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Other Abnormalities (other + abnormality)
Selected AbstractsForeskin development before adolescence in 2149 schoolboysINTERNATIONAL JOURNAL OF UROLOGY, Issue 7 2006TENG-FU HSIEH Background:, We examined the external genitalia of 2149 elementary schoolboys in the suburban area of Taichung in Taiwan for an understanding of foreskin development before adolescence. Methods:, The study's subjects comprised 692 first-grade boys, 725 fourth-grade boys, and 732 seventh-grade boys. The foreskin's condition was classified as: type I (normal prepuce), type II (adhesion of prepuce), type III (partial phimosis), type IV (phimosis) and type V (circumcised foreskin). Other abnormalities of the genitalia also were recorded. All of the examinations were performed by the same urologist. Results:, The incidence of type I foreskin was 8.2% in first-grade boys, 21.0% in fourth-grade boys, and 58.1% in seventh-grade boys. The incidence of type IV foreskin was 17.1% in first-grade boys, 9.7% in fourth-grade boys, and 1.2% in seventh-grade boys. Only one boy had balanoposthitis. Other abnormalities included inguinal hernia (n = 2), hydrocele (n = 12), cryptorchitism (n = 8), varicocele (n = 22), and subcoronal-type hypospadia (n = 1). Conclusions:, Physiological phimosis declines with age. Most boys with phimosis in this study did not require treatment. [source] Interobserver reliability of visual interpretation of electroencephalograms in children with newly diagnosed seizuresDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 5 2006Hans Stroink MD The reliability of visual interpretation of electroencephalograms (EEG) is of great importance in assessing the value of this diagnostic tool. We prospectively obtained 50 standard EEGs and 61 EEGs after partial sleep deprivation from 93 children (56 males, 37 females) with a mean age of 6 years 10 months (SE 5mo; range 4mo,15y 7mo) with one or more newly diagnosed, unprovoked seizures. Two clinical neurophysiologists independently classified the background pattern and the presence of epileptiform discharges or focal non-epileptiform abnormalities of each EEG. The agreement was substantial for the interpretation of the EEG as normal or abnormal (kappa 0.66), almost perfect for the presence of epileptiform discharges (kappa 0.83), substantial for the occurrence of an abnormal background pattern (kappa 0.73), and moderate for the presence of focal non-epileptiform discharges (kappa 0.54). In conclusion, the reliability of the visual interpretation of EEGs in children is almost perfect as regards the presence of epileptiform abnormalities, and moderate to substantial for the presence of other abnormalities. [source] Sphincter of Oddi dysfunction: role of sphincterotomyDIGESTIVE ENDOSCOPY, Issue 4 2001Choichi Sugawa Sphincter of Oddi dysfunction (SOD) is one of the causes of post-cholecystectomy syndrome and biliary pain and is a challenge from both the diagnostic and therapeutic points of view. Sphincter of Oddi dysfunction is typically diagnosed months to years after cholecystectomy. Continued biliary type pain after cholecystectomy may occur in as many as 10,20% of patients. Ten percent or more of these patients may eventually be shown to have SOD. The syndrome is often associated with a variety of other gastrointestinal disorders thought to be caused by dysmotility. According to the Milwaukee classification, patients with biliary pain can be divided into three types. Type I patients show all the objective signs suggestive of a disturbed bile outflow (i.e. elevated liver function tests, dilated common bile duct and delayed contrast drainage during endoscopic retrograde cholangiopancreatography). Type II patients have biliary type pain along with one or two of the criteria from type I. Type III patients have biliary pain only, with no other abnormalities. The present paper will focus primarily on SOD syn-drome, papillary stenosis and the diagnostic and therapeutic approaches, in particular endoscopic sphincterotomy. [source] Echocardiographic Study of Cardiac Morphological and Functional Changes before and after Parturition in Pregnancy-Induced HypertensionECHOCARDIOGRAPHY, Issue 3 2006Lijun Yuan M.D. Purpose: To investigate the cardiac morphological and functional changes by echocardiography, before and after parturition in patients with pregnancy-induced hypertension (PIH). Methods: The parameters related to cardiac morphology and left ventricular diastolic and systolic functions were