Echocardiographic screening of purebred cats: an overview from 2002 to 2005

During the last 3 years, a total of 144 cats underwent echocardiographic screening at two investigational clinics before being admitted for breeding. The number of cats presented for that purpose has constantly increased. 8.3% of cats were diagnosed as having hypertrophic cardiomyopathy and 6.9% were diagnosed as suspicious. Male cats were more affected than females (9.4% vs 7.7%). In 4.2 of all presented cats, a congenital cardiac malformation was recognised, most often tricuspid valve dysplasia.

Characterization of white matter alterations in phenylketonuria by magnetic resonance relaxometry and diffusion tensor imaging

A multimodal MR study including relaxometry, diffusion tensor imaging (DTI), and MR spectroscopy was performed on patients with classical phenylketonuria (PKU) and matched controls, to improve our understanding of white matter (WM) lesions. Relaxometry yields information on myelin loss or malformation and may substantiate results from DTI attributed to myelin changes. Relaxometry was used to determine four brain compartments in normal-appearing brain tissue (NABT) and in lesions: water in myelin bilayers (myelin water, MW), water in gray matter (GM), water in WM, and water with long relaxation times (cerebrospinal fluid [CSF]-like signals). DTI yielded apparent diffusion coefficients (ADCs) and fractional anisotropies. MW and WM content were reduced in NABT and in lesions of PKU patients, while CSF-like signals were significantly increased. ADC values were reduced in PKU lesions, but also in the corpus callosum. Diffusion anisotropy was reduced in lesions because of a stronger decrease in the longitudinal than in the transverse diffusion. WM content and CSF-like components in lesions correlated with anisotropy and ADC. ADC values in lesions and in the corpus callosum correlated negatively with blood and brain phenylalanine (Phe) concentrations. Intramyelinic edema combined with vacuolization is a likely cause of the WM alterations. Correlations between diffusivity and Phe concentrations confirm vulnerability of WM to high Phe concentrations.

Neonatological and pulmonological management of bilateral pulmonary sequestration in a neonate

BACKGROUND: Bronchopulmonary sequestration is a lung malformation characterized by nonfunctioning lung tissue without primary communication with the tracheobronchial tree. Intrauterine complications such as mediastinal shift, pleural effusion or fetal hydrothorax can be present. We present the case of a newborn with bilateral intralobar pulmonary sequestration. METHODS: Prenatal ultrasonography in a primigravida at 20 weeks of gestation revealed echogenic masses in the right fetal hemithorax with mediastinal shift towards the left side. Serial ultrasound confirmed persistence of the lesion with otherwise appropriate fetal development. Delivery was uneventful and physical examination revealed an isolated intermittent tachypnea. Chest CT scan and CT angiography showed a bilateral intrathoracic lesion with arterial supply from the aorta. Baby lung function testing suggested possible multiple functional compartments. RESULTS: Right and left thoracotomy was performed at the age of 7 months. A bilateral intralobar sequestration with vascularisation from the aorta was resected. Pathological and histological examination of the resected tissue confirmed the surgical diagnosis. At the age of 24 months, the child was doing well without pulmonary complications. CONCLUSIONS: Bilateral pulmonary sequestration requires intensive prenatal and postnatal surveillance. Though given the fact of a bilateral pulmonary sequestration, postnatal outcome showed similar favourable characteristics to an unilateral presentation. Baby lung function testing could provide additional information for optimal postnatal management and timing of surgical intervention.

Epidemiological survey of 214 families with bladder exstrophy-epispadias complex

PURPOSE: We sought to identify causative nongenetic and genetic risk factors for the bladder exstrophy-epispadias complex. MATERIALS AND METHODS: A total of 237 families with the bladder exstrophy-epispadias complex were invited to participate in the study, and information was obtained from 214 families, mainly from European countries. RESULTS: Two families showed familial occurrence. Male predominance was found among all subgroups comprising epispadias, classic bladder exstrophy and cloacal exstrophy, with male-to-female ratios of 1.4:1, 2.8:1 and 2.0:1, respectively (p = 0.001). No association with parental age, maternal reproductive history or periconceptional maternal exposure to alcohol, drugs, chemical noxae, radiation or infections was found. However, periconceptional maternal exposure to smoking was significantly more common in patients with cloacal exstrophy than in the combined group of patients with epispadias/classic bladder exstrophy (p = 0.009). Only 16.8% of mothers followed the current recommendations of periconceptional folic acid supplementation, and 17.6% had started supplementation before 10 weeks of gestation. Interestingly, in the latter group mothers of patients with cloacal exstrophy were more compliant with folic acid supplementation than were mothers of the combined group of patients with epispadias/classic bladder exstrophy (p = 0.037). Furthermore, mothers of children with cloacal exstrophy knew significantly more often prenatally that their child would have a congenital malformation than did mothers of children with epispadias/classic bladder exstrophy (p <0.0001). CONCLUSIONS: Our study corroborates the hypothesis that epispadias, classic bladder exstrophy and cloacal exstrophy are causally related, representing a spectrum of the same developmental defect, with a small risk of recurrence within families. Embryonic exposure to maternal smoking appears to enforce the severity, whereas periconceptional folic acid supplementation does not seem to alleviate it. There is a disproportional prenatal ultrasound detection rate between severe and mild phenotypes, possibly due to the neglect of imaging of full bladders with a focus on neural tube defects.

