Postnatal assessment of growth,nutrition, and urinary tract infections of infants with antenatally detected hydronephrosis

The widespread utilization of prenatal ultrasonography and the detection of antenatal hydronephrosis (AH) have raised the importance of postnatal follow-up of these infants. In this study, we aimed to determine the importance of an early diagnosis for the treatment of urinary tract malformations (UTM) as well as the postnatal evaluation of growth and nutrition status and the frequency of urinary tract infection (UTI) in infants with AH. We evaluated 246 infants (183 boys, 63 girls) whose routine antenatal scans showed an anterior-posterior pelvic diameter (APPD) ≥5 mm. Of the 246 patients, 175 (71.1%) were found to be pathological and 71 were evaluated as normal after the follow-up period. The median follow-up periods of normal and abnormal cases were 45.7 and 43.4 months, respectively. All cases with or without UTM were evaluated in terms of UTI, scars on DMSA, growth [Height Z score (HZ), Weight Z score (WZ)] and nutrition [Weight height index (WHI)] status. The annual UTI frequency was higher in cases with UTM (1.32 ± 1.66 episode/year) than in cases without abnormality (0.27 ± 0.67 episode/year) (P < 0.001). The postnatal evaluation of growth and nutritional status in children with UTM (mean WHI, HZ, and WZ scores: 96.82 ± 10.21, 0.03 ± 0.54 and 0.04 ± 0.61, respectively) was found to be significantly worse than in cases without abnormality (102.25 ± 9.84, 0.14 ± 0.64 and 0.24 ± 0.76, respectively), (P < 0.05). In abnormal patients, the mean WHI, HZ, and WZ were significantly improved to 101.63 ± 9.75, 0.26 ± 1.07, and 0.28 ± 0.98, respectively, and HZ or WZ scores were found to be similar when compared to normals. In conclusion, postnatal early management of infants with AH seems to prevent frequent UTIs and nutritional disturbances enabling normal growth.     

Protracted febrile myalgia syndrome in familial Mediterranean fever

Familial Mediterranean fever (FMF) is an autosomal, recessively inherited multisystem disease that affects various groups of people originating from the Mediterranean Sea region, most specifically those of Jewish, Turkish, Armenian, and Arabic ethnicity. Recurrent attacks of fever and sterile polyserositis of the peritoneum, synovial membranes, and pleura are the main clinical features, although the clinical features of FMF have been expanded in recent years to also include severe myalgia, scrotal swelling, cardiac involvement, and protracted febrile myalgia syndrome (PFMS). PFMS is seen in only a small percentage of FMF patients and is characterized by severe debilitating myalgia of the upper and lower extremities and high fever, occasionally accompanied by abdominal pain, diarrhea, arthritis/arthralgia, and transient vasculitic purpura mimicking Henoch-Schönlein purpura (HSP). Here, we report on a patient with FMF who also presents with PFMS, which is an uncommon and severe manifestation of the disease.     

