Sulfite Oxidase Deficiency – An Unusual Late and Mild Presentation

Introduction: Sulfite oxidase deficiency (SOD) is an autosomal recessive inherited disease usually presenting in the neonatal period with severe neurological symptoms including seizures, often refractory to anticonvulsant therapy, and a rapidly progressive encephalopathy resembling neonatal hypoxic ischemia, with premature death. Most patients develop dislocated ocular lenses. Later or milder presentations of SOD are being reported with increasing frequency. These presentations include neurological regression with loss of previously acquired milestones or movement disorders. Case report: We report a four years old girl presenting with intermittent ataxia and uncoordinated limb movements. A similar episode of ataxia had occurred previously, one year before, with complete neurologic recovery and normal developmental milestones. Bilateral lens dislocation had been recently diagnosed. Cranial MRI demonstrated bilateral globus pallidus enhancement. Low homocysteine was found in plasma and SulfitestR was positive. Further investigations led to confirmation of isolated sulfite oxidase deficiency with no enzyme activity detected on skin fibroblasts culture. Discussion: This case illustrates the clinical variability of SOD and it is not only atypical but also seems to be the mildest form described so far. The association of ectopia lentis with a movement disorder, even without psychomotor regression, should prompt us to look for this diagnosis.

Molecular characterization of a de novo t (11;18) translocation associated with Peter´s anomaly

Dissertação para obtenção do grau de Mestre em Genética Molecular e Biomedicina

Novel insulated gamma and lentis retroviral vectors towards safer genetic modification of stem cells

In otherwise successful gene therapy trials insertional mutagenesis has resulted in leukemia. The identification of new short synthetic genetic insulator elements (GIE) which would both prevent such activation effects and shield the transgene from silencing, is a main challenge. Previous attempts with e.g. b-globin HS4, have met with poor efficacy and genetic instability. We have investigated potential improvement with two new candidate synthetic GIEs in SIN-gamma and lentiviral vectors. With each constructs two internal promoters have been tested: either the strong Fr- MuLV-U3 or the housekeeping hPGK.We could identify a specific combination of insulator 2 repeats which translates into best functional activity, high titers and boundary effect in both gammaretro and lentivectors. In target cells a dramatic shift of expression is observed with an homogenous profile the level of which strictly depends on the promoter strength. These data remain stable in both HeLa cells over three months and cord blood HSCs for two months, irrespective of the multiplicity of infection (MOI). In comparison, control native and SIN vectors expression levels show heterogeneous, depend on the MOI and prove unstable. We have undertaken genotoxicity assessment in comparing integration patterns ingenuity in human target cells sampled over three months using high-throughput pyro-sequencing. Data will be presented. Further genotoxicity assessment will include in vivo studies. We have established insulated vectors which harbour both boundary and enhancer-blocking effect and show stable in prolonged in vitro culture conditions. Work performed with support of EC-DG research FP6-NoE, CLINIGENE: LSHB-CT-2006-018933

Hidrocolpo por ectopia ureteral em hemivagina associado a displasia renal: relato de caso e revisão da literatura

Os autores apresentam um caso de displasia renal associada a ectopia ureteral vaginal homolateral, com uretero-hidronefrose contralateral devida a compressão por hidrocolpo causado pela ectopia e por um septo vaginal oblíquo. Os exames de imagem utilizados foram urografia excretora, cistografia, ultra-sonografia, tomografia computadorizada e cintilografia renal com Tc-99m-DMSA. Foi realizada revisão da literatura sobre casos de hidrocolpo associado a malformações urinárias.

De calore in foco lentis convexae

Dedicatio: Nicolaus Aejmelaeus.

Comparatio caloris in foco lentis convexae et speculi concavi

Arkit: A4.

Freqüência da infecção pelo papilomavírus humano em mulheres com ectopia cervical

RESUMO Objetivo: fatores como múltiplos parceiros sexuais, idade, início precoce da atividade sexual, fumo e uso de anticoncepcional oral (ACO) têm sido relacionados com a maior incidência de infecção pelo papilomavírus humano (HPV). A presença de ectopia cervical também tem sido relacionada, embora com resultados contraditórios. O objetivo deste é analisar um grupo de mulheres com infecção pelo HPV e verificar a incidência de ectopia cervical. Métodos: foram estudadas 471 mulheres com diagnóstico de infecção pelo HPV por meio da citologia (critério de Schneider et al.) e a relação com a ectopia cervical, uso de ACO e a sexarca. Resultado: dos 471 casos estudados, 182 (38,6%) apresentavam ectopia. Das 182 pacientes com ectopia, 157 (86,3%) tinham idade igual ou inferior a 30 anos, ao passo que 47,8% das pacientes sem ectopia pertenciam a esse grupo etário (p<0,001). Quanto ao início da atividade sexual, não houve diferença significante entre os grupos: das pacientes com ectopia, 77,4% tinham 18 anos ou menos, em comparação com 71,3% no grupo sem ectopia. Dos casos com ectopia, 45,7% estavam em uso de ACO, enquanto apenas 24,3% das pacientes sem ectopia utilizavam esse método (p<0,001). Conclusões: conclui-se que a ectopia não está associada à sexarca e a prevalência de ectopia nas pacientes com HPV foi maior no grupo com menos de 30 anos e/ou em uso de ACO.

