Bipedicled distally based medial plantar artery perforator flap for forefoot reconstruction: A case report.

Reconstruction of soft-tissue defects in the foot weight-bearing area should encompass sensate and robust skin. Regarding forefoot defects, distally based medial plantar artery (MPA) flap is an ideal option. However, considering variation of the terminal branches of the MPA, reverse flow flaps can be unreliable with an increasing risk of venous congestion or insufficient arterial flow.

The expanding clinical and genetic spectrum of ATP1A3-related disorders.

Objective: We aimed to delineate the clinical and genetic spectrum of ATP1A3-related disorders and recognition of a potential genotype-phenotype correlation.

Methods: We identified 16 new patients with alternating hemiplegia of childhood (AHC) and 3 new patients with rapid-onset dystonia-parkinsonism (RDP) and included these as well as the clinical and molecular findings of all previously reported 164 patients with mutation-positive AHC and RDP in our analyses.

Results: Major clinical characteristics shared in common by AHC and RDP comprise a strikingly asymmetric, predominantly dystonic movement disorder with rostrocaudal gradient of involvement and physical, emotional, or chemical stressors as triggers.

Post-transplantation encapsulating peritoneal sclerosis in a pediatric patient.

Background: Encapsulating peritoneal sclerosis (EPS) is a serious complication of long-term peritoneal dialysis (PD), but only a few cases have been described in the pediatric patient population. There is no established medical treatment, and surgery has been reported with variable success. The number of reports of EPS being successfully treated with tamoxifen, based on its anti-fibrotic effects, are increasing.

Patients' satisfaction with diagnostic drug provocation tests and perception of its usefulness.

Background And Aim: Although still controversial, drug provocation tests (DPTs) are considered by many as the gold standard for diagnosis of drug hypersensitivity. No studies have addressed the opinion of patients submitted to DPT. We aimed to determine patient satisfaction with diagnostic DPT and their perception of its usefulness.

Erythropoiesis versus inflammation in Hereditary Spherocytosis clinical outcome.

Objectives: This study aimed to evaluate the relationship between erythropoiesis and inflammation, in Hereditary Spherocytosis (HS) clinical outcome.

Design And Methods: We studied 26 controls and 82 HS patients presenting mild (n = 49) and severer (n = 33) HS forms. We evaluated plasma levels of EPO, sTfR, ferritin, iron, folic acid, vitamin B12, TNF-α, IFN-γ, elastase and lactoferrin; leukocyte and reticulocyte counts and RPI were determined.

Variant Creutzfeldt-Jakob disease: the first confirmed case from Portugal shows early onset, long duration and unusual pathology.

We present clinical and autopsy findings in the first case of variant Creutzfeldt-Jakob disease diagnosed and confirmed in Portugal. Onset was at 11 years, the earliest onset reported, and the course (32 months) relatively long. Western blot showed protease resistant prion protein, mainly of type 4 (2B) isoform.

[The treatment of vesicoureteral reflux].

Objectives: Vesicoureteral reflux (VUR) is a frequent pathology, with an incidence of 29/50% in children studied for urinary tract infection (UTI) and 20% of newborns with the diagnosis of prenatal hydronephrosis. Over the years, the treatment has been the subject of many meetings, many research studies, and continues being a topic under discussion. The number of candidates for surgical treatment increased with the development of minimally invasive endoscopic techniques by subureteral injection of bulking agents.

[Goldenhar syndrome associated to posterior urethral valves].

Objective: To report a case with Goldenhar syndrome with posterior urethral valves.

Methods: Goldenhar syndrome (oculoauriculovertebral dysplasia) is a condition featuring the following triad of anomalies: ocular abnormalities (epibulbar dermoids, coloboma), otic anomalies (low set ears, auricular appendage) and/or vertebral anomalies. Multiple malformations, including congenital heart, brain and renal disease.

Self-reported drug allergy in a general adult Portuguese population.

Aim: To estimate the prevalence of self-reported drug allergy in adults.

Methods: Cross-sectional survey of a general adult population from Porto (all of whom were living with children involved in the International Study of Asthma and Allergies in Childhood-phase three), during the year 2002, using a self-administered questionnaire.

Results: The prevalence of self-reported drug allergy was 7.

Cervical aortic arch and 22q11 deletion--the role of MRI in diagnosis.

Aortic arch anomalies are relatively common, occurring in 0.5-3% of the population. In recent years, they have been recognized as being among the cardiovascular malformations found in chromosome 22q11 deletion.

