Improving Prenatal Diagnosis of Coarctation of the Aorta

Background

The purpose of the study was to evaluate the association between fetal echocardiographic measurements and the need for intervention (primary coarctation repair, staged coarctation repair, or catheter intervention) in prenatally diagnosed coarctation of the aorta.

Oxyhemoglobin changes in the prefrontal cortex in response to cognitive tasks: a systematic review

Purpose of the study: the aim of this study was to synthesize PFC fNIRS outcomes on the effects of cognitive tasks compared to resting/baseline tasks in healthy adults from studies utilizing a pre/post design.

Material and methods: original research studies were searched from seven databases (MEDLINE, EMBASE, CENTRAL, CINAHL, SCOPUS, PEDro and PubMed). Subsequently, two independent reviewers screened the titles and abstracts followed by full-text reviews to assess the studies' eligibility.

Results: eleven studies met the inclusion criteria and had data abstracted and quality assessed. Methodology varied considerably and yet cognitive tasks resulted in the ΔO₂Hb increasing in 8 of the 11 and ΔHHb decreasing in 8 of 8 studies that reported this outcome. The cognitive tasks from 10 of the 11 studies were classified as “Working Memory” and “Verbal Fluency Tasks”.

Conclusions: although, the data comparison was challenging provided the heterogeneity in methodology, the results across studies were similar.     

History of Articulators: Henry L. "Harry" Page and the Transograph

The intention of this article is to introduce the reader to the Transograph from a historical perspective. The technical data presented are intended to help the reader understand the design of this unique instrument and how it was programmed, but will not provide the reader a thorough understanding of this philosophy. The article seeks neither to defend nor criticize the principles of Transographics.     

A De Novo novel mutation of the EDNRB gene in a Taiwanese boy with Hirschsprung disease.

Hirschsprung disease (HSCR) is a congenital disorder characterized by an absence of ganglion cells in the nerve plexuses of the lower digestive tract. Although mutations in eight different genes (EDNRB, EDN3, ECE1, SOX10, RET, GDNF, NTN, SIP1) have been identified in affected individuals, it is now clear that RET and EDNRB are the primary genes implicated in the etiology of HSCR. All eight genes are involved in the early development of the enteric nervous system, and most act through two distinct biochemical pathways mediated by RET and EDNRB. Mutations in RET and EDNRB account for up to 50% and 5% of HSCR cases in the general population, respectively. Interaction between these two signaling pathways could modify RET expression and, therefore, HSCR phenotype. Here, we report the case of a 1-year-old Taiwanese boy who presented with abdominal distension since birth and bilious vomiting after feeding. HSCR (short-segment type) was diagnosed based on X-ray, lower gastrointestinal series and biopsy findings. Mutation analysis revealed a heterozygous T>C missense mutation in exon 1 of the EDNRB gene, that substitutes the highly conserved cysteine-90 residue in the extracellular domain of the G protein-coupled receptor with an arginine residue (C90R). No RET gene mutation was detected in this patient.     

Growth and development in rats and deficiency of magnesium and pyridoxine

Eight-eight female weanling Sprague-Dawley rats were fed diets containing either 650 or 150 mg magnesium/kg diet and 7.0 or 3.5 mg pyridoxine-HCl/kg diet, in a 2 x 2 factorial arrangement, during growth, gestation, and lactation. The objective of the study was to determine whether concurrent dietary deficiencies of magnesium and pyridoxine were synergistic, additive, or antagonistic with regards to effects on reproductive performance, growth, and development of offspring, and tissue content of magnesium and calcium. Body weight of dams and pups was not different between groups until day 9 of lactation, at which point those animals in either low magnesium group weighed less than the other. Litter size and birth weight were not different. Development, as measured by timing of unfolding of the external ear, opening of both eyes, and clinical emergence of incisors, was delayed in pups from litters in the low magnesium groups. A synergistic effect on delay of onset of ear unfolding by deficiency of both magnesium and pyridoxine was observed. Calcium content of heart and kidney from dams was increased in the low magnesium groups. Renal calcium was not further increased by the level of pyridoxine deficiency in this study. The calcium to magnesium ratio in heart from pups was higher in those from litters in the low magnesium and pyridoxine group than in the others. Results indicate that simultaneous deficiencies of magnesium and pyridoxine may impair function synergistically. Because these two nutrients are often reported to be presented in inadequate amounts in diets of women in their reproductive years, the potential exists for impaired reproductive success.     

Treatment of the Breast’s Lateral Pole: Adjuvant Maneuver to Pitanguy’s Technique

Surgical procedures for the mammary region currently are assuming an important role in body-contouring surgery. Enhancement of results is a constant challenge to the plastic surgeon. A simple and efficient maneuver for resection of the breast’s lateral pole based on the mammoplasty technique of Professor Ivo Pitanguy is described. This study realized at the Private Clinic Sérgio Carreir?o, Rio de Janeiro, RJ, Brazil.     

Autoimmune-mediated sympathetic hearing loss: a case report.