Comparative analysis of Alu repeats in primate genomes

Using bacteria artificial chromosome (BAC) end sequences (16.9 Mb) and high-quality alignments of genomic sequences (17.4 Mb), we performed a global assessment of the divergence distributions, phylogenies, and consensus sequences for Alu elements in primates including lemur, marmoset, macaque, baboon, and chimpanzee as compared to human. We found that in lemurs, Alu elements show a broader and more symmetric sequence divergence distribution, suggesting a steady rate of Alu retrotransposition activity among prosimians. In contrast, Alu elements in anthropoids show a skewed distribution shifted toward more ancient elements with continual declining rates in recent Alu activity along the hominoid lineage of evolution. Using an integrated approach combining mutation profile and insertion/deletion analyses, we identified nine novel lineage-specific Alu subfamilies in lemur (seven), marmoset (one), and baboon/macaque (one) containing multiple diagnostic mutations distinct from their human counterparts—Alu J, S, and Y subfamilies, respectively. Among these primates, we show that that the lemur has the lowest density of Alu repeats (55 repeats/Mb), while marmoset has the greatest abundance (188 repeats/Mb). We estimate that ∼70% of lemur and 16% of marmoset Alu elements belong to lineage-specific subfamilies. Our analysis has provided an evolutionary framework for further classification and refinement of the Alu repeat phylogeny. The differences in the distribution and rates of Alu activity have played an important role in subtly reshaping the structure of primate genomes. The functional consequences of these changes among the diverse primate lineages over such short periods of evolutionary time are an important area of future investigation.Alu repeats are primate-specific short interspersed sequence elements (SINEs), ∼300 nt in length, propagating within a genome through retrotransposition (Schmid 1996). They are the most abundant repeat sequences found in humans, with more than 1.1 million copies accounting for ∼10% of the human genome sequence (Lander et al. 2001). Recent work increasingly recognizes that Alu elements have a greater impact than expected on phenotypic change, diseases, and evolution. Alu elements were demonstrated to mediate insertion mutagenesis, “exonization” by alternative splicing, genomic rearrangements, segmental duplication, and expression regulation causing disorders like Hunter syndrome, hemophilia A, and Sly syndrome (Batzer and Deininger 2002). The oldest Alu elements were estimated to emerge either coincident with or immediately after the radiation of primates. Based on Alu subfamily sequence diversity, a major burst in Alu amplification was estimated to have occurred 25–50 million years ago (Mya) (Shen et al. 1991). Younger Alu repeat elements have emerged in the hominoid, although the rate of more recent retrotransposition events has declined (Batzer and Deininger 2002). Owing to their unidirectional mode of evolution, SINE insertions have been used as largely homoplasy-free character states in cladistic analyses of primates (Schmitz et al. 2001; Roos et al. 2004). Alu insertion loci have also been used to clarify relationships among New World monkeys (NWM), Old World monkeys (OWM), and the human–chimpanzee–gorilla trichotomy (Salem et al. 2003; Ray and Batzer 2005; Ray et al. 2005; Xing et al. 2005).Alu elements in human lineage have been extensively characterized (Batzer and Deininger 2002). They are divided into subfamilies based on the extent of sequence diversity and diagnostic mutations (Britten et al. 1988; Jurka and Smith 1988). The monomeric repeats (such as FAM, FRAM, and FLAM) are the oldest Alu-related elements derived from the 7SL RNA gene. The more recent dimeric Alu elements consist of two similar but not identical monomers with a short adenine-rich linker between the two monomers and a longer and more variable A-rich region at the 3′-end. The various dimeric Alu subfamilies have been identified in different evolutionary ages with overlap. AluJo and AluJb are the most ancient Alu dimeric subfamilies. AluS represents the major burst of Alu elements, which contains subfamilies such as Sx, Sp, Sq, Sg, and Sc, with Sx being the most common. AluY is the youngest subfamily in the hominoid lineage, which continues to retrotranspose, and is subsequently polymorphic in the population. Pevzner and colleagues identified 213 human Alu subfamilies at a much finer resolution using a novel method (Alucode) (Price et al. 2004). This method first split Alu subfamilies based on “biprofiles,” that is, linkage of pairs of nucleotide values, and then used the calibration of Alu mutation rates to split subfamilies containing overrepresented individual mutations. These observations generally support the master-gene hypothesis for Alu amplifications, i.e., Alu subfamilies originated through successive waves of fixation from sequential small subsets of master elements (Batzer and Deininger 2002).To date, genome-wide characterization of Alu repeats in nonhuman primates has been limited to chimpanzee and macaque (The Chimpanzee Sequencing and Analysis Consortium 2005; Gibbs et al. 2007). Most chimpanzee-specific elements belong to a subfamily (AluYc1) that is very similar to the source gene in the human–chimpanzee last common ancestor. In macaque, Alu elements have evolved into four currently active lineages: AluYRa1-4, AluYRb1-4, AluYRc1-2, and AluYRd1-4 (Han et al. 2007). Currently, there are three macaque consensus sequences: AluMacYa3, AluMacYb2, and AluMAcYb4 in Repbase (Version 13.5). For other primate genomes, most studies have been based on PCR cross-amplification among diverse primate taxa and, therefore, are potentially biased to either conserved regions or limited to closely related species. Ray and Batzer (2005) recovered 48 NWM-specific Alu elements using a combination of PCR and computational approaches and reported three NWM-specific subfamilies: AluTa7, AluTa10, and AluTa1. In another publication, Herke et al. (2007) reported a few loci (such as {"type":"entrez-nucleotide","attrs":{"text":"DQ822065","term_id":"112418420","term_text":"DQ822065"}}DQ822065) from the lemur derived from PCR display. Initial comparative analysis based on small samples of primate genomic sequences demonstrated that the fixation rates of retroelements (especially SINE/Alu) vary radically in different primate lineages (Liu et al. 2003; Hedges et al. 2004). In this study, we analyze Alu elements in randomly sampled BAC end sequences (BES) and finished genomic sequence alignments (ALN) from five nonhuman primates—lemur, marmoset, macaque, baboon, and chimpanzee—using two distinct approaches combining mutation profile and insertion/deletion analysis. The five species, including great apes (chimpanzee), OWM (baboon and macaque), NWM (marmoset), and prosimians (lemur), are estimated to have diverged from humans at distant time points, ∼6, 25, 25, 35, and 55 Mya, respectively (Goodman 1999). Thus, this spectrum of the taxa provides a vista of Alu-element changes at different nodes during primate evolution.     

