Cryostimulation for Post-exercise Recovery in Athletes: A Consensus and Position Paper.

Recovery after exercise is a crucial key in preventing muscle injuries and in speeding up the processes to return to homeostasis level. There are several ways of developing a recovery strategy with the use of different kinds of traditional and up-to-date techniques. The use of cold has traditionally been used after physical exercise for recovery purposes. In recent years, the use of whole-body cryotherapy/cryostimulation (WBC; an extreme cold stimulation lasting 1-4 min and given in a cold room at a temperature comprised from -60 to -195°C) has been tremendously increased for such purposes. However, there are controversies about the benefits that the use of this technique may provide. Therefore, the main objectives of this paper are to describe what is whole body cryotherapy/cryostimulation, review and debate the benefits that its use may provide, present practical considerations and applications, and emphasize the need of customization depending on the context, the purpose, and the subject's characteristics. This review is written by international experts from the working group on WBC from the International Institute of Refrigeration.

Impact of laser therapy for twin-to-twin transfusion syndrome on subsequent pregnancy.

OBJECTIVES: The objective of our study was to determine the impact of laser therapy for twin-to-twin transfusion syndrome (TTTs) on subsequent pregnancies. METHODS: This was a monocentric retrospective observational study. Women treated by laser fetoscopy for TTTs were asked to answer a postal questionnaire about subsequent pregnancies. The primary outcome was fecundity (number of pregnancies and time to pregnancy). We also assessed pregnancy complications, birth weight, and gestational age at delivery. Pregnancy complications included the following: threatened preterm labor, preeclampsia, placenta accreta, postpartum hemorrhage, and psychological disorders. Our study population was compared with an external control group made up of mothers of monochorionic twins without TTTs. RESULTS: We included 122 cases managed at the Necker Hospital between 2008 and 2012 and 39 controls. The median conception time was longer in the TTTs group (6.4 ± 11.1 versus 2 ± 1.6 months, P = .03). The numbers of live childbirths at the end of those pregnancies were equivalent (77.6% versus 66.7%, P = .56). Birth weight (3317 ± 726 versus 3240 ± 382 g, P = .81) and gestational age at delivery (38.2 ± 6.8 WG versus 39.5 ± 1.2 WG, P = .64) were similar, with no increase of obstetrical complications compared with the control group. DISCUSSION: Twin-to-twin transfusion syndrome and its treatment do not seem to impact subsequent pregnancies.

Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 Observations.

BACKGROUND: Fetal cerebral ventricular dilatation (CVD) is a common abnormal prenatal finding that often predicts a poor prognosis. The etiology involves both genetic and nongenetic factors with diverse pathogenic mechanisms. We describe the neuropathological features of CVD in a large cohort of fetuses. The goals are to determine the physiopathological mechanisms and etiologies. METHODS: We retrospectively analyzed a series of 130 fetuses examined at the Necker University Hospital following termination of pregnancy between January 2000 and December 2014. Chiari II and Dandy-Walker malformations were excluded from our study population. Karyotype and/or array comparative genomic hybridization were performed in all cases. Targeted Sanger sequencing or next generation sequencing were carried out in 34 and 5 cases, respectively. RESULTS: We distinguished four groups of pathological entities: (1) midbrain/hindbrain patterning defects (54 cases, 42%), mainly related to aqueduct of Sylvius anomalies (atresia or stenosis); (2) cerebral cytoarchitectonic disorders (16 cases, 12%), essentially resulting from arachnoidal neuroglial ectopia; (3) hemorrhagic and perfusion failure (42 cases, 32%); and (4) nonspecific CVD (18 cases, 14%), without apparent obstruction, cortical malformation, or clastic injury. Although the pathogenic mechanisms of CVD were identified in 86% of cases, the causes, both acquired and genetic, were recognized in 21% of cases only. CONCLUSION: The neuropathological analysis is a powerful tool in the diagnosis of the fetal CVD pathogenic mechanisms and to identify homogeneous groups. The paucity of molecular diagnosis, notably in the major groups of midbrain/hindbrain patterning defects and hemorrhagic and perfusion failure, highlights the needs of future research to improve our current knowledge on CVD causes. Birth Defects Research 109:1586-1595, 2017. © 2017 Wiley Periodicals, Inc.

Pilot Study of a Software-Supported Protocol for Second-Trimester Ultrasound Screening.