Cost-effective patient-specific intraoperative molded cranioplasty

Intraoperative molding of polymethyl-methacrylate into complex three-dimensional shapes with correct thickness is often a time-consuming process and may lead to unsatisfying cosmetical results. This article describes an intraoperative technique to assemble a polymethyl-methacrylate implant as a replica of the patient's bone flap. This approach provides a fast and inexpensive alternative technique with good cosmetic outcome. The technique is feasible and can be applied in early and delayed cranioplasty procedures. In selected patients, immediate single-stage reconstruction avoids a second operation.

Primary reconstruction of open depressed skull fractures with titanium mesh

Open skull fractures have been traditionally managed in 2 stages: urgent craniotomy and elevation of the fracture with removal of contaminated bone, debridement, and delayed cranioplasty. Primary, single-stage repair of these injures has been said to entail risks such as infections. Recent experience, however, disproved these concerns.We used a primary single-stage reconstruction for patients presenting with open depressed skull fractures. All patients received antibiotic prophylaxis. The patients underwent elevation of the compound fracture and craniotomy if necessary. Debridement was performed, followed by skull reconstruction using a 0.6-mm titanium mesh.We present 5 consecutive male patients (age, 32.2 +/- 15.6 years) who underwent primary reconstruction of open depressed skull fractures. Clinical and radiologic follow-up was performed 2 months after surgery. The duration of the surgery was 2 +/- 1.6 hours. The size of the implanted mesh was 13 +/- 13.1 cm. No infection was detected in our series, with a follow-up period of 22 +/- 6.5 months (range, 16-29 months). The cosmetic result was defined in 4 patients as "excellent" and in 1 patient as "good."Primary reconstruction of open skull fractures with titanium mesh is feasible, safe, and cosmetically preferable than the conventional staged approach. The introduction into clinical practice can be warranted.

Physical long-term health problems and mental comorbidity: evidence from Vietnam

OBJECTIVE: The mental health of children living in low-income countries remains a neglected research area despite the high burden of disease. This study is one of the first that examines the effects of long-term physical health problems on child mental health disorders in a low-income country and investigates whether this association is modified by the socio-economic status of the child's family. METHODS: Community-based cross-sectional survey of 975 eight-year-old children from 20 sites in Vietnam. Long-term physical health problems were measured by a caregiver report and included conditions such as anaemia, congenital malformation, physical disability and skin problems. Child mental disorders were assessed using the strengths and difficulties questionnaire (SDQ). Generalised estimating equations models were fitted to explore the association between long-term physical health problems and child mental disorders. RESULTS: Vietnamese children who suffer from long-term physical health problems have odds 2:1 times greater than children without long-term physical health problems of having a mental disorder (95% CI 1.2 to 3.6, p = 0.006). No significant interaction with socio-economic status was found. CONCLUSIONS: This study showed a high burden of mental disorders among physically ill children, re-enforcing the idea that there is "no health without mental health". While this association needs to be explored longitudinally, children with long-term health problems may be a visible group for targeted mental-health interventions.

Quality of life of grown-up congenital heart disease patients after congenital cardiac surgery

BACKGROUND: Due to better early and long-term outcome, the increasing population of grown-ups with congenital heart disease (GUCH) brings up unexpected quality of life (QoL) issues. The cardiac lesion by itself is not always the major problem for these patients, since issues pertaining to QoL and psychosocial aspects often predominate. This study analyses the QoL of GUCH patients after cardiac surgery and the possible impact of medical and psychosocial complications. PATIENTS AND METHODS: A questionnaire package containing the SF-36 health survey (health related QoL), the HADS test (anxiety/depression aspects) and an additional disease specific questionnaire was sent to 345 patients (mean 26+/-11 years) operated for isolated transposition of the great arteries (TGA), tetralogy of Fallot (TOF), and ventricular septal defect (VSD). The scores were compared with age- and gender-matched standard population data and in relation to the underlying congenital heart disease (CHD). RESULTS: In all SF-36 and HADS health dimensions the GUCH patients showed excellent scores (116+/-20), which are comparable to the standard population (100+/-15), regardless of the initial CHD (p=0.12). Eighty-two percent of the patients were found to be in NYHA class I and 83% patients declared that they do not consider their QoL to be limited by their malformation. Complications like reoperations (p=0.21) and arrhythmias (p=0.10) do not show significant impact on the QoL. The additional questionnaire revealed that 76% of adult patients have a fulltime job, 18% receive a full or partial disability pension, 21% reported problems with insurances, most of them regarding health insurances (67%), and 4.4% of adult patients declared to have renounced the idea of having children due to their cardiac malformation. CONCLUSION: QoL in GUCH patients following surgical repair of isolated TOF, TGA and VSD is excellent and comparable to standard population, this without significant difference between the diagnosis groups. However, these patients are exposed to a high rate of complications and special psychosocial problems, which are not assessed by standardized questionnaires, such as the SF-36 and HADS. These findings highlight the great importance for a multidisciplinary and specialized follow-up for an adequate management of these complex patients.

