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.     

Adequacies of skin puncture for evaluating biochemical and hematological blood parameters in athletes.

OBJECTIVE: The authors tested the effect of blood sampling (skin versus venous puncture) on some biochemical and hematological blood parameters in athletes to answer whether skin puncture could be used as a substitute for venous puncture. DESIGN: Comparative study of 2 methods of blood samples collection. SETTING: The blood was collected in the same athletes at 3 different moments of the preparatory training phase. PARTICIPANTS: Fourteen male indoor soccer players (22 +/- 1 years old) and 7 female handball players (18 +/- 1 years old) participated. MAIN OUTCOME MEASUREMENT: Blood was collected in heparin and K3EDTA by Vacutainer BD or Microvette Sarstedt system for biochemical and hematological analyses, respectively. RESULTS: There were no significant statistical differences between the 2 methods for the values of creatine kinase, urea, creatinine, lymphocytes, and platelets. The other hematological analyzes and uric acid exhibited significant higher values in skin blood, although they were all within the normal expected range. A high degree of correlation was observed between the 2 techniques for all parameters. CONCLUSIONS: Skin puncture is a reliable, easy, accurate, and less invasive sampling method for assessing hematological and some biochemical parameters in athletes, respecting that blood samples should always be obtained from the same site, especially in follow-up studies.     

Triterpenoid saponins, new metalloprotease snake venom inhibitors isolated from Pentaclethra macroloba.

We report here the antiproteolytic and antihemorrhagic properties of triterpenoid saponin inhibitors, named macrolobin-A and B, from Pentaclethra macroloba, against Bothrops snake venoms. The inhibitors were able to neutralize the hemorrhagic, fibrin(ogen)olytic, and proteolytic activities of class P-I and P-III metalloproteases isolated from B. neuwiedi and B. jararacussu venoms. Clotting and fibrinogenolytic activities induced by snake venoms and isolated thrombin-like enzymes were partially inhibited. Furthermore, the potential use of these inhibitors to complement antivenom therapy as an alternative treatment and/or used as molecular models for development of new therapeutical agents in the treatment of snake bite envenomations needs to be evaluated in future studies.     

Factors leading to long-term hospitalization after laparoscopic appendectomy.

BACKGROUND: Randomized studies demonstrate that laparoscopic appendectomy yields better results compared with open techniques. We sought to identify factors that determine an extended hospital stay among patients undergoing laparoscopic appendectomy. METHODS: This was a prospective study including 669 patients undergoing laparoscopic appendectomy. We analyzed variables that can predict the length of hospital stay. RESULTS: Of 669 patients undergoing laparoscopic appendectomy, 141 stayed in the hospital for > or = 5 days (Group 1), and 97 stayed in the hospital for < or = 1 day after surgery (Group 2). The univariate analysis demonstrated that fever (P<0.0001), nausea and vomiting (P=0.060), leukocytosis (P<0.0001), gangrened or perforated intraoperative appearance of the appendix (P<0.0001), and appendix position behind the ileocecal junction (P<0.001) were related to a longer hospital stay. The multivariate analysis through logistical regression showed that the factors independently and significantly associated with an extended hospital stay were presurgical fever, appendix position behind the ileocecal junction, and intraoperative gangrened or perforated appearance of the appendix. CONCLUSION: Fever, appearance, and position of the appendix are factors related to an extended hospital stay.     

Right atrial aneurysm: case report.

We report the case of a 49-year-old patient, with recent onset of fatigue, who was diagnosed with atrial fibrillation, which was cardioverted electrically. A diagnosis of right atrial aneurysm, with no other cardiac pathology, was made. An aneurysmectomy was performed. Both surgery and postoperative recovery were uneventful.     

Determination of HPGe detector response using MCNP5 for 20-150 keV X-rays.

The Monte Carlo method was used to calculate the efficiency, escape and Compton curves of a planar high-purity germanium detector (HPGe) in the 20-150 keV energy. These curves were used for the determination of photons spectra produced by an X-ray machine in order to allow a precise characterization of photon beams applied to medical diagnosis. The detector was modeled with the MCNP5 computer code and validated by comparison with experimental data. The air kerma calculated after the spectra stripping was compared with ionization chamber measurements.     

Characteristics of Acute Asthma Patients Attended Frequently Compared with Those Attended Only Occasionally in an Emergency Department

Asthma patients that depend on emergency department (ED) services are generally considered to have extremely poor disease control and prognosis. It is important to identify characteristics related to poor disease control and frequent visits to the ED to apply appropriate clinical management. This study comprised a cross-sectional survey of consecutive patients with asthma exacerbation (age ≥12 years) presenting at the adult ED of a large, tertiary care, university-affiliated hospital over a 2-month period. The frequent visitors (FV) were defined by ≥3 visits to the ED in the preceding year, and the occasional visitors (OV) by ≤2 visits. Eighty-six patients (61 females and 25 males) were included in the study (mean age 38 ± 18 years). Of these patients, 51.2% were FV and 48.8% were OV. Sixty-nine percent had annual income lower than A$3000 and 66.3% had ≤8 years of the formal education. Only 18.6% had used inhaled corticosteroids, 79.1% identified the asthma attack severity, 70.9% increased or initiated inhaled β-agonist, 20.9% increased or initiated steroid therapy, and 55.8% had an asthma action plan for attack. The number of hospital admissions in past year (OR 4.3, P = .02), use of home nebulizer (OR 3.6, P = .05) and the lack of a written asthma action plan (OR 3.3, P = .03) were independently associated with frequent visits to the ED. We conclude that a substantial proportion of the patients that visit the ED are FV. These patients are more likely to have hospital admission in the past year, to use a home nebulizer, and to lack a written asthma action plan. They should be considered the most important target for asthma education.     

Evaluation of plantar hyperhidrosis in patients undergoing video-assisted thoracoscopic sympathectomy

Background Sympathectomy is the treatment of choice for primary hyperhidrosis. One curious occurrence that is difficult to explain from an anatomophysiological point of view in cases of video-assisted thoracoscopic sympathectomy (VATS) for the treatment of palmar hyperhidrosis (PH) is the observed improvement in plantar hyperhidrosis (PLH). Nevertheless, current reports on VATS rarely describe the effect on PLH or just give superficial data. The aim of this study was to prospectively investigate, how surgery affects PLH in patients with PH and PLH over one-year period. Methods From May 2003 to January 2004, 70 consecutive patients with combined PH and PLH underwent VATS at the T2, T3, or T4 ganglion level (47 women and 23 men, with mean age of 23 years). Results Immediately after the operation, all the patients said they were free from PH episodes, except for two patients (2.8%) who suffered from continued PH. Compensatory hyperhidrosis (CH) of various degrees was observed in 58 (90.6%) patients after one year. Only 13 (20.3%) suffered from severe CH. There was a great initial improvement in PLH in 50% of the cases, followed by progressive regression, such that only 23.4% still presented that improvement after one year. The number of cases without overall improvement increased progressively (from 17.1% to 37.5%) and the numbers with slight improvement remained stable (32.9–39.1%). Of the 24 patients with no improvement after one year, 6 patients graded plantar sweating worse. Conclusion Patients with PH and PLH who undergo VATS to treat their PH present a good initial improvement in PLH that reduces to a lower level of improvement after the one-year period.