[Glucose-6-phosphate dehydrogenase deficiency, neonatal hyperbilirubinemia and Gilbert syndrome].

The aim of this work was to evaluate the influence of abnormal UDP-glucoronosyltransferase-1 (UGT1A1) gene variant, on the incidence and severity of neonatal hyperbilirubinemia, in glucose-6-phosphate dehydrogenase (G6PD) deficient newborns. The A(TA)nTAA region in the promoter of the UGT1A1 gene was analysed in 20 children with G6PD deficiency. Fourteen of these children had the African type variant (G6PDA-) and 6 had different variants (G6PDNara, G6PDGuadalajara, G6PDDurham, G6PDTomah, G6PDAveiro e G6PDNashville) related to chronic nonspherocytic haemolytic anaemia (CNSHA).

[Dysgenetic male pseudohermaphroditism].

Dysgenetic male pseudohermaphroditism is the result of a defect of testis development that encompasses a large clinical heterogeneity. It is characterized by bilateral dysgenetic testis, absence of mullerian regression, ambiguous genitalia and/or stigmata of Turner's syndrome in the majority of the cases. Typically, these individuals have either a 46,XY or 45,X/46,XY karyotype.

[Other indications for surfactant].

Objective: The introduction of surfactant replacement therapy in the management of respiratory distress syndrome in the premature infant was a remarkable advance in neonatal intensive care. In the last few years, recognition of the role played by surfactant inactivation in the pathogenesis of other respiratory diseases of the newborn has justified new therapeutic applications. The aim of this study was to evaluate the efficacy of treatment with natural exogenous surfactant in situations with secondary surfactant deficiency.

[Cervical spondylodiscitis in an infant].

Spondylitis in childhood is rare, presenting a great variety of symptoms that are related to the child s age and to the site of the inflammatory process. We present the case of a nine-month-old infant, who presented to the emergency department with a torticollis of six weeks evolution. The diagnosis of spondylitis (C6-C7) was confirmed by MRI.

Divided left atrium associated with supravalvar mitral ring.

Reported is a case with a rare association of divided left atrium, supramitral stenosing ring of the left atrium, connection of the left superior caval vein to the roof of the left atrium, unroofed coronary sinus with an interatrial communication at the mouth of the unroofed sinus and ventricular septal defect. The need for a complete echocardiographic examination in the presence of pulmonary venous obstruction is emphasized. Surgery was successful in spite of significant preoperative pulmonary hypertension.

[Brain stem ischemia in a boy with resistance to C activated protein and elevated lipoprotein A].

Introduction: Activated protein C resistance is the most common hereditary coagulation abnormality. In the majority of cases it results from a point mutation Arg506-->Gln of the factor V gene, and characterized by a poor anticoagulant response to activated protein C.

Clinical Case: We report the clinical case of a 6-year-old obese boy, who presented with acute hemiparesis.

Sialuria in a Portuguese girl: clinical, biochemical, and molecular characteristics.

Sialuria, a disorder of sialic acid (NeuAc) metabolism characterized by increased free NeuAc in the cytoplasm of cells, is due to failure of CMP-Neu5Ac to feedback inhibit UDP-N-acetylglucosamine (UDP-GlcNAc) 2-epimerase. We now describe the fifth patient in the world with sialuria, a 7-year-old Portuguese girl with developmental delay, hepatomegaly, coarse facies, and urinary excretion of 19 micromol of free NeuAc/mg creatinine. The patient's fibroblasts stored excess free NeuAc in the cytosolic fraction, and fibroblast UDP-GlcNAc 2-epimerase activity was only 26% inhibited by 100 microM CMP-Neu5Ac (normal, 79%).

Pontocerebellar hypoplasia with microcephaly and dyskinesia: report of two cases.

We present two clinically diagnosed cases of pontocerebellar hypoplasia with microcephaly and dyskinesia (pontocerebellar hypoplasia type 2) from two different Portuguese families. Both children presented neurological involvement from birth, progressive microcephaly, exuberant chorea and dystonia, myoclonic jerks, pontocerebellar hypoplasia, and progressive cerebral cortical atrophy. One child had consanguineous parents.

Acute gastric volvulus and congenital posterolateral diaphragmatic hernia.

Acute gastric volvulus in infancy is a rare disorder and a surgical emergency. Prompt clinical suspicion and radiological assessment are essential for this life-threatening condition. We report a 3-month-old female case, admitted for an initial suspicion of an intestinal obstruction.