for normally related great arteries. Eta-square analysis showed that the evolution from pattern O to IX was dependent on clockwise aortopulmonary rotation. CONCLUSIONS: The coronary arteries in complete transposition of the great arteries can be classified into five patterns and their evolution deduced on the basis of aortopulmonary rotation. Dependence of coronary artery type on aortopulmonary rotation made it possible to anticipate the coronary pattern from the relation of the great arteries in transposition.

Frequency of associated anomalies in congenital hypoplasia of depressor anguli oris muscle: a study of 50 patients.

Aside from congenital heart disease, anomalies associated with unilateral hypoplasia of the depressor anguli oris muscle have not been well-documented in large series. We evaluated the associated anomalies in 50 infants or children with this disorder (male:female = 2:1) and found accompanying anomalies in 35 (70%) of 50 cases. They included anomalies of the head and neck (48%), heart (44%), skeleton (22%), genitourinary tract (24%), central nervous system (10%), gastrointestinal tract (6%), and miscellaneous minor anomalies (8%). Nearly half of our cases (22/50) had at least 2 associated systemic anomalies. Failure to thrive and psychomotor retardation were found in 5 (10%) and 3 (6%) patients, respectively, on follow-up. Three infants died neonatally of severe heart disorders, and the other one died of central nervous system anomalies. The above findings indicate that a thorough search for associated anomalies, particularly in the cardiovascular system, should be performed in all newborns with asymmetric crying face.

Efficacy of plasmin-treated intravenous gamma-globulin for therapy of Kawasaki syndrome.

In order to delineate the efficacy of plasmin-treated intravenous gamma-globulin (IVGG) in the treatment of Kawasaki syndrome, we compared the frequency of coronary artery abnormalities in children treated or not with IVGG for Kawasaki syndrome. Among 291 cases of Kawasaki syndrome diagnosed during the period of 1987 to 1991 without coronary abnormalities within 10 days of the onset of illness, 128 were treated with IVGG and aspirin and were compared with 163 treated with aspirin alone. IVGG was given in a dosage of 400 mg/kg/day for 4 consecutive days. The detection of coronary abnormalities was monitored by two dimensional echocardiography. Two weeks after enrollment coronary artery abnormalities were present in 37 (22.7%) of 163 children in the aspirin group and in 9 (9%) of 128 in the gamma-globulin group (P < 0.05). Seven weeks after enrollment, abnormalities were present in 20 (12.3%) of 163 children in the aspirin group and in 6 (4.6%) of 128 in the IVGG group (P < 0.05). We conclude that plasmin-treated IVGG is effective in reducing the prevalence of coronary artery abnormalities in Kawasaki syndrome and suggest a predominant role of the Fc gamma fragment of IgG in the therapeutic effect.

Characterization of Monoclonal Antibodies to the Zta and DNase Proteins of Epstein-Barr Virus.

Two monoclonal antibodies (mAb) were derived and designated 4F10 and 311H. 4F10 was against the Epstein-Barr virus (EBV) Zta protein and 311H specifically recognized EBV DNase enzyme. Using mAb 4F10 as a probe, the Zta protein could be detected as a 36-kD molecule in L5 cells and as a 38-kD molecule in B95-8 cells, reflecting the fact reported by other laboratories, using rabbit polyclonal antisera, that the Zta protein was variously modified in different host cells. 311H mAb was generated using antigens purified from one-step His-Bind column chromatography. The antigenic epitope recognized by this mAb was mapped within the residues 1-152 of EBV DNase by reacting the mAb with three distinct truncated mutants. Also, using 311H as a reagent to trace the kinetic expression of EBV DNase proteins in EBV-infected Akata cells, the Western blotting results indicated that DNase antigen could be detected at 12 h postactivation. The feasibility of applying these two mAb in the investigation of EBV biology is discussed. Copyright 1997 S. Karger AG, Basel

Modified arterial switch operation by spiral reconstruction of the great arteries in transposition.