OBJECTIVES: To evaluate the feasibility and impact of using a software-supported protocol for routine second-trimester ultrasound scanning. METHODS: We conducted a comparative observational study of 2 sets of 25 randomly selected normal routine second-trimester examinations performed by the same expert sonographer before and 1 year after the introduction of a software-supported protocol. The scanning protocol was identical during both periods and conformed to International Society of Ultrasound in Obstetrics and Gynecology guidelines. Two independent expert sonographers reviewed the temporal sequences of fetal anatomic visualization. The examination duration, number of images, time per stored image, and number of recorded anatomic features according to the International Society of Ultrasound in Obstetrics and Gynecology guidelines were compared between the periods. RESULTS: The mean examination duration and the number of images stored ± SD were both significantly higher during the period with the software-supported protocol than during the previous period (18.9 ± 5.3 versus 15.3 ± 2.8 minutes, respectively; P = .005; and 52.0 ± 2.4 versus 35.2 ± 3.4; P < .001). The mean time per image was also shorter with the software-supported protocol (19 ± 7 versus 26 ± 4 seconds; P < .001). Recording of the placental location, amniotic fluid quantification, cavum septi pellucidi, thoracic shape, both kidneys, both arms, and genitalia was significantly more consistent with the software-supported protocol (P < .001; P = .001; P = .022; P = .050; P = .022; P < .001; and P = .048). CONCLUSIONS: This pilot study suggests that a software-supported protocol standardizing image acquisition may improve operator efficiency during second-trimester ultrasound scans.

Ovarian endometriosis during pregnancy: a series of 53 endometriomas.

OBJECTIVES: The sonographic features of endometriomas and their natural history during pregnancy remain poorly known. The objective of our study was to report our experience concerning the diagnosis, spontaneous progression and management of endometriomas during pregnancy. STUDY DESIGN: A retrospective observational study in 46 patients (53 cysts) presenting with an ovarian endometrioma diagnosed during ultrasound examination at the first trimester of pregnancy. Sonographic findings (according to the criteria of the International Ovarian Tumor Analysis (IOTA) group and how they changed for each cyst during pregnancy and postpartum were reviewed, together with cyst management. The median follow-up was 4 years [IQR: 3-6]. Median age at diagnosis was 31 years [IQR: 27-35]. RESULTS: Among the 53 cysts identified as "endometriomas" on the first-trimester ultrasound examination, 49 (92%) were described like "cyst fluid with ground-glass echogenicity". Fifty-two cysts (98%) had a maximum diameter<100mm, only one cyst (2%) presented papillary projection and 5 cysts (9%) were multiloculated. During the second-trimester ultrasound monitoring of these cysts, of the 33 cysts that we monitored, 8 (24%) increased in size, 11 (34%) decreased in size, 5 (15%) disappeared and 9 (27%) did not change. During the third-trimester ultrasound monitoring of these cysts, of the 13 cysts that we monitored, 5 (39%) increased in size, 5 (39%) decreased in size, 2 (15%) disappeared and 1 (7%) did not change. All children (48 newborns) were born alive at a median gestational age of 39 weeks [IQR=39-40]. Only 10 cysts (19%) required surgical treatment. In all cases, surgery consisted of cystectomy. Two cysts were operated on during pregnancy (between 14 and 17 weeks of gestation) because of symptoms of adnexal torsion, 3 during cesarean section, and 5 postpartum. Four of the 10 (40%) cysts operated on were histopathologically "endometriomas", and one of them was decidualized. Four cysts were mucinous cystadenomas, one was a serous cystadenoma and one cyst was a dermoid cyst. CONCLUSION: This study underscores the difficulty of diagnosing endometriomas during pregnancy and the absolute necessity of surgical removal when ultrasonographic findings are doubtful.

A standardized approach for the assessment of the lower uterine segment at first trimester by transvaginal ultrasound: a flash study.

OBJECTIVES: To evaluate the reproducibility of a standardized approach to lower uterine segment (LUS) imaging by transvaginal ultrasound at 11-14 weeks. METHODS: This was a "flash" study lasting for 1 month. Obstetrician-sonographers performing more than 50 first trimester ultrasounds per year participated. All consecutive women attending for their 11-14 weeks scan were included. A standardized, transvaginal approach to the imaging of LUS was defined. The sonographers recorded one or two images of the LUS. The quality of the images was assessed by sonographers and reviewed by an independent fetal medicine specialist using the same scoring system. Inter and intra-reviewer variability was assessed. RESULTS: Seventy-one sonographers and 851 pregnant women participated. The mean (±SD) and medium (IQR) scores attributed by sonographer versus reviewer were 5.01 (±0.92) and 5 [4-6] versus 4.68 (±1.14) and 5 [4-5.24], p = 0.08. The mean [95% CI] difference of -0.33 [-2.6;2] was recorded. There was good, moderate and poor agreement in 74.4%, 16.7% and 8.9% cases, respectively. Variability in inter-reviewer and intra-reviewer was low with the mean [95% CI] difference of -0.1 [-1.6;1.4] and -0.1 [-1.4;1.2] respectively. CONCLUSIONS: A standardized approach to LUS imaging at 11-14 weeks is feasible and highly reproducible in a large population.

Impact of Digital Panoramic Radiograph Magnification on Vertical Measurement Accuracy.