compared before and after parturition in 32 patients with PIH and 24 normal pregnant (NP) women. Results: Compared with NP women, the PIH patients had greater diameters of left atrium and left ventricle in end-diastole (LAd: 38.9 ± 4.5 vs 34.6 ± 4.4 mm, P = 0.0015; LVEDd: 51.2 ± 5.8 vs 47.1 ± 4.2 mm, P = 0.036) and lower E/A (1.2 ± 0.2 vs 1.4 ± 0.2, P = 0.009) and greater fractional shortening (FS) (39.8 ± 6.5% vs 37.1 ± 6.9%, P = 0.042) and ejection fraction (EF) (0.72 ± 0.07 vs 0.66 ± 0.08, P = 0.040). Pericardial effusion (PE) occurred in 31.3% and 16.7% of PIH and NP, respectively. The LAd and LVEDd in 70% and 47% patients with PIH resolved and PE disappeared in 80% of PIH patients postpartum. E/A ratio in PIH significantly increased after parturition, while the two patients with cardiac systolic dysfunction did not improve very much. Conclusions: Compared with normal pregnancy, the most significant cardiac morphological changes in PIH are the greater diameters of left atrium and left ventricle, thicker inter-ventricular septum (IVS), more PE, impaired left ventricular diastolic function, and increased systolic function. The PE could disappear in PIH and about half of other abnormalities could recover to be the level of normal pregnancy postpartum within 2 months. [source] Conventional cytogenetics in myelofibrosis: literature review and discussionEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 5 2009Kebede Hussein Abstract The clinical phenotype of myelofibrosis (MF) is recognized either de novo (primary) or in the setting of polycythemia vera (post-PV) or essential thrombocythemia (post-ET). Approximately one-third of patients with primary MF (PMF) present with cytogenetic abnormalities; the most frequent are del(20q), del(13q), trisomy 8 and 9, and abnormalities of chromosome 1 including duplication 1q. Other less frequent lesions include ,7/del(7q), del(5q), del(12p), +21 and der(6)t(1;6)(q21;p21.3). In general, cytogenetic abnormalities are qualitatively similar among PMF, post-ET MF and post-PV MF although their individual frequencies may differ. Based on prognostic effect, cytogenetic findings in MF are classified as either ,favorable' or ,unfavorable'. The former include normal karyotype or isolated del(20q) or del(13q) and the latter all other abnormalities. Unfavorable cytogenetic profile in both PMF and post-PV/ET MF confers an independent adverse effect on survival; it is also associated with higher JAK2V617F mutational frequency. In addition to their prognostic value, cytogenetic studies in MF ensure diagnostic exclusion of other myeloid neoplasms that are sometimes associated with bone marrow fibrosis (e.g. BCR-ABL1 -positive or PDGFRB -rearranged) and also assist in specific treatment selection (e.g. lenalidomide therapy is active in MF associated with del(5q). [source] Oxidative stress as a multiple effector in Fanconi anaemia clinical phenotypeEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 2 2005Giovanni Pagano Abstract:, Fanconi anaemia (FA) is a genetic disease characterised by bone marrow failure with excess risk of myelogenous leukaemia and solid tumours. A widely accepted notion in FA research invokes a deficiency of response to DNA damage as the fundamental basis of the ,crosslinker sensitivity' observed in this disorder. However, such an isolated defect cannot readily account for the full cellular and clinical phenotype, which includes a number of other abnormalities, such as malformations, endocrinopathies, and typical skin spots. An extensive body of evidence pointing toward an involvement of oxidative stress in the FA phenotype includes the following: (i) In vitro and ex vivo abnormalities in a number of redox status endpoints; (ii) the functions of several FA proteins in protecting cells from oxidative stress; (iii) redox-related toxicity mechanisms of the xenobiotics evoking excess toxicity in FA cells. The clinical features in FA and the in vivo abnormalities of redox parameters are here reconsidered in view of the pleiotropic clinical phenotype and known biochemical and molecular links to an in vivo prooxidant state, which causes oxidative damage to biomolecules, resulting in an excessive number of acquired abnormalities that may overwhelm the cellular repair capacity rather than a primary deficiency in DNA repair. FA may thus represent a unique model disease in testing the integration between the acquisition of macromolecular damage as a result of oxidative stress and the ability of the mammalian cell to respond