BACKGROUND: Spiral relationship of the normally related great arteries (SRGA) has never been reconstructed in an arterial switch operation. METHODS: From March 1998 to April 1999, 9 consecutive cases of transposition of the great arteries (TGA) family (from 2 days to 1.6 years old) underwent arterial switch operations with SRGA at our hospital. Two had a congenitally corrected TGA (plus atrial redirection). Lecompte maneuver was not used in all. The posterior wall of pulmonary trunk was not divided but three were reattached, two of whom had had previous pulmonary trunk banding. Thus the wall was shared between the great arteries facing each other. RESULTS: All survived the operation. Supraaortic stenosis was balloon-dilated in 2 cases of early series, but technical modifications later were able to avoid it. Angiogram showed smooth flow into SRGA without upward and anterior tilting of the pulmonary bifurcation. All great and coronary arteries were patent. All were doing well on follow-up (16.5 +/- 4.2 months). CONCLUSIONS: We concluded that the techniques to relocate the coronary arteries using common wall and in situ switch could also be applied to pulmonary arterial reconstruction, so that SRGA can be resumed in TGA.

A novel EBNA-1 tag system for high level expression and efficient detection of fusion proteins in vitro and in vivo.

A highly specific monoclonal antibody, which recognises an epitope between amino acids (aa) 408 and 446 of EBNA-1, was found to immunoprecipitate this protein with great efficiency. By adding a 39-aa tag, the BGLF4 protein product of EBV was shown to express in the cytoplasm of transfected cells. This EBNA-1 tag could be used for the detection of specific protein expression by immunoblotting, immunofluorescence and, especially, immunoprecipitation assays. A plasmid vector encoding this EBNA-1 tag sequence was therefore designed for efficient expression both in vitro and in vivo. The efficient translational start signal of black beetle virus (BBV) was placed under the control of the SV40 or T7 promoters, and the beta-globin splicing signal used to enhance the transportation of mRNA from the nucleus to the cytoplasm.

Molecular characterization of a cDNA clone encoding the Epstein-Barr virus (EBV) DNase.

RNA from IdUrd-treated P3HR1 cells was used for the construction of a cDNA library and screened with B95-8 EBV DNA BamHI fragment B and G probes. One clone, BG9, containing a 1.7 kb cDNA insert was further studied. Complete DNA sequence analysis revealed that BG9 encompassed the B95-8 EBV DNA sequences from nucleotide 120,747 to nucleotide 122,412 and corresponded to the BGLF5 open reading frame of the EBV DNase gene. Comparison of the sequences of BG9 with that of published B95-8 EBV DNA indicated that there were 14 different bases which results in 7 amino acid residue changes. The product of in vitro transcription/translation of a subclone, pGEM-BG9, contained the EBV DNase activity and a 52 kDa protein was immunoprecipitated from the in vitro translation products using serum from a patient with nasopharyngeal carcinoma which contained a high level of anti-DNase activity. Northern hybridization of P3HR1 RNA with the BG9 probe revealed a complex pattern of transcription in this region. Subgenomic DNA fragments were then used to map these RNA species to the B95-8 EBV DNA sequence. The result of S1 nuclease analysis indicated that a DNase ORF containing transcript sized 2.0 kb is initiated at nucleotide 122,435 +/- 1 and terminated at nucleotide 120,741 of the EBV genome.

Angiographic classification of ventricular septal defects in tetralogy of Fallot.

The ventricular septal defect (VSD) in Fallot's tetralogy (TF) was classified into four types: perimembranous (PM), muscular outlet (MO), doubly committed subarterial (DS), and DS with perimembranous extension. From July 1990 to June 1992, we used angiocardiography to define preoperatively the types of VSD in 30 cases of TF, and correlated them with the operative findings. The angiographic images used to identify the types of VSDs were anteroposterior (AP) plus cranial tilting 20-30 degrees, right anterior oblique 30 degrees plus cranial tilting 30 degrees (elongated RAO view) and true lateral view of right ventricular (RV) angiography. DS type and MO type had a shadow of muscle bar postero-inferiorly in the AP and elongated RAO views, while perimembranous type and MO superiorly in the lateral view. DS with perimembranous extension type was devoid of both shadows. The results revealed 73% accuracy rate of prediction by angiocardiography. Most of the incorrectly predicted cases were attributed to a tiny inferior muscle bar in MO type and was mistaken as pm type VSD. We conclude that routine RV angiography before correction of tetralogy of Fallot to identify the types of VSDs is feasible. This information facilitates planning of surgical strategy.

