Effects of heterozygosity for the E180 splice mutation causing growth hormone receptor deficiency in Ecuador on IGF-I, IGFBP-3, and stature.

CONTEXT & OBJECTIVE: The Ecuadorian GH receptor deficiency (GHRD)/Laron syndrome population is the only large cohort with a single GHR mutation (E180 splice), permitting identification of numerous carrier and noncarrier first-degree relatives, to ascertain effects of heterozygosity on GH-dependent IGF-I and IGFBP-3 concentrations and on growth. DESIGN: First-degree relatives (n=212) of GHRD patients had specimens taken for IGF-I, IGFBP-3, and GHR genotyping. Normal statured (n=40) and short statured (n=40) unrelated controls had measurement of IGF-I, IGFBP-3, and stature. RESULTS: There were no significant differences between heterozygous and homozygous normal relatives in IGF-I or IGFBP-3 standard deviation scores (SDS). Heterozygous relatives had lower mean height SDS than did homozygous normals, but with extensive overlap between genotype groups in both child and adult relatives. Height SDS in general did not relate to IGF-I or IGFBP-3 concentrations. CONCLUSIONS: GH-dependent IGF-I and IGFBP-3 secretion is not affected by heterozygosity for the E180 splice mutation that causes GHRD/Laron syndrome in the Ecuadorian population. Heterozygosity is associated with reduction in mean statural SDS, but this is not sufficient to be clinically important and not mediated through measurable differences in circulating IGF-I or IGFBP-3 related to genotype.     

Pattern electroretinography and visual evoked potentials in optic nerve diseases.

BACKGROUND: To evaluate transient pattern electroretinography (PERG) and pattern visual evoked potential (VEP) for the diagnosis, differential diagnosis and follow-up of optic nerve diseases. METHODS: Twenty-nine consecutive patients (14 female, 15 male) with the diagnosis of ischaemic optic neuropathy (n=14) and optic neuritis (n=15) were included in this study. Mean age of the patients with ischaemic optic neuropathy was 63.3+/-3.3 (60-78) years and the mean age of the patients with optic neuritis was 28.3+/-8.4 (19-43) years. In each patient ophthalmological examination and systemic evaluation were done and VEP and PERG were recorded. As a control group, VEP recordings of 35 healthy subjects were included. RESULTS: In the ischaemic optic neuropathy group (group 1), mean VEP amplitude (+/-SD) (1.96+/-0.95 microV) was found to be decreased significantly in the affected eyes in comparison to the control group and the unaffected eyes. The delay in latency (116.3+/-20.14 msec in the affected eyes compared with 101.31+/-6.19 msec in unaffected eyes) was statistically significant when compared with the healthy subjects. In the optic neuritis group (group 2), VEP amplitude was decreased (4.13+/-4.04 microV vs 6.97+/-3.35 microV and 6.97+/-4.43 microV) and latency was increased (122.59+/-20.09 msec vs 101.31+/-6.19 msec and 108.76+/-13.57 msec) in affected eyes significantly in comparison to the unaffected eyes and control group, respectively. Even though there were no significant differences for P50 latency and N95/P50 ratios between affected and unaffected eyes in both groups, N95 amplitude decreased significantly in the affected eyes of the ischaemic optic neuropathy patients and N95 latency was found to be decreased in optic neuritis patients. There was no correlation between VEP and PERG findings in both groups. CONCLUSION: VEP amplitude decreased significantly in ischaemic optic neuropathies while latency delay was more significant in patients with optic neuritis. PERG findings showed decreased N95 amplitude in ischemic optic neuropathy without associated latency changes.     

Intracortical inhibition in the human trigeminal motor system.

OBJECTIVE: To investigate the presence and features of short-interval intracortical inhibition (SICI) in the human trigeminal motor system. METHODS: Surface electromyogram (EMG) was recorded from left and right digastric muscles in 7 subjects, along with additional experiments with intramuscular EMG in 2 subjects. Focal transcranial magnetic stimulation (TMS) was used to activate the motor cortex of one hemisphere and elicit motor evoked potentials (MEPs) in digastric muscles on each side, at rest and while subjects activated the muscles at 10% maximal EMG. Paired or single TMS pulses were delivered in blocks of trials, while conditioning TMS intensity and interstimulus interval (ISI) were varied. RESULTS: At rest, paired TMS (3-ms ISI) with conditioning intensities 0.8-0.9x active motor threshold (TA) reduced the digastric MEP amplitude to a similar extent bilaterally. Conditioning at 0.5-0.7TA did not significantly reduce the MEP. MEP amplitude was reduced to a similar extent in both digastric muscles by ISIs between 1 and 4 ms (0.8TA). Voluntary bilateral activation of digastric muscles reduced the effectiveness of conditioning TMS compared to the resting state, with no differences between sides. The similarity of the responses in both digastric muscles was not due to EMG cross-talk (estimated to be approximately 10% in surface records and approximately 2% in intramuscular records), as the intramuscular records showed the same pattern as the surface records. CONCLUSIONS: The effects of paired-pulse TMS on digastric are similar to those reported for contralateral hand muscles, and are consistent with activation of SICI circuits in M1 by conditioning TMS. Our evidence further suggests that the corticomotor representations of left and right digastric muscles in M1 of a single hemisphere receive analogous inhibitory modulation from SICI circuits. SIGNIFICANCE: SICI has been demonstrated in the face area of motor cortex controlling the trigeminal motor system in normal subjects. This method can be used to investigate abnormalities of SICI in movement disorders affecting the masticatory muscles in humans.     