effectively to such damage. [source] Joubert syndrome: review and report of seven new casesEUROPEAN JOURNAL OF NEUROLOGY, Issue 8 2004S. Kumandas Joubert syndrome (JS) is an autosomal-recessive disorder, characterized by hypotonia, ataxia, global developmental delay and molar tooth sign on magnetic resonance imaging. A variety of other abnormalities have been described in children with JS, including abnormal breathing, abnormal eye movements, a characteristic facial appearance, delayed language, hypersensitivity to noise, autism, ocular and oculomotor abnormalities, meningoencephaloceles, microcephaly, low-set ears, polydactyly, retinal dysplasia, kidney abnormalities (renal cysts), soft tissue tumor of the tongue, liver disease and duodenal atresia. Even within siblings the phenotype may vary, making it difficult to establish the exact clinical diagnostic boundaries of JS. We review the clinical characteristics of seven cases that fulfill the criteria of JS. [source] Linear and whorled nevoid hypermelanosis associated with developmental delay and generalized convulsionsINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 2 2004Ahmad A. Alrobaee MD A 2-year-old Saudi boy was seen in our dermatology clinic with symmetrical, brown, linear macules over the legs, trunk, and arms (Figs 1,3). He was a product of a full-term vaginal delivery following an uneventful first pregnancy in a 22-year-old mother. The birth weight was 2.3 kg. The hyperpigmented macules followed the lines of Blaschko and were noticed a few months after birth; they had enlarged with body growth until the age of 18 months. There was no family history of a similar condition and the boy's parents were unrelated. No blistering or inflammatory changes preceded the hyperpigmentation. The palms, soles, nails, scalp, mucous membranes, and teeth were normal. In addition to the hyperpigmented macules, the patient started to have generalized convulsions at the age of 2 months. Figure 1. Linear hyperpigmented macules following the lines of Blaschko Figure 2. Close up view of the hyperpigmented macules Figure 3. Trunk: Hyperpigmented macules in whorled distribution Physical examination revealed delayed developmental milestones, microphthalmia, depressed nose, and high arched palate with no other abnormalities. Blood tests were normal. Magnetic resonance imaging of the brain showed changes suggestive of a demyelinating process at the parieto-occipital white matter. Echocardiography revealed an atrial septal defect. Electroretinography (ERG), visual evoked potentials (VEP), and auditory evoked potentials (AEP) were normal. Electroencephalogram (EEG) showed multifocal epileptic discharge in the posterior region. A punch skin biopsy taken from the hyperpigmented lesions showed an increase in the melanin content of the basal layer with no incontinence of pigment or melanophages in the dermis. [source] Performance of the XE-2100 leucocyte differentialINTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 5 2002G. Stamminger Summary The XE-2100Ô was evaluated in a multicentre study following a previously established protocol. In this paper, we demonstrate the results of analytical performance studies, including comparison of the leucocyte differential with the NCCLS H20-A method and evaluation of flagging sensitivity. Linearity of the leucocyte count over a wide clinical range, low imprecision in clinically important ranges and no measurable carry over were confirmed. For comparability studies, 4 × 200 cell microscopic differential leucocyte counts were correlated with the automated five-part-differential counts. No significant differences were detected in (1) a group without morphological abnormality and in (2) a leukopenic group. The sensitivity of flags for the detection of immature granulocytes and myeloid blasts was very good. Only few samples containing blast cells remained unrecognized but these would have been examined microscopically in any event because of other abnormalities indicated by the instrument. Atypical/abnormal lymphocytes/and lymphoblasts were detected very reliably when the total lymphocyte count and the flags were evaluated in combination. A similiar procedure is recommended for the detection of left shift. When the neutrophil count is elevated, the sensitivity of the left shift flag is improved. The absolute immature granulocyte (IG) count by the instrument correlates well with that of myeloid precursor cells by microscopy. [source] Congenital absence of the patella in an Anglo-Saxon