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Cilia proteins control cerebellar morphogenesis by promoting expansion of the granule progenitor pool. Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients. Autism at the beginning: microstructural and growth abnormalities underlying the cognitive and behavioral phenotype of autism. Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. Abnormalities of cerebellar foliation and fissuration: classification, neurogenetics and clinicoradiological correlations. Cerebellar lesions in tuberous sclerosis complex: neurobehavioral and neuroimaging correlates. Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy Unipolar brush cells of the cerebellum are produced in the rhombic lip and migrate through developing white matter. Sonic hedgehog: a common signal for ventral patterning along the rostrocaudal axis of the neural tube. Graded sonic hedgehog signaling and the specification of cell fate in the ventral neural tube. Development of the deep cerebellar nuclei: transcription factors and cell migration from the rhombic lip. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. Neuronal defects in the hindbrain of Hoxa1, Hoxb1 and Hoxb2 mutants reflect regulatory interactions among these Hox genes. Hoxa1 and Hoxb1 synergize in patterning the hindbrain, cranial nerves and second pharyngeal arch. Molar tooth sign of the midbrain junction: occurence in multiple distinct syndromes. Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large(myd) mouse defines a natural model for glycosylationdeficient muscle - eye - brain disorders. Neonatal diabetes mellitus and cerebellar hypoplasia/ agenesis: report of a new recessive syndrome. X-linked nonprogressive congenital cerebellar hypoplasia: clinical description and mapping to chromosome Xq. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis. Direct visualization of nucleogenesis by precerebellar neurons: involvement of ventricle-directed, radial fibre-associated migration. Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. The radiological features of hemimegalencephaly including three cases associated with Proteus syndrome. Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes. Three siblings of fatal infantile encephalopathy with olivopontocerebellar hypoplasia and microcephaly. A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome. Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality. Nmyc upregulation by sonic hedgehog signaling promotes proliferation in developing cerebellar granule neuron precursors. Carbohydrate deficient glycoprotein syndromes: inborn errors of protein glycosylation.

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At right is a slide mount of stromata in a solution of potassium hydroxide, showing the characteristic release of red pigment. The common name, hobnail canker, refers to the masses of rounded, bumpy stromata that appear on affected stems. Agent Description Stromata that emerge from killed bark initially produce asexual spores (conidia) in irregular chambers. Flask-shaped sexual fruiting structures (perithecia) are produced in the stromata late in the season. Sexual spores (ascospores) are produced in saclike structures (asci) within the perithecia. The fungus is reported to infect through wounds, such as those which form naturally through branch breakage, or through pruning cuts or other mechanical wounds. Moisture favors dispersal of spores, so presumably most infections occur during the rainy season. Asexual spores are most likely spread by rain splash, and possibly by insects or pruning tools. On many hosts, canker expansion occurs most rapidly on drought stressed trees during summer months. Branch Diseases 91 Oak mistletoe Phoradendron villosum Distribution/Hosts Oak mistletoe occurs from northwestern Oregon, throughout California, and into Mexico. Reported oak hosts in California include valley, blue, Oregon white, coast live, interior live, canyon live, and California black oak. Phoradendron villosum prefers oaks as a host but is also found on some other hardwoods, including California bay, manzanita, Adenostoma, and Rhus. Symptoms Oak mistletoe forms spherical to ellipsoidal clumps of light green leafy shoots that emerge from oak branches. The oak branch is slightly to significantly swollen at the point where clusters of mistletoe shoots emerge. Clumps of oak mistletoe are often located in the upper portion of oak canopies (fig. Mistletoe infections tend to be clustered and multiple clumps commonly occur in individual trees or in groups of adjacent trees. The leaves and young stems are covered with whitish or yellowish hairs, but older stems are hairless (glabrous). Branches are generally erect, although longer stems, which can be up to 1 m long, may become pendulous under the weight of the foliage. Flowers are present between July and September with male and female flowers occurring on separate plants. The fruit are eaten by various birds, including robins, bluebirds, thrushes, and cedar waxwings. Germinating seeds produce a root-like structure that grows along the bark surface to a point where it produces a specialized structure (haustorium) that penetrates into the bark. Within the host branch, the mistletoe plant forms connections between its own phloem and xylem cells and those of the host. The connections allow the mistletoe plant to absorb water and nutrients from its host. One or more years may elapse between infection of the host stem and the emergence of green mistletoe shoots. Although dependent on the host oak for water and mineral nutrients, leafy mistletoe 94 A Field Guide to Insects and Diseases of California Oaks plants meet all of their carbon-based energy and nutritional needs through their own photosynthesis. Mistletoe plants are perennial and generally live until the branch of the host on which they are situated dies. Importance Leafy mistletoe usually has little impact on healthy oaks, although it may be unsightly in urban settings. Oaks with heavy mistletoe infestations may therefore deplete available soil moisture reserves earlier in the season.

