First Report of Phytophthora cryptogea Root and Crown Rot on Peach Trees in Chile.

Phytophthora cryptogea Pethybridge and Lafferty was consistently isolated from the Nemaguard rootstock (Prunus persica × P. davidiana) of peach trees in Chile. Symptoms included reddish necrotic tissues at the base of the trunk often extending to the main roots, root rot, gummosis, foliar chlorosis, lack of vigor, and dieback, with severely infected trees dying. Isolations with corn meal agar (Difco, Detroit, MI) amended with antibiotics and fungicides (ACMA) (2) and pure cultures were obtained by hyphal tip transfers to ACMA. Ten isolates from different locations were identified by morphology and growth at cardinal temperatures (1). These isolates produced hyphal swellings and sporangia by using carrot juice broth (2) for 48 h followed by the addition of 1% (w/v) nonsterilized soil extract. Sporangia were nonpapillate, internally proliferating, noncaducous, ovoid to obpyriform, and with mean dimensions of 36 × 24 µm. All isolates were typed as A1 using a P. cinnamomi A2 culture as the test isolate and produced oospores on clarified V8 juice agar amended with thiamine, tryptophan, and ß-sitosterol (2) after 15 to 30 days at 20°C in the dark. Mycelia grew between 5 and 30°C, with optimal growth at 20°C and no growth at 35°C. The ITS sequence analysis performed by IMI (CABI Bioscience, Wallingford, UK) indicated a close match with P. cryptogea, P. drechsleri, and P. erythroseptica, however, peach isolates were differentiated from P. drechsleri and P. erythroseptica by the absence of mycelial growth at 35°C and the heterothallic production of oospores, respectively. Four P. cryptogea isolates were pathogenic when inoculated onto 1-year-old twigs detached from a Nemaguard tree, causing reddish necrotic lesions varying from 7 to 29 mm long after 15 days of incubation at 20°C. Two-year-old P. persica var. nectarina cv. Ruby Diamond budded on Nemaguard and cultivated in 100-liter containers in open field conditions were inoculated with 500-ml of a mycelial suspension (4.5 × 106 propagules per ml) per plant added to 15-cm-deep holes around the trunk. Plants were immediately irrigated and maintained at field capacity during the experiment. An equal number of noninoculated trees treated similarly were left as controls. During the spring, plants developed a general chlorosis and declined within 90 days postinoculation. Tests were repeated with similar results. In other preliminary tests, plants developed cankers characterized by gumming and reddish necrotic lesions underneath the bark following trunk inoculations with mycelium in agar of the same isolates obtained on ACMA. These tests were also repeated. The pathogen was consistently reisolated from symptomatic tissue. To our knowledge, this is the first report of P. cryptogea as a pathogen on peach trees in Chile. References: (1) F. J. Newhook et al. Mycol. Pap. No. 143. CMI, Kew, Surrey, UK, 1978. (2) W. F. Wilcox and B. A. Latorre. Plant Dis. 86:1357, 2002.

Identities and Geographic Distributions of Phytophthora spp. Causing Root Rot of Red Raspberry in Chile.

Five identified and two unidentified Phytophthora spp. were isolated from diseased roots of dead or declining red raspberry (Rubus idaeus L.) plants sampled from 18 plantations along a >1,000-km north-south axis in Chile. The array of Phytophthora spp. isolated was strongly associated with geographical location. P. fragariae var. rubi was recovered from 75 and 60% of the plantations in the southern (40°16' to 40°53' S latitude) and central (34°35' to 37°23' S latitude) production sectors, respectively, but was not recovered from any plantation in the northern sector (32°43' to 33°45' S latitude). Similarly, P. megasperma and P. gonopodyides were recovered from multiple plantations in the southern and central sectors but were not recovered in the northern sector. In contrast, P. cryptogea was recovered from 80% of the plantations in both the northern and central sectors but not from any plantation in the south, whereas P. citricolawas isolated from diseased plants in all sectors. In subsequent pathogenicity trials, P. citricola, P. cryptogea, and an unidentified Phytophthora sp. were equally and highly virulent on 'Heritage' red raspberry in each of three greenhouse experiments. The other species were less virulent in the experiment when soil temperatures were highest (mean weekly maximum = 27.5°C) relative to the other two experiments when temperatures were more moderate (mean weekly maxima of 19.9 and 23.7°C). Isolates identified as P. cryptogea were very similar to P. cryptogea isolates recovered previously from kiwi fruit in Chile and from deciduous fruit trees in California with respect to morphological characters and electrophoretic banding patterns of soluble mycelial proteins. Using the same criteria, isolates identified as P. gonopodyides were very similar to isolates recovered earlier from deciduous fruit crops in New York, which previously were identified as P. cryptogea sensu lato but are hereby reclassified as P. gonopodyides.