skeletonINTERNATIONAL JOURNAL OF OSTEOARCHAEOLOGY, Issue 3 2003P. Patrick Abstract A skeleton of a young Anglo-Saxon woman aged about 25 years at the time of death is described. The distal femoral articulation was in two distinct parts separated by a deep groove in which the tendon of quadriceps femoris would have lain. The medial condyle of the femur was smaller than normal and there was no patellar surface on the anterior part of the articulation. The woman was of normal stature (1.53 ± 0.04 m) and no other abnormalities were found in the skeleton. It was considered that these findings were consistent with a diagnosis of congenital absence of the patella. This is the earliest recorded case of this condition. Copyright © 2003 John Wiley & Sons, Ltd. [source] Pigmentation development in hatchery-reared flatfishesJOURNAL OF FISH BIOLOGY, Issue 5 2000J. A. Bolker Malpigmentation is common in hatchery-reared flatfishes, decreasing the market value of whole fish, and increasing the risk of predation for juveniles released to enhance wild stocks. Pigmentation development in flatfishes occurs in two phases. First, during embryonic and larval stages pigment cells differentiate on both sides of the body. Second, at metamorphosis larval melanophores disappear, and adult melanophores differentiate on the ocular but not on the blind side. Malpigmentation seems to result from disruptions of the second phase, and may take the form of albinism on the ocular side or darkening of the blind side. Both types of aberration may be related to aspects of the hatchery environment such as lighting, substratum, and diet. Larval nutrition appears to be a key factor and enrichment of larval diets with fatty acids and Vitamin A can greatly reduce malpigmentation rates; however, levels suffcient to prevent pigmentation defects frequently cause other abnormalities. Two developmental explanations for albinism have been proposed. The first is that differentiation of ocular-side skin follows the normal blind-side pathway and adult melanophores therefore fail to develop on the ocular side. The second hypothesis suggests that dietary deficiencies inhibit retinal development and the resulting visual defects lead to failure of a hormonal signal required for melanophore differentiation. These hypotheses may well be complementary; as yet neither has been thoroughly tested. Definitive tests will require a combination of manipulative techniques such as tissue transplantation and cell culture with nutritional, behavioural and hormonal assays. Such integrative studies will further the understanding both of normal pigmentation development and of the environmental factors that contribute to high rates of albinism in hatchery-reared flatfish. [source] Magnetic Resonance Imaging in Patients Diagnosed With Papilledema: A Comparison of 6 Different High-Resolution T1- and T2(*)-Weighted 3-Dimensional and 2-Dimensional SequencesJOURNAL OF NEUROIMAGING, Issue 2 2002Johannes Seitz MD ABSTRACT Purpose. To evaluate visualization and signal characteristics of macroscopic changes in patients with ophthalmologically stated papilledema and to find a suitable high-resolution magnetic resonance imaging (MRI) protocol. Method. Nine consecutive patients with 12 ophthalmologically stated papilledemas underwent MRI of the head and orbits, which consisted of the following high-resolution sequences: 3-dimensional (3D), T2*-weighted (T2*w) constructive interference in steady-state sequence (CISS); 3D, T1-weighted (T1w) magnetization prepared-rapid gradient echo sequence (MP-RAGE) (with and without intravenous contrast medium); transverse 3D and 2-dimensional (2D) (2mm), T2-weighted (T2w) turbo spin echo (TSE); transverse 2D (2mm), contrast-enhanced T1w TSE with fat-suppression technique; and transverse 2D (5mm), T2w TSE. A quantitative and qualitative evaluation of the papilla, optic nerve, optic nerve sheath, optic chiasm, and the brain was performed. The 6 high-resolution sequences were compared. Results. The elevation of the optic disc into the optic globe in ophthalmologically stated papilledema was best visualized in T2w, 3D CISS sequence. The pathological contrast enhancement was best seen in T1w contrast-enhanced 2D TSE sequence with fat-suppression technique. The mean width of the optic nerve sheath directly behind the globe was 7.54 mm (± 1.05 mm) in the pathological eyes, compared to 5.52 mm (± 1.11 mm) in the normal eyes. In all patients, the cerebral indices calculated showed no signs of increased intracranial pressure or other