Is the sinus node visible grossly? A histological study of normal hearts.

The sinus node is said to be occasionally visible in the human heart, while some have denied this visibility. This histological study of the normal sinus node was made on 11 adults and 10 infants. The node was always located subepicardially along the terminal groove at the junction of the superior caval vein and the right atrium. When no fatty infiltration (all infants and 2 adults) or minimal fatty tissue (2 adults) was found over the epicardial side of the node, it was not visible grossly. When fatty infiltration was obvious, then the node could be identified grossly as a yellowish spindle-shaped structure along the terminal groove. This arrangement was observed in 7 adults. The majority of nodes were in lateral position, but the so-called horseshoe arrangement was seen in 2 infants and 2 adults. The artery to the sinus artery was located centrally or eccentrically in the majority of cases, but the artery ramified through the nodal substance in 1 infant and 4 adults. We conclude that the node is not visible grossly in either the infant hearts or in those adult hearts without fatty infiltration. The whole cephalic part of the terminal groove should be carefully avoided to be sure of preventing the injury to the node during cardiac surgery.

Case report: agenesis of the right lung diagnosed by three-dimensional reconstruction of helical chest CT.

Unilateral pulmonary agenesis is extremely rare and the diagnosis can be made by a number of conventional methods. We report two cases: a 16-day-old girl and a 14-year-old girl presenting with tachypnoea in whom three-dimensional reconstruction of helical chest computed tomography was used to demonstrate the complete absence of the carina, right main bronchus and right lung. To our knowledge, these are the first cases of right lung agenesis diagnosed by this method.

Complete myocardial revascularization using only pedicled arterial conduits in Kawasaki disease.

A 16-year-old boy with Kawasaki disease suffered from progressive angina and exercise intolerance for 1 year. Coronary angiography showed 60% stenosis of the left main coronary artery, a calcified aneurysm with total occlusion at the proximal left anterior descending artery (LAD), and another aneurysm with total occlusion at the middle portion of the right coronary artery. Aortocoronary bypass was done with the left internal mammary artery (IMA) anastomosed to the first obtuse marginal branch, the right IMA to the distal LAD, and the right gastroepiploic artery to the posterior descending artery. Graft patency was documented by follow-up coronary angiography 1 month after surgery. During follow-up, his rapid improvement led to an upgrade from New York Heart Association functional class III to class I. The results of the present case suggest that complete myocardial revascularization using arterial conduits in patients with Kawasaki disease with coronary artery occlusion is safe and effective.

Right pulmonary artery arising from ascending aorta: report of a successfully treated case.

A nine-day-old neonate presented with signs of congestive heart failure during the first week of life. The echocardiogram showed an early bifurcating great vessel originating from the left ventricle. In addition, there was another vessel originating from the right ventricle directly connected to the descending aorta without early branching into the bilateral pulmonary arteries. A muscular ventricular septal defect (VSD) was also found. Cardiac catheterization and angiography showed that: 1) the anomalous origin of the right pulmonary artery arose from the ascending aorta; 2) a large patent ductus arteriosus (PDA) connected the main pulmonary artery and the descending aorta; and 3) a muscular VSD existed. Magnetic resonance imaging also demonstrated the above findings. Reimplantation of the anomalous right pulmonary artery to the main pulmonary artery and ligation of the PDA were done. To the best of our knowledge, this very unusual case is the first such neonatal case with successful surgical repair in Taiwan.

Modified arterial switch operation by sharing the common wall between the great arteries.

