Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects

This report describes the dysmorphic features and frequency of 22q11.2 deletion (del22q11) in 30 Turkish patients with conotruncal heart defects (CTHDs). Fluorescence in situ hybridization (FISH) analysis revealed deletions in the 22q11.2 region in nine (30%) individuals. The CTHDs in this group were tetralogy of Fallot (four cases), double-outlet right ventricle (DORV) (two cases), transposition of great arteries (two cases), and ventricular septal defect (VSD) associated with other CTHDs (one case). The frequency of del22q11 in the study group was relatively high because many of the patients with dysmorphic findings also had cardiac anomalies involving the pulmonary artery, ductus arteriosus, or the aortic arch and its main branches. Twenty of the 30 patients exhibited several dysmorphic findings. Two of the nine patients with del22q11 exhibited no apparent dysmorphic features other than sacral dimple. Interestingly, one of the patients with del22q11 had a phenotypic appearance similar to that seen in oculo-auriculo-vertebral spectrum (OAVS). This individual had left microtia, atresia of the external meatus, mandibular asymmetry, and peripheral facial nerve paralysis. His mental development was normal and there were no abnormalities on ophthalmological examination. The CTHDs in this patient were situs inversus dextrocardia, DORV, pulmonary stenosis, and VSD. Radiographs of this patient showed platybasia, complete fusion of C2-C3, and posterior fusion of the T1-T2 vertebrae. This particular case indicates that the phenotypic features of del22q11 and OAVS may overlap.     

Adjunctive olanzapine treatment in bipolar adolescents responding insufficiently to mood stabilizers

This report was aimed to evaluate the efficacy of olanzapine treatment as an adjunct therapy to mood stabilizers in the treatment of four adolescents responding insufficiently to mood stabilizers. All patients were diagnosed with bipolar I disorder according to DSM IV criteria. YMRS (Young mania rating scale) and CGI (Clinical global impression, improvement and therapeutic effectiveness scales) were used to evaluate overall response of the episode to the drugs. All patients with no adequate response to mood stabilizers did respond to adjunctive olanzapine treatment (10-30 mg/per day). It has been suggested that antipsychotics may be useful as an adjunct to mood stabilisers in bipolar disorder. However, further research is warranted regarding the use of atypical antipsychotics in children and adolescents.     

Morphometric comparison of the human corpus callosum in deaf and hearing subjects: an MRI study

Auditory cortices are interconnected to each other by fibers passing through the corpus callosum (CC). In totally deaf persons no auditory impulses are conveyed to the auditory cortices, hence the auditory pathways become nonfunctional. It was reported that there has been cross-modal plasticity between auditory, visual, and somatosensory cortices. In this study, our aim was to make a comparison in the CC morphometry in hearing subjects and in a selected group in which the auditory system was deprived before the age of 2. 18 deaf and 18 hearing male, handedness matched volunteers, ages varying between 28 and 56 years old were examined. Audiometrical tests were applied to both groups and then T1-weighted midsagittal MR images were obtained. Certain dimensions and areas were measured on these images. There were no statistically significant difference between deaf and hearing subjects, either when dimensions and areas were analyzed by multivariate analysis of variance or when areas were analyzed by univariate analysis of variance. Absence of any significant morphometric difference in the CC of deaf subjects could be thought as an evidence of reflection of functional cortical plasticity.     

Radiographic and pathological stages of the changes at the bone-cement interface: an in-vivo experimental study

Introduction  Chemical and physical effects of cementation cause radiographic and histological changes at bone-cement interface. These changes can be of interest in the assessment of the residual lesions and subsequent recurrences after local resection and cementation of local aggressive tumours. Aim  The aim of the study was to evaluate the evolution and determine the stages of the changes that occur at the bone-cement interface after cementation of cavitary lesions. Material and methods  We operated on 16 hind legs of 8 sheep (Ovies Aries) under general anaesthesia (Xylasin HCl, Ketamin HCl and Forane). A bone cavity of 12 cm³ was produced by curettage of the distal femoral condyle and was filled with cement. Control radiographs were taken at 2 days; 3, 6 and 12 weeks, and again at 6 months. One sheep each time was killed after second day and sixth month and two sheep each time after the third, sixth and 12th week and the specimens underwent pathological examination. Results  After the first 3 weeks, a reactive fibrous membrane was detected on pathological examinations. This membrane consisted of granulation tissue, necrotic bone and bone marrow, which were replaced gradually by fibrous tissue. The radiographic revelation of this fibrous membrane was a radiolucent zone of 0.5–1.5 mm at 3 weeks. A Sclerotic rim appeared around this radiolucent zone at 6 weeks. With new bone formation the fibrous membrane disappeared at 3 months. This was seen on radiographs as the replacement of the radiolucent zone by a sclerotic ring of 0.5–2 mm. This sclerotic ring disappeared at 6 months, when a diffuse sclerosis and cortical bone thickening was detected on radiographs. Discussion  According to our findings we suggest to consider the pathological processes at the bone-cement interface in 3 phases: (1) Reactive phase (first 3 weeks); (2) Resorption phase (3–6 weeks), and (3) Formation phase (6 weeks to 6 months). We have distinguished five different radiographic stages: Stage 1—Early stage with no apparent zone (first 3 weeks); Stage 2—Radiolucent zone (3–6 weeks); Stage 3—Radiolucent zone with a sclerotic rime (6 weeks to 3 months); Stage 4—sclerotic ring (after 3 months) and Stage 5—Diffuse cortical thickening (after 6 months). Determining the phases of tissue reaction after cementation and its radiographic revelation will ease the diagnosis of residual lesions and subsequent recurrences after local resection and cementation of local aggressive tumors.     

Four new cases of congenital secondary hypothyroidism due to a splice site mutation in the thyrotropin-beta gene: phenotypic variability and founder effect

Isolated TSH deficiency is a rare cause of congenital hypothyroidism. We here report four children from two consanguineous Turkish families with isolated TSH deficiency. Affected children who were screened at newborn age had an unremarkable TSH result and a low serum TSH level at diagnosis. Age at diagnosis and clinical phenotype were variable. All affected children carried an identical homozygous splice site mutation (IVS2 + 5 G--> A) in the TSHbeta gene. This mutation leads to skipping of exon 2 and a loss of the translational start codon without ability to produce a TSH-like protein. However, using specific monoclonal antibodies, we detected a very low concentration of authentic, heterodimeric TSH in serum, indicating the production of a small amount of correctly spliced TSH mRNA. By genotyping all family members with polymorphic markers at the TSHbeta locus, we show that the mutation arose on a common ancestral haplotype in three unrelated Turkish families indicating a founder mutation in the Turkish population. These results suggest that this TSHbeta mutation is among the more common TSHbeta gene mutations and stress the need for a biochemical and molecular genetic workup in children with symptoms suggestive of congenital hypothyroidism, even when the neonatal TSH screening is normal.     

A rare cause of hydrops fetalis in two Gaucher disease type 2 patients with a novel mutation

Metabolic Brain Disease - Gaucher disease type 2 is the most progressive and the rarest form of Gaucher disease, defined as the acute neuronopathic type. We presented two GD2 patients who died...