Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay.

Complete uniparental disomy of chromosome 1 (UPD1) is an uncommon genetic finding about which a specific phenotype has not yet been established. We present a boy who has complete paternal UPD1 and isolated developmental delay and suggest that there is no clear phenotype of UPD1.

Orthostatic Headaches Associated With Spontaneous Intracranial Hypotension and Autonomic Dysfunction-A Case Series in Young Patients.

Background: Orthostatic headaches can be noted in spontaneous intracranial hypotension and orthostatic intolerance. We present a case series of young patients diagnosed with spontaneous intracranial hypotension and were treated for the same but subsequently developed orthostatic intolerance. Methods: We retrospectively reviewed charts for seven young patients with orthostatic headaches related to spontaneous intracranial hypotension and orthostatic intolerance. Results: Patients were diagnosed with spontaneous intracranial hypotension. Diagnosis was confirmed by identifying epidural contrast leakage and three of seven patients were noted to have early renal contrast excretion on computerized tomography myelography. Patients were treated with epidural blood patches. All patients showed persistent symptoms of autonomic dysfunction after treatment of spontaneous intracranial hypotension and orthostatic intolerance was confirmed with head-up tilt table test. Conclusions: Patients with spontaneous intracranial hypotension failing to improve following epidural blood patching should be evaluated for orthostatic intolerance.

Central Pontine Myelinolysis in Pediatric Diabetic Ketoacidosis.

Central pontine myelinolysis (CPM) is rarely reported in pediatric patients with diabetic ketoacidosis (DKA). We report this case of a 16-year-old female with new onset diabetes presenting with DKA, who received aggressive fluid resuscitation and sodium bicarbonate in the emergency department. Later she developed altered mental status concerning for cerebral edema and received hyperosmolar therapy with only transient improvement. Soon she became apneic requiring emergent endotracheal intubation. MRI brain showed cerebral edema, CPM, and subdural hemorrhage. She was extubated on day seven and exhibited mild dysmetria, ataxia, unilateral weakness, and neglect. Upon discharge she was able to ambulate with a walker and speak and eat without difficulty. Although less common than cerebral edema, CPM should be considered in DKA patients with acute neurologic deterioration. Fluid and bicarbonate therapy should be individualized, but larger studies would help guide the management. Although poor outcomes are reported in CPM, favorable outcomes are possible.

Clinical and Imaging Findings in an Infant With Zika Embryopathy.

Recent Zika virus (ZIKV) outbreaks have been associated with an increased incidence of neonatal microcephaly. Subsequently, tropism for the brain was established in human fetal brain tissue. We present the first congenital ZIKV infection in the United States, confirmed by high ZIKV immunoglobulin M antibody titers in serum and cerebrospinal fluid. The phenotypic characteristics of the patient fall within fetal brain disruption sequence, suggesting impaired brain development in the second half of gestation. Brain imaging revealed an almost agyric brain with diffuse parenchymal calcifications, hydrocephalus ex vacuo, and cerebellar hypoplasia. Ophthalmologic examination revealed macular pigment stippling and optic nerve atrophy. Liver, lungs, heart, and bone marrow were not affected. The patient had progressive neurologic deterioration in the first month of life. The discovery of ZIKV infection in human fetal brain tissue along with serologic confirmation proves the vertical transmission of ZIKV. Therefore, ZIKV has joined the group of congenital infections.

Assessing the phytoplankton and water quality of Kingston Harbour and Hellshire coast, Jamaica, after the implementation of a waste water treatment facility / Evaluación de la calidad de las aguas de la Bahía de Kingston y la costa Hellshire, Jamaica, después de la implementación de una planta de tratamiento de aguas residuales

Deteriorating water quality of Kingston Harbour, due primarily to sewage discharge and its effect on nearby Hellshire Coast, has been an issue since the 1970s. The implementation of a new sewage treatment facility in 2007 to receive the harbour’s waste at Soapberry was expected to make a positive difference. Physico-chemical and biological parameters were used to assess water quality to determine the effect of the facility. Eleven stations used in earlier studies (1990 to 1998) were re-sampled to represent Kingston, Hunts Bay and North East Hellshire coastline over a four week sampling regime between May and June 2011. While temperature, salinity, turbidity, dissolved oxygen and pH remained unchanged between the 1990’s and 2011, BOD5, faecal coliform and nitrate concentrations indicated that the water quality had improved minimally in Kinsgton and Hellshire,and deteriorated significantly in Hunts. Phytoplankton biomass decreased in Kingston (from 3.84 mg m-3 in 1998 to 2.81 mg m-3 in 2011) and increased significantly in Hunts (from 14.69 mg m-3 in 1998 to 24.17 mg m-3 in 2011). Biomass along Hellshire was similar (2.15 mg m-3 in 1998; 2.45 mg m-3 in 2011). In 1998 the nanoplankton biomass (2.7 to 20μm) dominated throughout the Harbour. In 2011 Hunts Bay was dominated by net-plankton (>20μm), indicative of eutrophic waters.

El deterioro de la calidad del agua del puerto de Kingston es debido principalmente a la descarga de aguas residuales y su efecto en los alrededores de la Costa de Hellshire, esto ha sido un problema desde la década de 1970. La implementación de una nueva planta de tratamiento de aguas residuales en 2007 para recibir residuos del Puerto de Kingston en Soapberry se esperaba hiciera una diferencia positiva. Parámetros físico-químicos y biológicos fueron utilizados para evaluar la calidad del agua y determinar el efecto de la planta de tratamiento. Once estaciones que fueron utilizadas en estudios anteriores (1990-1998) se muestrearon nuevamente para representar el puerto de Kingston, Bahía Hunts y la costa North East Hellshire sobre un régimen de muestreo de cuatro semanas entre mayo y junio de 2011. Mientras la temperatura, salinidad, turbidez, oxígeno disuelto y pH se mantuvieron sin cambios entre los años noventa y 2011, BOD5, coliformes fecales y concentraciones de nitratos indicaron que había mejorado la calidad del agua del puerto y la costa mínimamente mientras que la calidad del agua en la bahía Hunts se había deteriorado significativamente. La biomasa del fitoplancton disminuyó en el puerto de Kingston (de 3.84mg m-3 en 1998 a 2.81mg m-3 en el 2011), y aumentó significativamente en bahía Hunts (de 14.69mg m-3 en 1998 a 24.17mg m-3 en el 2011). La biomasa en la costa permaneció similar (de 2.15mg m-3 en 1998 a 2.45mg m-3 en 2011). En 1998 la biomasa de nanoplancton (2.7 a 20μm) dominó a lo largo del puerto. En el 2011 la bahía Hunts era dominada por neto-plancton (>20μm), indicativo de aguas eutróficas.

Cerebral sinovenous thrombosis associated with iron deficiency anemia secondary to severe menorrhagia: a case report.

Cerebral sinovenous thrombosis is a rare condition presenting with a wide spectrum of nonspecific symptoms that can make early diagnosis difficult. Cerebral sinovenous thrombosis has been associated with various etiologies. Iron deficiency anemia associated with cerebral sinovenous thrombosis in teenagers is rare. We present a teenage patient with complete thrombosis of the vein of Galen, straight sinus, and left internal cerebral vein associated with iron deficiency anemia due to severe menorrhagia. Mechanisms that can explain the association between iron deficiency anemia and thrombosis are discussed.