Length of the third stage of labor at term pregnancies is shorter if placenta is located at fundus: prospective study

AIM: To investigate how the location of the placenta at term pregnancies affects the duration of the third stage of labor and to discuss the possible mechanisms affecting the duration of the third stage. We believe that this is the first prospective study comparing the duration of the third stage of labor according to placental location. METHODS: The placental implantation was determined as anterior (n = 78), posterior (n = 59), or fundal (n = 64) by ultrasound, in 201 women with singleton pregnancies. After delivery of the newborn, oxytocin infusion was routinely given. Duration of the third stage of labor was compared by anova. P < 0.05 was determined as significant. RESULTS: The duration of the third stage of labor was 10.36 +/- 5.94 min, 10.44 +/- 5.35 min, and 8.12 +/- 4.25 min with placentas located anteriorly, posteriorly, and fundal, respectively. The length of the third stage was significantly shorter in the fundal placenta group. CONCLUSION: In this study, the length of the third stage of labor was approximately 2 min shorter with placentas located at the fundus compared to the other two groups. The mechanism responsible for shorter duration may be the bipolar separation of fundal placentas in contrast to usual unipolar down-up separation of anterior or posterior placentas. Another contributing factor may be the use of oxytocin infusion for the management of the third stage, however this should be investigated by further studies by using real time ultrasonography.     

Acute subdural hematoma: Outcome and outcome prediction

Patients with traumatic acute subdural hematoma were studied to determine the factors influencing outcome.Between January 1986 and August 1995, we collected 113 patients who underwent craniotomy for traumatic acute subdural hematoma. The relationship between initial clinical signs and the outcome 3 months after admission was studied retrospectively.Functional recovery was achieved in 38% of patients and the mortality was 60%. 91% of patients with a high Glasgow Coma Scale (GCS) score (9–15) and 23% of patients with a low GCS score (3–8) achieved functional recovery. All of 14 patients with a GCS score of 3 died. The mortality of patients with GCS scores of 4 and 5 was 95% to 75%, respectively. Patients over 61 years old had a mortality of 73% compared to 64% mortality for those aged 21–40 years. 97% of patients with bilateral unreactive pupil and 81% of patients with unilateral unreactive pupil died. The mortality rates of associated intracranial lesions were 91% in intracerebral hematoma, 87% in subarachnoid hemorrhage, 75% in contusion.Time from injury to surgical evacuation and type of surgical intervention did not affect mortality. Age and associated intracranial lesions were related to outcome. Severity of injury and pupillary response were the most important factors for predicting outcome.     

Anterior Communicating Artery Aneurysm Following Radiation Therapy for Optic Glioma: Report of a Case and Review of the Literature

A 42-year-old female presented with subarachnoid hemorrhage (SAH), presumably from a radiation-induced anterior communicating artery aneurysm. Six years earlier, she had undergone radiation treatment for an optic glioma that was diagnosed based on imaging criteria. The aneurysm was successfully clipped, and the optic glioma was biopsied to verify the diagnosis histologically. Radiation-induced cerebral aneurysms often manifest with a fatal SAH. These aneurysms typically develop in the field of radiation and are diagnosed a mean of 8.52 years after radiation. Rarely, the aneurysm sac thromboses spontaneously. Clipping or coiling of the aneurysm can be an effective treatment.     

Nonsurgical retreatment of teeth with periapical lesions previously managed by either endodontic or surgical intervention.

OBJECTIVE: The purpose of this study was to evaluate the outcome of nonsurgical retreatment of teeth with periapical lesions, which had been previously managed by either endodontic or surgical intervention, and to identify factors that might influence the prognosis. STUDY DESIGN: Seventy-five endodontically and 11 surgically treated teeth with persisting periapical lesions ranging in size from 2 to 11 mm in diameter were included in this study. The teeth were nonsurgically retreated, using calcium hydroxide as intracanal medicament, and were followed for a period of 2 to 8 years. RESULTS: Clinical and radiographic assessment of retreatment showed that complete healing for all cases was 61.6% with an additional category of incomplete healing of 14%; 24.4% failed. The size of the periapical lesions and previous surgical treatment had marginally negative influences on the prognosis, but the differences were not statistically significant. CONCLUSION: The favourable results of this study demonstrated that nonsurgical root canal retreatment is an alternative to surgical intervention of postendodontic or postsurgical failure.     

Serum anti-Müllerian hormone levels do not predict the efficiency of testicular sperm retrieval in men with non-obstructive azoospermia.

BACKGROUND: We aimed to determine whether serum concentrations of anti-Müllerian hormone (AMH) can be used as a tool for prediction of the efficacy of sperm retrieval. METHODS: This was a prospective cohort observational study. AMH levels were determined in 47 men presenting for infertility evaluation. Group 1 consisted of 24 infertile patients diagnosed with non-obstructive azoospermia. Group 1 was further divided into two subgroups. The patients with spermatozoa in their testicular samples constituted group 1a (n = 13), while the patients with absence of spermatozoa constituted group 1b (n = 11). Twenty-three normozoospermic fertile men constituted group 2. Serum AMH was measured before obtaining testicular specimens. RESULTS: Testicular spermatozoa were recovered in 13 out of the 24 patients (54%). Demographic characteristics of the three groups were similar. The difference between serum AMH levels among the three groups did not reach statistical significance. CONCLUSIONS: We speculated that although AMH is secreted predominantly into the seminiferous tubules, studying serum samples might be more advantageous than seminal plasma because the presence of seminal proteases could influence AMH levels in the latter. However, our results did not demonstrate differences in serum concentrations of AMH between the studied groups. Studies with extended patient populations focusing on seminal plasma concentrations of AMH are warranted.