abnormalities changing the volume of the brain or ventricles. The contrast of the orbital fat versus the optic nerve sheath, the optic nerve sheath versus the surrounding cerebrospinal fluid (CSF), the surrounding CSF versus the optic nerve, the optic chiasm versus the CSF, and the optic papilla versus the optic globe were best visualized in the 3D, T2*w CISS sequence. An enhancement of the swollen optic nerve head was best seen in all 12 cases in the T1w contrast-enhanced 2D TSE sequence with fat-suppression technique. Conclusion. An MRI protocol consisting of a 5-mm transverse T2w TSE sequence; a T2*w, 3D CISS sequence; a T1w, 3D MP-RAGE sequence with and without contrast medium; and a transverse T1w, (2-mm) 2D TSE sequence with fat-suppression technique with intravenous contrast medium is suitable to visualize the macroscopic changes in papilledema. In addition, this combination is an excellent technique for the examination of the orbits and the brain. [source] Accessory Tragus: Report of Two Cases and Review of the LiteraturePEDIATRIC DERMATOLOGY, Issue 5 2000Thomas Jansen M.D. In the vast majority of cases it is an isolated developmental defect not associated with other abnormalities. However, the remote possibility exists that it could be associated with other abnormalities of the first and second branchial arch. Accessory tragus is a consistent feature of the oculoauriculovertebral syndrome (Goldenhar syndrome). When correctly identified, surgical excision of accessory tragus is quite simple and rarely results in any complications. [source] Five Fanconi anemia patients with unusual organ pathologiesAMERICAN JOURNAL OF HEMATOLOGY, Issue 1 2004Selma Unal Abstract Fanconi anemia (FA) is a rare autosomal recessive disorder that presents with variable organ abnormalities, progressive cytopenia, and susceptibility to the development of several malignancies. Although some of the organ pathologies such as microcephaly, microphthalmia, skin dyspigmentation, urogenital system involvement, and radial ray skeletal abnormalities are relatively common, there are some other abnormalities that are rarely associated with the disease [Alter BP. In: Nathan DG, Oski FA, editors. Hematology of infancy and childhood. Philadelphia: Saunders; 2003. p 259,273]. In this paper, five cases of unrelated FA patients with unusual organ pathologies, including chronic obstructive lung disease, lipodystrophy, Sprengel's deformity, diaphragmatic hernia, and inflammatory linear verrucous epidermal nevus (ILVEN) are presented. Recognition of unusual pathologies associated with FA is important in order to improve our understanding of the relationship between the disease and presenting organ pathologies. Am. J. Hematol. 77:50,54, 2004. © 2004 Wiley-Liss, Inc. [source] The Drake Health Registry Study: Findings from fifteen years of continuous bladder cancer screeningAMERICAN JOURNAL OF INDUSTRIAL MEDICINE, Issue 2 2003Gary M. Marsh PhD Abstract Background The Drake Health Registry Study (DHRS) is an ongoing bladder cancer screening program initiated in 1986 due to workers' probable past exposure to the bladder carcinogen, beta-naphthylamine (BNA). Methods At periodic screening visits, a health survey is administered and three screening tests are applied to a urine sample, urinalysis (UA), papanicolaou (PAP), and quantitative fluorescence image analysis (QFIA). Positive screens are eligible for a free bladder cystoscopy with random biopsies. Results Forty of 51 persons eligible for diagnostic evaluation underwent cystoscopy. One person was diagnosed with carcinoma in situ, two with transitional cell papilloma, 14 with dysplasia, two of which developed transitional cell carcinoma; 26 had bladder abnormalities such as chronic inflammation, chronic cystitis, atypical changes, atypia, hyperplasia, or papillary clusters. Conclusions The DHRS continues to identify early stage bladder cancer and other abnormalities among workers exposed to BNA before 1981 and generates useful clinical, psycho-social, and epidemiologic data. Am. J. Ind. Med. 43: 142,148, 2003. © 2003 Wiley-Liss, Inc. [source] Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalancesPRENATAL DIAGNOSIS, Issue 10 2010S. Kjaergaard Abstract Objective The aim of the study was to retrospectively assess the relevance of using multiplex ligation-dependent probe amplification (MLPA) for detection of selected microdeletion syndromes (22q11, Prader,Willi/Angelman, Miller,Dieker, Smith,Magenis, 1p-, Williams), the reciprocal microduplication syndromes