Phytophthora Species Associated with Crown and Root Rot of Apple in Chile.

Phytophthora cactorum, P. cryptogea, P. gonapodyides, and P. megasperma were isolated from necrotic root and crown tissues or the rhizospheres of apple trees exhibiting typical symptoms of Phytophthora root and crown rot in the Central Valley of Chile. Representative isolates of all four species were pathogenic on a variety of apple rootstocks and scions in trials conducted on excised shoots and 1-year-old MM.106 rootstock grown for 4 months in infested potting medium. P. cactorum was the most frequently isolated species and the most virulent in pot tests, although a significant Phytophthora sp.-apple genotype interaction was observed. This is the first report of any species other than P. cactorum causing root and crown rot of apple trees in Chile.

Uruguay facio-cardio-musculo-skeletal syndrome: a novel X-linked recessive disorder.

We report on three male patients from a single family with a brachyturricephaly, "pugilistic" facial appearance, a muffled voice, cardiomyopathy, muscular hypertrophy, broad hands, wide feet with progressive pes cavus deformities, dislocation of toes, variable congenital hip dislocation, and scoliosis. Three other males in the family, now deceased from cardiac disease, appear to have had the same disorder. The mother of the propositus has milder signs of the syndrome. All affected males are related through the maternal line. These cases represent an apparently previously undescribed X-linked recessive syndrome.

Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia.

We report on a four-generation inbred family including 10 individuals affected with a form of craniotubular dysplasia (CTD). All affected patients were born to consanguineous healthy parents; this finding, together with the equal sex ratio among affected individuals and the occurrence of only normal individuals among their offspring, indicates that the disease in this family is an autosomal recessive (AR) trait. Taking into account the segregation pattern of the disease in the family and the radiological characteristics of two young CTD patients, the most likely diagnosis for the defect is AR craniometaphyseal dysplasia (CMD). CMD is a CTD, with both autosomal dominant (AD) and recessive forms. The description of the present genealogy confirms the AR pattern of inheritance of some cases of CMD and contributes to a better delineation of the clinical spectrum of AR CMD, suggesting a more pronounced diaphyseal involvement in the AR compared with the AD CMD. Through genomewide scanning, we mapped the AR CMD to a 7 cM interval, between D6S302 and D6S1639, at 6q21-22 region. We have also excluded the positional candidate COL10A1 gene as being the responsible for this disorder. Curiously, a form of AR spondylocostal dysplasia (SD) also segregates in the family, including one affected individual with both conditions. The gene DLL3, mapped to 19q13 region, was recently found to be responsible for one form of AR SD; however, we did not find evidence of linkage between this 19q region and the SD segregating in our family, thus implying in genetic heterogeneity for AR SD.

Clinical spectrum of fibroblast growth factor receptor mutations.

During the last few years, it has been demonstrated that some syndromic craniosynostosis and short-limb dwarfism syndromes, a heterogeneous group comprising of 11 distinct clinical entities, are caused by mutations in one of three fibroblast growth factor receptor genes (FGFR1, FGFR2, and FGFR3). The present review list all mutations described to date in these three genes and the phenotypes associated with them. In addition, the tentative phenotype-genotype correlation is discussed, including the most suggested causative mechanisms for these conditions.