BACKGROUND: Damage to one inner ear is occasionally followed by contralateral sensorineural hearing loss. This has been defined as sympathetic hearing loss. HYPOTHESIS: It is hypothesized that autoimmunity can play a role in the pathogenesis of sympathetic hearing loss. METHODS: A male patient who developed right-sided sympathetic hearing loss at 20 years of age, 11 years after deafness of the left ear caused by a temporal bone fracture, is described. The patient's serum was analyzed for the presence of autoantibodies against inner ear tissues by immunocytochemistry and Western blotting using rat inner ear tissues. The patient's serum was tested specifically for antibodies against heat shock protein 70 by immunodot blot. The presence of autoantibodies known to play a role in systemic autoimmune disease was also examined. RESULTS: Immunocytochemistry on rat temporal bone sections demonstrated autoantibodies in the patient's serum specifically targeted against cochlear outer hair cells. No reactivity of the patient's serum was observed with control tissues including kidney, brain, and liver. Western blotting using homogenized rat cochlear tissues showed that the patient's serum reacted with a 25- and 27-kDa protein. No reactivity was observed with heat shock protein 70 in the immunodot blot analysis. The patient's serum did not contain autoantibodies against antinuclear antibodies, double-stranded DNA, antineutrophil cytoplasmic antibodies, basement membrane, reticulin, intestinal mucosa, muscle, collagen, or mitochondria. CONCLUSION: Observations indicate that this patient suffered sympathetic hearing loss caused by organospecific autoimmunity directed to cochlear outer hair cells.     

Recognition Impairment Correlated with Short Bisynchronous Epileptic Discharges

The occurrence of transitory cognitive impairment during diffuse subclinical electroencephalographic (EEG) discharges has been widely documented but the role of the parameters influencing the cognitive performance and the involvement of motor or verbal response in the tasks used is still under debate. Fifteen patients suffering from primary generalized epilepsy with frequent bisynchronous EEG epileptic bursts underwent a shape recognition task during EEG monitoring. The test sequence was as follows: memorandum, pause, and multiple choice set. After pressing the response button, the patient was asked to confirm the choice verbally. The following parameters were considered: geometrical complexity of the shape, chronological position of the burst occurring during the single test, and the duration of discharge ranging from 1 to 3 s. Results showed a significant increase in incorrect responses during the test when discharges occurred, with more errors occurring for difficult than for easy shapes. Neither the discharge position nor the duration of the epileptic burst influenced the performance. Diffuse epileptic activity of short duration produced selective effects on the cognitive process regardless of the motor component of the response.     

Epilepsy syndromes associated with hypothalamic hamartomas.

PURPOSE: Hypothalamic hamartoma (HH) related epilepsy presents with gelastic seizures (GS), other seizure types and cognitive deterioration. Although seizure origin in GS has been well established, non-GS are poorly characterized. Their relationship with the HH and cognitive deterioration remains poorly understood. We analyzed seizure type, spread pattern in non-GS and their relationship with the epileptic syndrome in HH. METHODS: We documented all current seizure types in six adult patients with HH-epilepsy with video-EEG monitoring, characterized clinical-electrographic features of gelastic and non-gelastic seizures and correlated these findings with cognitive profile, as well as MRI and ictal SPECT data. RESULTS: Only four seizure types were seen: GS, complex partial (CPS), tonic seizures (TS) and secondarily generalized tonic-clonic seizures (sGTC). An individual patient presented either CPS or TS, but not both. GS progressed to CPS or TS, but not both. Ictal patterns in GS/TS and in GS/CPS overlapped, suggesting ictal spread from the HH to other cortical regions. Ictal SPECT patterns also showed GS/TS overlap. Patients with GS-CPS presented a more benign profile with preserved cognition and clinical-EEG features of temporal lobe epilepsy. Patients with GS-TS had clinical-EEG features of symptomatic generalized epilepsy, including mental deterioration. CONCLUSIONS: Video-EEG and ictal SPECT findings suggest that all seizures in HH-related epilepsy originate in the HH, with two clinical epilepsy syndromes: one resembling temporal lobe epilepsy and a more catastrophic syndrome, with features of a symptomatic generalized epilepsy. The epilepsy syndrome may be determined by HH size or by seizure spread pattern.     

133Granulation Tissue Induction by Lassar Ointment vs. Collagen‐Polyvynilpyrrolidone in Venous Ulcers

Venous leg ulcers derived from tissue destruction is the consequence of a chronic inflammatory process that produces pain and physical disability, diminishing quality of life in patients. In this work, Lassar ointment and lyophilized collagen‐polyvinylpyrrolidone were administered separated each on one half in the same ulcer to 9 patients at the beginning and every 4 days. On day 16, all patients were auto‐grafted with partial thickness skin. Granulation tissue and graft integration were assessed clinically during 3 months. Inflammatory infiltrate, type I and III collagens, elastic fibers, alkaline phosphatase as well as blood vessels were evaluated histologically or histochemically in biopsies taken at the beginning and 16 days after the local treatment. Clinically and morphologically, both treatments demonstrated appropriate granulation tissue promotion and optimal graft integration since the beginning. Nevertheless, in Lassar ointment treated group regionalization of alkaline phosphatase activity was observed, as well as the presence of granuloma in 2 of the 9 patients. In conclusion, Lassar ointment or lyophilized collagen‐polyvinylpyrrolidone are two different promoters of granulation tissue in venous leg ulcers, however Lassar ointment has the capability to produce granuloma and an exacerbated immune response; in consequence, ulcer recidivism could be present, may be due to mineral deposits in the wound.