Transient gestational diabetes insipidus diagnosed in successive pregnancies: review of pathophysiology,diagnosis, treatment,and management of delivery

Gestational diabetes insipidus (GDI) is a rare disorder characterised by polyuria, polydypsia, and excessive thirst usually manifesting in the third trimester of pregnancy. The etiology is thought to depend on excessive vasopressinase activity, a placental enzyme that degrades arginine-vasopressin (AVP), but not 1-deamino-8-d-arginine vasopressin (dDAVP), which is a synthetic form. This is a transient syndrome and may be associated with acute fatty liver of pregnancy and preeclampsia. The use of dDAVP in symptomatic cases has been proven as a safe method for both the mother and the fetus during the pregnancy. We report a case of recurrent gestational diabetes insipidus in successive pregnancies, which responded to dDAVP and subsided after delivery. This report was presented at 8th European Congress of Endocrinology held in Goteborg, SWEDEN in 3–7 September 2005.     

Merosin-negative congenital muscular dystrophy: diffusion-weighted imaging findings of brain

Merosin-negative congenital muscular dystrophy is a rare genetic disease of childhood involving the central and peripheral nervous system. There were high signal intensities throughout the centrum semiovale, periventricular, and sub-cortical white matters on T2-weighted images in a 4-year-old girl with merosin-negative congenital muscular dystrophy. An apparent diffusion coefficient map revealed increased signal intensity and apparent diffusion coefficient values in the periventricular and deep white matters. It may be attributable to increased water content in the white matter because of an abnormal blood-brain barrier rather than to decreased or abnormal myelination.     

Statistical shape analysis of the rat hippocampus in epilepsy

In this study, we aimed to (1) propose landmarks for the hippocampus in a rat brain using an experimental study and (2) investigate hippocampus shape changes in a rat brain with epilepsy using the statistical shape analysis method. We have used the statistical shape analysis method to illustrate hippocampal shape deformation due to epilepsy. Statistical shape analysis is of increasing interest to the neuroimaging community because of its potential for locating morphological changes. Nineteen rat brains (ten healthy and nine epileptic) with hematoxylin and eosin images of the hippocampus were used. The results strongly indicated that the normalized hippocampal shape of the epileptic group was different from the nonepileptic group; deformation was seen most significantly in the medial regions of the cornu ammonis (CA1 and CA3) of the hippocampus. In conclusion, our landmark-based methodology detected regional differences in the hippocampus in epilepsy. This study may serve as an initial reference for future studies on shape alteration of the hippocampus associated with certain medical conditions.     

Treatment of an amelogenesis imperfecta with restorations prepared using a modified clear matrix technique

The rehabilitation of a patient with amelogenesis imperfecta (AI) from both functional and esthetic standpoints represents a challenge. A number of treatment options have been proposed. Recently, the use of adhesive restorations has gained popularity because of the improved physical properties of these materials. This article describes a treatment with direct resin composite for the restoration of teeth affected by the hypomature type of AI. A modified clear matrix technique was used during the preparation and restoration process. The use of the technique provides clinicians with reduced chair time, and the matrix can be repeated when needed; restorations can be performed relatively quickly with a minimal post‐operative finishing process. This article highlights the use of direct‐bonded resin composites providing satisfactory esthetics and function in restoring AI‐affected teeth.     

Executive and verbal working memory dysfunction in first-degree relatives of patients with bipolar disorder

The authors aimed to investigate cognitive performance of first-degree relatives of probands with bipolar disorder (BD). They hypothesized that the relatives of BD patients would have impaired performance on cognitive tests of frontal-executive functions. A neuropsychological battery was administered to 34 first-degree relatives of BD probands and 25 control subjects. Relatives showed significant impairment in verbal working memory and executive function. Verbal memory and psychomotor performances of relatives were not different from control subjects. One particular component of executive function, cognitive flexibility, was associated with family history of mood episodes with psychotic features. Verbal working memory and executive function deficits may be useful endophenotypic markers of genetic vulnerability to BD.