Reference photographs for nasolabial appearance rating in unilateral cleft lip and palate

A popular method for nasolabial rating in unilateral cleft lip and palate (UCLP) is the Asher-McDade system consisting of a 5-point ordinal scale assessing nasal form, nasal symmetry, nasal profile, and vermilion border. The aim of the current study was to identify reference photographs illustrating this scale to facilitate its use.Four observers assessed nasolabial appearance on frontal and profile photographs of the nasolabial area of 42 children of Caucasian origin with a repaired UCLP at age 9 years. Cronbachs alpha, based on the individual scores of the 4 observers, ranged from 0.73 to 0.82 for the 4 nasolabial ratings, indicating a good reliability. The reliability of the overall score (mean of the 4 component scores) was also high (Cronbachs alpha, 0.83). Both for the nasolabial component ratings and for the overall score, duplicate measurement errors were small. The reliability for the mean of the 4 observers' scores was good, Spearman rank correlation coefficients ranging from 0.56 to 0.96.Subsequently, photographs were selected that showed the highest agreement among observers. For each of the 4 components (eg, nasal form, nasal deviation, nasal profile, and shape of the vermilion border), 5 photographs were selected to illustrate the whole range of the scale (score, 1-5), resulting in the selection of 20 pictures.It was concluded that nasolabial appearance rating can be performed reliably using a panel of judges and averaging the scores of all observers. Reference photographs, as developed from this study, may facilitate the rating task.

[Dens invaginatus. Review of the literature and diagnostic and therapeutic guidelines]

Dens invaginatus is a clinically relevant malformation of teeth resulting from an infolding of enamel and dentine into the dental structure during tooth formation, hence the former denomination "dens in dente". The dens invaginatus shows multiple morphological variations of crown and root formation. This frequently leads to caries, pulpal and periodontal involvement with necrosis and loss of attachment. Therefore, early diagnosis and prevention are of utmost importance. Due to the complexity of the malformation, treatment options in former days were limited. This article presents a profound review of the literature regarding etiology, epidemiology and histology. It discusses clinical appearance and diagnosis and it provides guidelines for decision-making and treatment of invaginated teeth.

Two cases of trisomy 16 mosaicism ascertained postnatally

Postnatally ascertained trisomy 16 mosaicism is a rare diagnosis, with only three reported cases to date with no defined clinical phenotype. Trisomy 16 mosaicism diagnosed prenatally is common and associated with variable pregnancy outcomes ranging from stillbirth with multiple congenital abnormalities to an apparently normal newborn, making the genetic counseling very challenging. It is not clear whether uniparental disomy (UPD) 16 contributes to the phenotype, although it has been suggested that maternal UPD 16 affects the rate of intra-uterine growth retardation (IUGR) and congenital anomalies. We report on two further cases of trisomy 16 mosaicism confined to fibroblasts diagnosed postnatally. Patient 1 presented at birth with severe hypospadias, unilateral postaxial polydactyly, and different hair color with midline demarcation. His growth and development were normal at 11 months of age. Patient 2 was born with IUGR, significant craniofacial and body asymmetry, asymmetric skin hyperpigmentation, unilateral hearing loss, scoliosis, VSD, unexplained dilated cardiomyopathy, feeding difficulties, failure to thrive, and recurrent respiratory tract infections. She died at 7 months of age from respiratory failure. These two further cases of postnatally diagnosed trisomy 16 mosaicism highlight the variability of clinical features and outcome in this diagnosis. While Patient 2 presented with typical features of chromosomal mosaicism, Patient 1 had mild and transient features with essentially normal outcome, suggesting that trisomy 16 mosaicism may be under-diagnosed.

The umbilical cord in Cantrell: Pentalogy or Hexalogy?