BACKGROUND: Suprapulmonary stenosis and coronary arterial obstruction still remain as problems after an arterial switch operation (ASO). We used a modified ASO applying the common wall and in situ transfer techniques to improve the current procedure. METHODS: From October 1996 to December 1997, 11 babies aged 6 days to 3 months with transposition of the great arteries underwent a modified ASO which included sharing the common wall between the great arteries until above the anterior neoaortic suture-line for coronary and pulmonary artery reconstruction. Coronary arteries were of usual type in three cases, juxtacommissural origin in five, and a high takeoff in one; all were redirected almost in situ. RESULTS: There was no early death (< 30 d), coronary or bleeding problems. One late death occurred after a repeat surgery for suprapulmonary stenosis. This was caused by upward stretching of the left pulmonary artery, which was placed above the high left-sided neoaortic anastomosis for in situ transfer of the high takeoff coronary arteries. Intraluminal growth of the adventitia also contributed to suprapulmonary stenosis, which decreased significantly when the common wall adventitia was cleaned in the last two cases we operated on. Ten patients were doing well at follow-up (30.9 +/- 5.2 mo). CONCLUSIONS: This modified ASO by common wall and in situ transfer might avoid coronary kinking and lessen the chance of postoperative bleeding. To avoid suprapulmonary stenosis, common wall adventitia inside the pulmonary pathway should be cleaned, and the left and right pulmonary arteries should also be kept in situ as possible as in coronary redirection.

Valveless outflow reconstruction using autologous tissue as a posterior wall for pulmonary atresia with ventricular septal defect.

BACKGROUND AND PURPOSE: Reoperation is inevitable for some patients with pulmonary atresia who receive a heterograft or homograft in a primary Rastelli operation. Nonetheless, the need for reoperation in patients with classic Fallot's tetralogy who have undergone total correction with a transannular patch is unusual. We sought to change pulmonary atresia into Fallot's tetralogy and used a transannular patch instead of the conventional Rastelli operation. PATIENTS AND METHODS: Valveless outflow direct reconstruction was performed on 10 consecutive patients with pulmonary atresia and ventricular septal defect between August 1997 and 1999. Patient ages ranged from 1.3 to 11.5 years. A Blalock-Taussig shunt was previously constructed in four of these patients and a central shunt was constructed in five. The major aortopulmonary collateral arteries were occluded in one patient by repeated coil embolization after the central shunt. The strategy was to connect the right ventriculotomy with the pulmonary arteries directly, even if there was a gap with a long atretic cord. In patients with a previous central shunt covered with a Gore-Tex membrane, the reactive visceral pericardium over the in situ tissue (the left atrium, right ventricle, or aorta) was used as the autologous posterior wall. Thus, only autologous, fresh pericardium without a valve was used to cover the anterior part of the right ventricular outflow tract, as in the repair of classic Fallot's tetralogy with a transannular patch. RESULTS: There was no mortality, and the postoperative central venous pressure was low in all patients. No gradient was noted across the right ventricular outflow tract. Follow-up echocardiography revealed a competent tricuspid valve with mild pulmonary regurgitation in all patients. CONCLUSIONS: The results of this study suggest that valveless outflow direct reconstruction provides adequate pulmonary circulation without hypertension in pulmonary atresia patients with a ventricular septal defect if the tricuspid valve is competent.

Combined atrial and arterial switch operations for congenitally corrected transposition.

Conventional repair of congenitally corrected transposition of the great arteries (CCTGA) is directed at eliminating the associated defects and leaves the right ventricle in a systemic position. The long-term outcome of this procedure may involve deterioration of right ventricular function with tricuspid regurgitation and failure of the conduction system. We describe two consecutive patients with CCTGA, one of whom had apicocaval juxtaposition. The patients were aged 19 and 16 months, respectively, and both underwent a combination of atrial and arterial switch. These are the first two reported cases of successful completion of this type of operation in Taiwan. Our review of previously reported cases suggested that no significant difference exists in the outcome of patients with this condition who undergo either arterial switch or Rastelli-type repair plus atrial redirection. However, reported patients who underwent anatomic repair had lower early mortality, late mortality, and incidence of complete heart block than those who underwent conventional repair. The present two cases and our review of the literature suggest that, among patients with apicocaval juxtaposition, 1) Mustard operation is optimal for patients with small atrial volume; 2) one-and-one-half ventricular repair may be helpful to the outcome, especially when treatment is combined with Rastelli-type repair; and 3) excellent access to the ventricular septal defect through the tricuspid valve is afforded via a left atriotomy. From the present two cases and our review of the literature, we conclude that anatomic repair is superior to conventional repair of CCTGA in terms of protection against dysfunction and failure of the anatomic right ventricle, tricuspid valve, and conduction system. Long-term follow-up is mandatory.