Ectopia renal cruzada com fusão: relato de dois casos e revisão da literatura

Ectopia renal é uma das mais comuns anormalidades de desenvolvimento renal. Contudo, somente poucos casos de ectopia renal cruzada com fusão têm sido relatados na literatura. Ectopia renal cruzada, geralmente, é uma entidade clinicamente silenciosa, mas algumas vezes complica com infecção urinária de repetição e nefrolitíase e pode ser associada com uma alta incidência de obstrução da junção ureteropélvica, refluxo vesicoureteral e displasia renal multicística. Os autores relatam dois novos casos de ectopia renal cruzada com fusão diagnosticados em um contexto de infecção urinária e nefrolitíase e fazem uma revisão dos mecanismos e características clínicas desta anormalidade. O nefrologista deve estar familiarizado com esta alteração do desenvolvimento renal, uma vez que muitas complicações podem ocorrer durante o seguimento destes pacientes.

Antifungal activity of Bacillus subtilis filtrate to control Fusarium oxysporum f.sp. lentis, the causal organism of lentil vascular wilt

In dual cultures, the supernatant filtrate of the biological control agent Bacillus subtilis was evaluated against (Fusarium oxysporum f.sp. lentis) the causal organism of lentil vascular wilt. The antagonistic activity was evaluated as percent reduction of fungal growth (certainly due, in part, to the antifungal metabolites produced by the antagonistic bacterium). The in-vitro experiments showed that B. subtilis filtrate, whether solid or liquid media, had a strong inhibiting activity on the spore germination and mycelial growth of F. oxysporum f. sp. lentis. In a glasshouse experiment, soil was drenched with B. subtilis filtrate at 30 ml/kg (vol/wt) around seedlings of a susceptible lentil line (ILL 4605). In this treatment there was only 31% mortality compared with 100% kill of plants in the control treatment (P≤0.05).

Formulation and delivery of the bacterial antagonist Bacillus subtilis for management of lentil vascular wilt caused by Fusarium oxysporum f. sp lentis

Different formulations of Bacillus subtilis were prepared using standard laboratory protocols. Bacillus subtilis survived in glucose and talc powders at 8.6 and 7.8 log(10) CFU/g, respectively, for 1 year of storage at room temperature compared with 3.5 log(10) CFU/g on a peat formulation. Glasshouse experiments using soil and seed treatments were conducted to test the efficacy of B. subtilis for protecting lentil against the wilt disease caused by Fusariumoxysporum f. sp. lentis. Seed treatments with formulations of B. subtilis on glucose, talc and peat significantly enhanced its biocontrol activity against Fusarium compared with a treatment in which spores were applied directly to seed. The formulations decreased disease severity by reducing colonization of plants by the pathogen, promoting their growth and increased the dry weight of lentil plants. Of these treatments the glucose and talc-based powder formulations were more effective than the peat formulation and the spore application without a carrier. It was shown that the B. subtilis spores applied with glucose were viable for longer than those applied with other carriers. Seed treatment with these formulated spores is an effective delivery system that can provide a conducive environment for B. subtilis to suppress vascular wilt disease on lentil and has the potential for utilization in commercial field application.

Intestinal atresia and ectopia in a bovine fetus

A 2-year-old Red Holstein cow was presented with uterine torsion at 235 days of pregnancy. The fetus extracted by cesarean section had weak vital signs and marked abdominal distention. An edematous pouch that contained tubular structures with peristaltic activity was associated with the umbilical cord. Because of poor prognosis, both dam and fetus were euthanized. At necropsy, the fetus had severe distention of the forestomachs, abomasum, and proximal small intestine; absence of distal small intestine, cecum, and proximal colon; atresia of the 2 blind ends of the intestine; and atrophy of distal colon and rectum. The tubular structures associated with the umbilical cord were identified as the segments of intestine that were absent in the fetus. Intestinal atresia combined with ectopia may be caused by local ischemia during temporary herniation and rotation of the fetal gut into the extraembryonic coelom. The close connection between ectopic intestine and amniotic sheath of the umbilical cord in this case may have facilitated vascularization and allowed development and viability of the ectopic intestine.

Exerc[itati]o XXXXV : I. Qua cura atte[n]tus generosusq[ue] medicus uti debeat in variolaru[m] partiu[m] oris praeservatione curationeq[ue] ... 2. Lentis alterum decoctum multiplex priscumque auxilium esse ... 3. Praesentibus variolis clysteribus lenientibus praecipue opus esse .../

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