Objective: Pentalogy of Cantrell (PC) is a rare congenital defect associated with five midline anomalies. The type of cardiac malformation and the size of the abdominal wall defect is often responsible for the high mortality. Of interest, the embryonic period in which PC develops is similar to that of the umbilical cord’s (UC) formation. The aim of the following study was to investigate the relationship between UC anomalies and PC. Methods: Charts of four cases with PC from 2002–08 were retrospectively reviewed for associated UC anomalies. UC anomalies were defined as single umbilical artery (SUA), short cord (during 1st trimester less than CRL or less than 30cm at term) or atypical UC coiling pattern. Results: We identified four cases: 3 singletons and one monochorionic diamniotic twin pregnancy with TRAP sequence. All cases showed a normal karyotype. All but one demonstrated the classical pulsatile omphalocele with ectopia cordis and all others anomalies of PC. One case was characterized by a major cranial omphalocele without ectopia cordis and no UC anomaly. This fetus was delivered by Cesarean at term and successfully operated on d1. In all other cases the parents requested ToP. Among the three cases with ectopia cordis, two had a short UC with SUA and one a short three-vessel cord; all these three UC were markedly uncoiled. Conclusions: Our data suggest a strong association between Cantrell and the development of the UC, in particular in cases with ectopia cordis. One might speculate that hemodynamic alterations of the feto-placental blood flow because of the cardiac malformation or structural changes at the umbilical ring (omphalocele) influence the development of the UC. More observations are needed to decide if Cantrell is a ‘‘hexalogy’’ instead of pentalogy.

Chronic intervertebral disk herniation associated with fused vertebrae treated by vertebral lateral corpectomy in a cat

A 10-year-old Domestic Shorthair cat was admitted for chronic ambulatory paraparesis and a spinal malformation. The clinical examination revealed paraparesis accentuated on the left side. Thoracolumbar radiographs revealed a spinal malformation with a narrowed intervertebral space between L1 and L2, and a dorsal fusion at the level of L2-L3 with a common dorsal process. Magnetic resonance imaging (MRI) revealed an intervertebral disk herniation with a ventral compression of the spinal cord at the level of L1/2. A standard vertebral lateral corpectomy with a foraminotomy was performed with a good outcome.

Cochrane and non-Cochrane systematic reviews in leading orthodontic journals: a quality paradigm?

The aims of this study were to assess and compare the methodological quality of Cochrane and non-Cochrane systematic reviews (SRs) published in leading orthodontic journals and the Cochrane Database of Systematic Reviews (CDSR) using AMSTAR and to compare the prevalence of meta-analysis in both review types. A literature search was undertaken to identify SRs that consisted of hand-searching five major orthodontic journals [American Journal of Orthodontics and Dentofacial Orthopedics, Angle Orthodontist, European Journal of Orthodontics, Journal of Orthodontics and Orthodontics and Craniofacial Research (February 2002 to July 2011)] and the Cochrane Database of Systematic Reviews from January 2000 to July 2011. Methodological quality of the included reviews was gauged using the AMSTAR tool involving 11 key methodological criteria with a score of 0 or 1 given for each criterion. A cumulative grade was given for the paper overall (0-11); an overall score of 4 or less represented poor methodological quality, 5-8 was considered fair and 9 or greater was deemed to be good. In total, 109 SRs were identified in the five major journals and on the CDSR. Of these, 26 (23.9%) were in the CDSR. The mean overall AMSTAR score was 6.2 with 21.1% of reviews satisfying 9 or more of the 11 criteria; a similar prevalence of poor reviews (22%) was also noted. Multiple linear regression indicated that reviews published in the CDSR (P < 0.01); and involving meta-analysis (β = 0.50, 95% confidence interval 0.72, 2.07, P < 0.001) showed greater concordance with AMSTAR.

Tooth eruption: altered gene expression in the dental follicle of patients with cleidocranial dysplasia

OBJECTIVES The dental follicle plays an important role in tooth eruption by providing key regulators of osteogenesis and bone resorption. Patients with cleidocranial dysplasia (CCD) exhibit delayed tooth eruption in combination with increased bone density in the maxilla and mandible, suggesting disturbances in bone remodeling. The aim of this study was to determine the expression of genes relevant for tooth eruption and bone remodeling in the dental follicles of patients with CCD and normal subjects. MATERIAL AND METHODS Thirteen dental follicles were isolated from five unrelated patients with CCD, and fourteen dental follicles were obtained from 10 healthy individuals. All teeth were in the intraosseous phase of eruption. The expression of RANK, RANKL, OPG, and CSF-1 was determined by quantitative RT-PCR. RESULTS In patients with CCD, the mRNA levels of RANK, OPG, and CSF-1 were significantly elevated compared with the control group. Accordingly, the ratios of RANKL/OPG and RANKL/RANK mRNAs were significantly decreased in patients with CCD. CONCLUSION The observed alterations in the expression and ratios of the aforementioned factors in the dental follicle of CCD individuals suggest a disturbed paracrine signaling for bone remodeling that could be responsible for the impaired tooth eruption seen in these patients.