Methods: We previously conducted a nationwide renal biopsy survey including 71,151 patients from 938 hospitals spanning 282 cities across China, over an 11-year period from January 2004 to December 2014. A total of 8547 pediatric patients (18 years old) were selected from the survey for current analysis. The demographic and clinical variables were extracted from referral records and pathological reports. Conclusions: In conclusion, we provided comprehensive information on the composition of pediatric glomerular diseases in China. The spectrum and clinicopathological correlations of pediatric glomerular diseases varied greatly across genders and age groups. Background: Despite the development of biomarkers and noninvasive imaging tools, biopsy remains the only method for correctly diagnosing patients with unexplained hematuria, proteinuria and renal failure. Renal biopsy has been performed for several decades in Taiwan; however, a national data registry is still lacking until 2013. Methods: the Renal Biopsy Registry Committee was established within the Taiwan Society of Nephrology in January 2013. A biopsy registry format, including basic demographic data, baseline clinical features, laboratory data, and clinical and pathological diagnosis was developed. Approval from the local institutional review board was obtained in each participating medical center. Results: From January 2014 to September 2016, 1445 renal biopsies were identified from 17 medical centers. IgA nephropathy was the leading cause of chronic nephritic syndrome, acute nephritic syndrome, and persistent hematuria. Conclusions: this is the first report of the National Renal Biopsy Registry in Taiwan. Four out of five patients who were selected to receive immunosuppressive therapy had improved or stable renal function at the end of follow up. P values calculated using Fisher Exact test for categorical and Kruskal-Wallis test for continuous variables Very Low Levels of Microscopic Hematuria in Potential Living Kidney Donors Is Associated with Pathology That Precludes Donation Vineeta Kumar,3 Manish K. Background: A threshold of 3 rbc/hpf (red blood cells/high power field) or higher prompts additional testing when evaluating potential living kidney donors at most centers in the United States. In our experience, a lower degree of hematuria has yielded pathology that precluded kidney donation and here in we present the results of a single center experience. Methods: We prospectively identified isolated asymptomatic microscopic hematuria in 19 out of 1124 potential living kidney donors. Microscopic hematuria was defined as presence of 1 rbc/hpf and persistent by presence on 2 separate urinalysis. If unrevealing, they underwent a native kidney biopsy analyzed by a single pathologist using light, immunofluorescence and electron microscopy. One and two year follow up data have no worsening of hematuria or any of the renal parameters since donation. Conclusions: Persistent asymptomatic microscopic hematuria of very minor degree in potential kidney donors with a biologically related recipient can be associated with pathologic findings that preclude kidney donation. A higher threshold of rbc/hpf on urine analysis as currently used can lead to a missed diagnosis and alter long term prognosis. At our center we have lowered our definition to 1 rbc/hpf after the results of this analysis. Background: Renal fibrosis is the common pathway of chronic kidney disease progression. One recovered renal function with immunosuppression; the other was not immunosuppressed and progressed to dialysis. Two patients, with features of systemic vasculitis, received immunosuppression; one recovered renal function and the other progressed to dialysis. Two out of three patients with renal-limited disease had stable renal function on mycophenolate mofetil, and one was lost to follow-up. Of the remaining four patients, one had features of endocapillary proliferation and the other three did not.

Therefore, we examined whether all-cause mortality differed between dialysis patients with and without a history of stroke before dialysis initiation. Factors contributing to all-cause mortality were examined using stepwise multivariate Cox proportional hazards analysis. The median of follow up period was 1,318 days (interquartile range: 1,109-1,509 days). The all-cause mortality was significantly higher in the stroke group compared to the non-stroke group (hazard ratio = 5. Conclusions: History of stroke before dialysis initiation was associated with a higher all-cause mortality. Background: Several lines of evidence have suggested an association between low hemoglobin concentrations and hemorrhagic stroke, and an association between high hemoglobin concentrations and ischemic stroke. However, the contribution of hemoglobin concentrations to the separate incidence of hemorrhagic or ischemic stroke in patients undergoing hemodialysis remains unclear. Methods: A total of 3,436 participants undergoing maintenance hemodialysis were followed up for 4 years. The primary outcome was incidence of first development of hemorrhagic or ischemic stroke. Hemoglobin concentrations were divided into quartiles based on baseline data (hemoglobin [g/dL]: Q1, 9. The 4-year incidence rate of hemorrhagic stroke was significantly higher with lower hemoglobin concentrations. Compared with the quartile of the highest hemoglobin concentrations (Q4), the multivariable-adjusted hazard ratios for hemorrhagic stroke were 1. There did not appear to be an association between the 4-year incidence rate of ischemic stroke and hemoglobin concentrations. Compared with the quartile of the lowest hemoglobin concentrations (Q1), the multivariable-adjusted hazard ratios for ischemic stroke were 1. Conclusions: Low hemoglobin concentrations are associated with high risk of hemorrhagic stroke in patients undergoing hemodialysis. However, hemoglobin concentrations are not associated with the risk of ischemic stroke. Vascular calcification is associated with structural and functional abnormality of the heart and blood vessels. We extracted medical data from de-identified electronic clinical charts (EuClid database). We partitioned the initial dataset in a training (90%) and validation (10%) sample. By incorporating major hemodialysis databases in the world, major quantitative features of the peridialysis mortality associations were explicitly identified in our study. For this study, we examined of 435 patients after excluding those who died within 1 year after registration (N=28) and lack of blood pressure data for more than 2 time (N=6). Hourly means were averaged to obtain interdialytic systolic and diastolic blood pressure readings. Poster Friday Dialysis: Epidemiology, Outcomes, Clinical Trials - Cardiovascular - I Methods: Between July 2015 to July 2016, 368 patients on maintenance hemodialysis (4h / thrice weekly over 3 months) from six tertiary hospitals were recruited to participate an ongoing cohort study. Interdialytic blood pressure was evaluated by ambulatory blood pressure monitoring. The association between betaine and blood pressure was evaluated by multiple linear regression analysis. There was no significant difference of plasma betaine level across certain subgroups, including age (>60 vs. Multiple linear regression analysis revealed significant associations of betaine with both systolic blood pressure (=3.