Displasias esqueléticas: Aproximación a una nueva clasificación. Experiencia del Instituto de Genética Médica del Hospital Italiano / Skeletal dysplasias: a new classification

Las Displasias Esqueléticas (DE) son un grupo heterogéneo de afecciones del tejido óseo y cartilaginoso para las cuales se han propuesto numerosas clasificaciones. Actualmente la tendencia es a clasificarlas según la anomalía bioquímica-molecular que las determinan. En el presente trabajo realizamos un análisis de la casuística sobre el tema en el Instituto de Genética Médica (Hospital Italiano), tomando en consideración la población que nos fue referida con diagnóstico sospecha de DE y la población en la que se llegó a un diagnóstico nosológico definitivo de DE. Finalmente, las historias fueron reclasificadas según los nuevos criterios bioquímico-moleculares en Familias de DE. Se encontró que el 51 por ciento de los pacientes diagnosticados como afectados nos fueron remitidos con otro diagnóstico que probable DE. La familia de DE más frecuentemente diagnosticada fue la de la Acondroplasia (mutaciones a nivel del FGFR3). Desarrollar una correcta clasificación nos permitirá poseer un mejor registro de patología ósea, identificar poblaciones de riesgo, lo cual permitirá establecer políticas de salud más racionales destinadas a la prevención de este tipo en particular de defecto congénito(AU)

Displasias esqueléticas: Aproximación a una nueva clasificación. Experiencia del Instituto de Genética Médica del Hospital Italiano / Skeletal dysplasias: a new classification

Las Displasias Esqueléticas (DE) son un grupo heterogéneo de afecciones del tejido óseo y cartilaginoso para las cuales se han propuesto numerosas clasificaciones. Actualmente la tendencia es a clasificarlas según la anomalía bioquímica-molecular que las determinan. En el presente trabajo realizamos un análisis de la casuística sobre el tema en el Instituto de Genética Médica (Hospital Italiano), tomando en consideración la población que nos fue referida con diagnóstico "sospecha de DE" y la población en la que se llegó a un diagnóstico nosológico definitivo de DE. Finalmente, las historias fueron reclasificadas según los nuevos criterios bioquímico-moleculares en "Familias de DE". Se encontró que el 51 por ciento de los pacientes diagnosticados como afectados nos fueron remitidos con otro diagnóstico que "probable DE". La familia de DE más frecuentemente diagnosticada fue la de la Acondroplasia (mutaciones a nivel del FGFR3). Desarrollar una correcta clasificación nos permitirá poseer un mejor registro de patología ósea, identificar poblaciones de riesgo, lo cual permitirá establecer políticas de salud más racionales destinadas a la prevención de este tipo en particular de defecto congénito

Abnormal serum uric acid levels in children.

Measurement of the serum uric acid level, most commonly considered in adult patients, is frequently obtained inadvertently for pediatric patients because it is a standard component of many multichannel chemistry profiles offered by clinical laboratories. Most standard references for normal uric acid values do not take into account the impact of the metabolic changes in children at different ages on the uric acid level. A substantial number of childhood conditions may produce perturbations in the serum uric acid level. Knowledge of normal serum uric acid levels and of the conditions affecting those levels in children enables a more focused pursuit of underlying abnormalities.

Range-gated pulsed Doppler ultrasonographic evaluation of carotid arterial blood flow in small preterm infants with patent ductus arteriosus.

Range-gated pulsed Doppler (RGPD) ultrasonography was utilized to study the effect of a patent ductus arteriosus (PDA) on carotid arterial blood flow in small preterm infants. Carotid arterial flow velocity studies were performed on 23 preterm infants, sampling right and left carotid arteries. Studies on seven infants after PDA ligation and on seven who developed no evidence of PDA were used as controls. A strong relationship was demonstrated between diastolic reversal in the carotid arteries and PDA. The results of this study indicate that the RGPD flow velocity curve from the carotid artery is more sensitive than M-mode echocardiography or clinical examination in detecting PDA, and that PDA in small preterm infants is associated with a distinct abnormality in the carotid arterial flow pattern.