Congenital hydrocephalus and L1 disease: a case report (2009: 7b)

L1 disease is the most common genetic cause of congenital hydrocephalus. Mutations in the L1CAM gene are associated with an overlapping clinical spectrum of four X-linked neurological conditions, characterized by hydrocephalus, mental retardation, lower limb spasticity and adducted thumbs. Brain anomalies are frequently present in L1 disease. We describe these anomalies by reporting a case of a male newborn presenting with congenital hydrocephalus along with corpus callosum agenesis and enlargement of the massa intermedia. These findings, in association with the presence of clasped thumbs, raised the suspicion of L1 disease, which was confirmed by the detection of a mutation in the L1CAM gene. In cases of congenital hydrocephalus, recognition of the brain anomalies associated with L1 disease may contribute to pursuing the genetic analysis needed for the diagnosis and genetic counseling.     

A cross-sectional survey of patients' beliefs about stress and their help-seeking behaviour

BACKGROUND: Stress has become an increasingly common presentation in general practice. This may relate to an increase in stress in people's lives or a change in the meaning of stress and its conceptualisation as a legitimate problem for the GP. AIM: To explore patients' beliefs about stress, their association with help-seeking behaviour, and to examine differences by ethnic group. DESIGN OF STUDY: Cross-sectional survey of general practice patients attending to see their GP. SETTING: An inner-city London practice. METHOD: Consecutive general practice patients completed a questionnaire, which involved rating a series of symptoms for the extent to which they were associated with stress and describing their help-seeking behaviour. In total, 548 patients completed the questionnaire. Most patients described themselves as black Caribbean (n = 163), black African (n = 48), or white British (n = 187). RESULTS: The symptoms most frequently associated with stress were sleeping problems, feeling depressed, feeling panicky, having high blood pressure and feeling anxious; feeling ashamed, experiencing indigestion, having diarrhoea, feeling hot or cold, and suffering from constipation were least commonly associated to stress. This model of stress did not vary by ethnic group. Ethnic group differences were found for the association between the model of stress and help-seeking behaviour. Although white British patients consistently reported that the more a symptom was seen as indicative of stress, the more likely they would be to visit the doctor for that symptom, this association was not found for either black Caribbean or black African patients. CONCLUSIONS: The belief that stress-related symptoms are a legitimate problem for the GP is not universal and varies according to ethnic group. Stress is used by different patients in different ways and offers a variable pathway to the doctor.     

Determinants of left ventricular systolic function recovery after an acute coronary syndrome.

INTRODUCTION: Ischemic heart disease is a major cause of heart failure in western societies. However, the factors that may influence left ventricular function (LVF) recovery after an acute coronary syndrome (ACS) are still unclear. OBJECTIVE: To identify variables that may influence LVF evolution one year after ACS. METHODS: 104 patients hospitalized with ACS between 7/1/2001 and 12/31/2002 and with systolic dysfunction--defined as an echocardiographic ejection fraction (EF) < or = 45%--were randomly allocated to a planned coronary follow-up program (FUP) or a general cardiology clinic (GC); patients from both groups were also randomly referred to a structured cardiac rehabilitation program (CRP). EF was re-assessed at one year. We compared differences between patients who recovered left ventricular function (EF > 45%; group 1) and those who did not (group 2). RESULTS: One year after discharge, 44.2% of the patients had recovered function. There were no significant differences between the groups in gender (77.7 vs. 76.5% male), age (56 vs. 59 years), hypertension, diabetes, dyslipidemia, smoking habits or family history. A previous history of cardiovascular events was more frequent in group 2 (11.1% vs. 35.3%, p = 0.03). Cardiac catheterization was performed before discharge in 88.8% and 88.2% in groups 1 and 2 respectively (p = NS); no differences were found in coronary anatomy between the two groups. Angioplasty was performed in 54.2% in group 1 and 50% in group 2 (p = NS). There were no differences in the use of angiotensin-converting enzyme inhibitors (83.3% vs. 87.5%), beta-blockers (87.5% vs. 87.5%), nitrates (37.5% vs. 33.3%), aspirin (95.8% vs. 95.8%), statins (79.1% vs. 75%) or diuretics (20.8% vs. 45.8%). There was no significant difference in LVF recovery between patients randomized to FUP or GC (38.5% vs. 54.5%). 87.5% of patients who completed the CRP had normal EF at one year compared to 32.7% of patients not referred to the program (p = 0.009). Although EF improved in both groups, this improvement was greater in patients who completed a CRP (EF 8% vs. 5%, p = 0.003). CONCLUSION: A previous cardiovascular event and completion of a CRP were the only variables that influenced LVF recovery. Thus, enrollment in a CRP, in addition to standard therapy, could be an important therapeutic measure in patients with systolic dysfunction after ACS; our data suggest that these programs should be more widely used.     