and imbalance at the subtelomere regions of chromosomes in a routine prenatal setting. Method A total of 530 prenatal samples were analysed by commercial MLPA kits (SALSA P064, P036 and P069) in addition to rapid aneuploidy testing and G-band karyotyping. Results Among the prenatal samples with a normal metaphase karyotype, nine submicroscopic imbalances were detected: seven 22q11 deletions (Velocardiofacial/DiGeorge syndrome), one 15q11deletion (Prader,Willi syndrome) and one terminal deletion of the short arm of chromosome 4 (Wolf,Hirschhorn syndrome). All imbalances were found in amniocentesis (AC) taken due to fetal structural malformation and/or other ultrasound scan (US) detected abnormality. The diagnostic yield was 4.1% in the subgroup with structural malformation and 1.6% in the subgroup with other US abnormality. Conclusion The data set substantiates that additional MLPA analyses for selected microdeletions and subtelomere imbalances are valuable in routine prenatal diagnostics, when a malformation(s) and/or other abnormalities are detected by US. In contrast, the additional MLPA analyses gave no diagnostic yield in case of increased nuchal translucency (NT). Copyright © 2010 John Wiley & Sons, Ltd. [source] Polymorphisms in vitamin D receptor, osteopontin, insulin-like growth factor 1 and insulin, and their associations with bone, egg and growth traits in a layer , broiler cross in chickensANIMAL GENETICS, Issue 3 2006A. K. Bennett Summary Bone strength traits in chickens are gaining importance due to economic losses and welfare concerns associated with bone fractures and other abnormalities. A chicken F2 resource population was generated from layer and broiler genetic lines, and traits relating to bone strength, egg production, egg quality and growth rate were measured in approximately 500 F2 hens. Four biological candidate genes (vitamin D receptor, VDR; insulin, INS; insulin-like growth factor 1, IGF1; and osteopontin, SPP1) were selected for investigation. Single nucleotide polymorphisms (SNPs) were identified for each candidate gene by comparing sequences between grandparent lines. Polymerase chain reaction restriction-fragment length polymorphism or SNaPshot assays were developed to genotype the F2 population and to evaluate associations between each SNP genotype and multiple phenotypes. Significant associations (P < 0.0125) were found between VDR and bone mineral content of the humerus at 35 weeks of age; between IGF1 and SPP1 and 5-week body weight; and between INS and 55-week body weight. [source] Third-trimester fetal MRI in isolated 10- to 12-mm ventriculomegaly: is it worth it?BJOG : AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, Issue 8 2006LJ Salomon Objective, The justification for magnetic resonance imaging (MRI) in isolated mild ventriculomegaly remains controversial. This study was undertaken to evaluate the contribution of third-trimester MRI in isolated 10- to 12-mm fetal ventriculomegaly. Design, Observational prospective cohort study. Setting, Universitary prenatal reference centre. Population, From February 2000 to May 2005, we prospectively collected data concerning fetuses referred to us for cerebral MRI following detection of ventriculomegaly by ultrasound scan (n= 310). Methods, Among these, we identified and analysed those cases in which ventriculomegaly was isolated and did not exceed 12 mm in ultrasound examinations prior to MRI scan (n= 185). Main outcome measure, Cases in which MRI provided additional information that was likely to have an impact on prenatal management were detailed. Results, During the study period, 310 MRI were performed because of fetal ventriculomegaly. Hundred and eighty-five were suspected to be isolated 10- to 12-mm ventriculomegalies in ultrasound scan and formed our database. MRI confirmed the 10- to 12-mm isolated fetal ventriculomegaly in 106 cases (57.3%) and found other abnormalities in 5 (4.7%) of these 106 cases. MRI found ventricular measurement to be less than 10 mm in 43 cases (23.3%) and more than 12 mm in 36 cases (19.4%). Among these 36 fetuses with ventricle size more than 12 mm, 6 (16.7%) had other abnormalities, whereas MRI did not find other abnormalities in the 43 cases with ventricle size below 10 mm. Conclusion, Before advantages of MRI to ultrasound examination can be demonstrated, it seems reasonable that MRI should remain an investigational tool, restricted to selected clinical situations in which the results are expected to modify case management. Where ultrasound scan suspects isolated ventriculomegaly of 10 to 12 mm, our data suggest that when the finding is confirmed with MRI this could be expected in around 5% of cases. Therefore, the policy of routine MRI in such cases should depend on prenatal centres' priorities. [source] Cerebral MRI findings in a cohort of ex-preterm and control adolescentsACTA PAEDIATRICA, Issue 6 2009Zoltan Nagy Abstract Aim: Newborn infants were entered between 1988 and 1993 into a prospective, long-term, follow-up study. We aimed to investigate how the outcome of preterm-born individuals on cerebral magnetic resonance imaging (MRI) compared to that reported on similar cohorts internationally. Methods: The 74 ex-preterm (12.38,17.7 years, 51% girls) and 69 control participants (12.18,16.47 years, 53% girls) underwent a MRI examination on a 1.5T scanner. Two experienced neuroradiologists examined the T1- and T2-weigthed images first independently and then in consensus without knowledge of group adherence. Results: Only 21 (4 controls) of the 143 sets of scans showed any abnormalities. All but one of these were of mild extent. Among the ex-preterm adolescents two showed only incidental findings while the other 15 had either gliosis or white matter loss. Eleven subjects had white matter loss, seven of which had no other abnormalities. Four subjects had gliosis, three of which had no other abnormalities. The extent, severity or frequency of injury was not related to being born small for gestational age. Conclusion: Although the rate of structural abnormalities was higher in the group of adolescents born preterm, this rate was well below that reported from other centres around the world. We attribute this to the minimally invasive neonatal care and to different social structures in Sweden compared to that of other reports on similar cohorts. [source] Is screening for vesicoureteral reflux mandatory in infants with antenatal renal pelvis dilatation?ACTA PAEDIATRICA, Issue 12 2006KARL-JOHAN LIDEFELT Abstract Aim: To determine whether postnatal ultrasound (US) can guide the use of voiding cystourethrography (VCUG) in infants with antenatally detected renal pelvis dilatation (ARPD). Methods: 14000 pregnant women consecutively underwent routine US examination during the second trimester. US examinations later in pregnancy were performed as follow-up of previous anomalies or on obstetrical indications. One hundred and six fetuses with ARPD ,5 mm were identified. Two postnatal US examinations were performed in the newborns: on the 5th to 7th day and during the 3rd week of life. The findings were considered normal when renal pelvis dilatation (RPD) was ,7 mm on both US examinations, and no calyceal or ureteric dilatation or signs of renal dysplasia or other anomalies were present. VCUG was done 6 to 8 wk after birth. Results: In 53 of 103 analysable infants, the postnatal ultrasonographic findings were normal. The VCUG was abnormal in three of these 53 infants, all with vesicoureteral reflux (VUR) grade I. Of 50 infants who had abnormal US examinations, six had VUR, four of which were grade IV and V reflux. Conclusion: In infants with ARPD who undergo two postnatal US examinations with RPD ,7 mm and have no other abnormalities, VCUG is unnecessary. [source] A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26.2-q26.31CLINICAL GENETICS, Issue 3 2006A Wali Congenital alopecia may occur either alone or in association with ectodermal and other abnormalities. On the bases of such associations, several different syndromes featuring congenital alopecia can be distinguished. Alopecia with mental retardation syndrome (APMR) is a rare autosomal recessive disorder, clinically characterized by total or partial hair loss and mental retardation. In the present study, a five-generation Pakistani family with multiple affected individuals with APMR was ascertained. Patients in this family exhibited typical features of APMR syndrome. The disease locus was mapped to chromosome 3q26.2-q26.31 by carrying out a genome scan followed by fine mapping. A maximum two-point logarithm of odds (LOD) score of 2.93 at ,= 0.0 was obtained at markers D3S3053 and D3S2309. Multipoint linkage analysis resulted in a maximum LOD score of 4.57 with several markers, which supports the linkage. The disease locus was flanked by markers D3S1564 and D3S2427, which corresponds to 9.6-cM region according to the Rutgers combined linkage-physical map of the human genome (build 35) and contains 5.6 Mb. The linkage interval of the APMR locus identified