Evaluation of tissue response to MTA and Portland cement with iodoform.

OBJECTIVE: The aim of this study was to evaluate the biocompatibility of Portland cement with the addition of iodoform, compared to MTA (ProRoot). STUDY DESIGN: Eighteen Wistar albino rats were divided into 3 groups of 6 animals each. Polyethylene tubes were filled either with freshly mixed MTA or Portland cement mixed with iodoform (20% wt/wt) and implanted subcutaneously. An empty tube served as control. After 7, 30, or 60 days, the implants together with the surrounding tissues were removed in blocks. Sections were evaluated for the presence and thickness of a fibrous capsule, presence of granulation tissue, and the severity of inflammatory response. Data were submitted to nonparametric statistical analysis with individual comparisons between groups at a significance level of P < 0.05. RESULTS: There were no differences between inflammatory responses at 7 and 30 days. After 60 days from surgical removal, there was significantly more tissue reaction to the MTA and Portland cement compared to the control group. CONCLUSION: There were no significant differences regarding inflammatory responses between MTA and Portland cement with iodoform after 7, 30, or 60 days. After 60 days, the fibrous capsule around the Portland cement appeared more organized than tissue surrounding MTA implants. After 60 days, there was still a significantly increased tissue reaction to the 2 cements compared to the empty polyethylene tubes.     

Parvalbumin-immunoreactive neurons in the cerebral cortex of the lizardPodarcis hispanica

An antibody against the calcium binding protein parvalbumin selectively labels a set of neurons in the cerebral cortex of lizards. Golgi-like immunostained bipolar, multipolar and pyramid-like neurons appear mainly located in the inner plexiform layers. Parvalbumin-immunoreactive (PARV-IR) puncta are concentrated in the cell layer of the dorsal and dorsomedial cortices showing a basket-like distribution. The morphology and distribution of PARV-IR neurons and puncta overlap GABA-immunostaining in the cerebral cortex of lizards. Thus, it is likely that PARV-IR neurons are a subset of the cortical GABAergic neurons of lizards.     

Gastrogastric fistula: a possible complication of Roux-en-Y gastric bypass.

BACKGROUND: Gastrogastric fistula is a communication between the proximal gastric pouch and the distal gastric remnant, rarely described in the realm of bariatric procedures. The aim of this study was to review the existing literature about this topic and to demonstrate its laparoscopic treatment. METHODS: An extensive literature review found several articles reporting this complication. However, no citation was found describing the steps of the laparoscopic management of this situation. RESULTS: Gastrogastric fistula occurs in up to 6% of Roux-en-Y gastric bypasses. Two theories exist for fistula formation: (1) it is a technical complication derived from the incomplete division of the stomach during the creation of the pouch, and (2) it occurs after a staple-line failure, developing a leak with an abscess, which then drains into the distal stomach forming the fistula. Early symptoms include fever, tachycardia, and abdominal pain. Failure in weight loss is a late clinical sign observed in these patients. Diagnosis is based on radiologic study, upper endoscopy and computed tomography. When identified in the acute postoperative course, laparoscopic treatment is easy. Chronic fistulas are difficult to manage, and the laparoscopic approach is an alternative to open surgery. CONCLUSIONS: Gastrogastric fistula is a possible complication of Roux-en-Y gastric bypass and its laparoscopic treatment is feasible.