here does not overlap with the one described previously; therefore, this locus has been designated as APMR2. [source] Recurrent abdominal pain in school children revisited: fitting adverse food reactions into the puzzleACTA PAEDIATRICA, Issue 7 2004K Størdal The diagnostic work-up of children seeking health care because of recurrent abdominal pain is a clinical challenge. Food hypersensitivity might be one of the aetiologies behind this symptom. Neither the understanding of possible immune mechanisms nor endoscopic or histological findings have yet contributed to reliable diagnostic tests. Conclusion: The possibility of adverse food reactions should be evaluated among other abnormalities behind recurrent abdominal pain in children. Still, the diagnosis of immune-mediated food reactions depends on open or blinded food challenge. [source] CIDP associated with lung cancer: a paraneoplastic disease?JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 2 2004R Fazio We describe a 65-year-old smoker male followed for five years for a pure motor demyelinating peripheral neuropathy. The patient had a monthly motor relapse with severe weakness restricting him to a wheelchair, so he needed monthly high dose IVIg. On EMG the MCV were very slowed (30 m/sec) without evidence of conduction blocks while SCV were in the normal range. CSF disclosed a high protein level. Laboratory findings did not reveal any other abnormality except for the presence of monoclonal gammopathy IgMk and high titer anti GD1a serum IgM antibodies (1:5000). In March 2003 he had the most severe relapse with flaccid tetraplegia and respiratory failure so severe that he required ventilatory support. A total body CT scan revealed a nodular lung lesion with diffuse lymphangiitis. Biopsy disclosed a lung adenocarcinoma with a severe infiltration of CD8 cells. Surgical eradication of the tumor caused the last severe relapse. At the moment the patient is relapse-free and no more treatment was administered. The clinical course of the motor demyelinating relapsing neuropathy suggests a possible paraneoplastic pathogenesis of the neurological illness also supported by the severe inflammatory infiltration of the tumor. [source] True blue football fan: Tattoo reaction confined to blue pigmentAUSTRALASIAN JOURNAL OF DERMATOLOGY, Issue 1 2010Corinne Yoong ABSTRACT A tattoo reaction which appeared solely on the blue pigment of a 6-month old red and blue football club tattoo of an ardent fan was investigated. The patient was otherwise asymptomatic and no other abnormality was detected on full physical examination. Histology revealed a florid sarcoidal granuloma reaction to blue pigment. Preliminary investigations for systemic sarcoidosis did not reveal any abnormality. The tattoo reaction flattened clinically with the institution of a short course of topical mometasone furoate 0.1% ointment and as the subject remained asymptomatic, close surveillance for the development of systemic sarcoidosis is to continue. The possibility of delayed type hypersensitivity is discussed. [source] Two bellies of the coracobrachialis muscle associated with a third head of the biceps brachii muscleCLINICAL ANATOMY, Issue 5 2001Mostafa M. El-Naggar Abstract Reports that describe the abnormalities and complexities of the anatomy of the arm are important with regard to surgical approaches. This case study reports a combined abnormal form of the coracobrachialis and biceps brachii muscles of the left arm of an adult male cadaver that was detected during the educational gross anatomy dissections of embalmed cadavers. The coracobrachialis muscle demonstrated two bellies which formed shortly inferior to its origin from the coracoid process of the scapula. One belly inserted into the middle of the antero-medial surface of the humerus, whereas the other belly inserted into the medial head of the triceps brachii muscle. The musculocutaneous nerve passed between the two bellies, giving a separate branch to each. We suggest that the two bellies of the coracobrachialis muscle may represent the incompletely fused short heads of the ancestral muscle. The biceps brachii muscle showed a third head, which originated mainly from the antero-medial surface of the humerus and partially from an aponeurosis belonging to the medial head of the triceps brachii muscle. These observations were confined to the left upper limb and were not accompanied by any other abnormality. Clin. Anat. 5:379,382, 2001. © 2001 Wiley-Liss, Inc. [source] | ||||||||||||||||||||||||||||