Objectives. The purpose of this panoramic radiography study was to assess the impact of image magnification on the accuracy of vertical measurements in the posterior mandible. Methods. Six dental implants, inserted in the posterior segments of a resin model, were used as reference objects. Two observers performed implant length measurements using a proprietary viewer with two preset image magnifications: the low (1.9 : 1) and the medium (3.4 : 1) image magnifications. They also measured the implant lengths in two Digital Imaging Communications in Medicine viewers set at low (1.9 : 1), medium (3.4 : 1), and high (10 : 1) image magnifications. Results. The error between the measured length and the real implant length was close to zero for all three viewers and image magnifications. The percentage of measurements equal to the real implant length was the highest (83.3%) for the high image magnification and below 30% for all viewers with the low image magnification. Conclusions. The high and medium image magnifications used in this study allowed accurate vertical measurements, with all three imaging programs, in the posterior segments of a mandibular model. This study suggests that a low image magnification should not be used for vertical measurements on digital panoramic radiographs when planning an implant in the posterior mandible.

A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test.

Cytogenetic microarray analysis is now the first-tier genetic test used in a postnatal clinical setting to explore genomic imbalances in individuals with developmental disability and/or birth defects. However, in a prenatal setting, this technique is not widely implemented, largely because the clinical impact of some copy number variants (CNVs) remains difficult to assess. This limitation is especially true in France where termination of pregnancy for medical reasons may be performed at any stage of gestation. During a period of 15 months, we investigated 382 fetuses presenting with ultrasound anomalies, using a customized microarray designed to avoid the detection of CNVs raising challenges for genetic counseling. After excluding common aneuploidies, 20/374 (5.3%) fetuses had a pathogenic CNV, among which 12/374 (3.2%) could have been detected by karyotyping, whereas 8/374 (2.1%) were cryptic. Within these 374 cases, 300 were ongoing pregnancies at the time of array comparative genomic hybridization (aCGH) testing. For these pregnancies, we detected 18/300 (6%) pathogenic CNVs, among which 6/300 (2%) were cryptic. Using this approach, only 2/300 (0.6%) of the detected CNVs raised difficulties for genetic counseling. This study confirms the added value of this strategy in a prenatal clinical setting to minimize ethical issues for genetic counseling while enhancing the detection of genomic imbalances.

Maxillary sinus grafting with a synthetic, nanocrystalline hydroxyapatite-silica gel in humans: histologic and histomorphometric results.

The aim of this study was to evaluate in humans the amount of new bone after sinus floor elevation with a synthetic bone substitute material consisting of nanocrystalline hydroxyapatite embedded in a highly porous silica gel matrix. The lateral approach was applied in eight patients requiring sinus floor elevation to place dental implants. After elevation of the sinus membrane, the cavities were filled with 0.6-mm granules of nanocrystalline hydroxyapatite mixed with the patient's blood. A collagen membrane (group 1) or a platelet-rich fibrin (PRF) membrane (group 2) was placed over the bony window. After healing periods between 7 and 11 months (in one case after 24 months), 16 biopsy specimens were harvested with a trephine bur during implant bed preparation. The percentage of new bone, residual filler material, and soft tissue was determined histomorphometrically. Four specimens were excluded from the analysis because of incomplete biopsy removal. In all other specimens, new bone was observed in the augmented region. For group 1, the amount of new bone, residual graft material, and soft tissue was 28.7% ± 5.4%, 25.5% ± 7.6%, and 45.8% ± 3.2%, respectively. For group 2, the values were 28.6% ± 6.90%, 25.7% ± 8.8%, and 45.7% ± 9.3%, respectively. All differences between groups 1 and 2 were not statistically significant. The lowest and highest values of new bone were 21.2% and 34.1% for group 1 and 17.4% and 37.8% for group 2, respectively. The amount of new bone after the use of nanocrystalline hydroxyapatite for sinus floor elevation in humans is comparable to values found in the literature for other synthetic or xenogeneic bone substitute materials. There was no additional beneficial effect of the PRF membrane over the non-cross-linked collagen membrane.

Survival rates of short (6 mm) micro-rough surface implants: a review of literature and meta-analysis.

OBJECTIVE: The aim of this review was to test the hypothesis that 6 mm micro-rough short Straumann(®) implants provide predictable survival rates and verify that most failures occurring are early failures. MATERIALS AND METHODS: A PubMed and hand search was performed to identify studies involving micro-rough 6-mm-short implants published between January 1987 and August 2011. Studies were included that (i) involve Straumann(®) 6 mm implants placed in the human jaws, (ii) provide data on the survival rate, (iii) mention the time of failure, and (iv) report a minimum follow-up period of 12 months following placement. A meta-analysis was performed on the extracted data. RESULTS: From a total of 842 publications that were screened, 12 methodologically sound articles qualified to be included for the statistical evaluation based on our inclusion criteria. A total of 690 Straumann(®) 6-mm-short implants were evaluated in the reviewed studies (Total: placed-690, failed-25; maxilla: placed-266, failed-14; mandible: placed-364, failed-5; follow-up period: 1-8 years). A meta-analysis was performed on the calculated early cumulative survival rates (CSR%). The pooled early CSR% calculated in this meta-analysis was 93.7%, whereas the overall survival rates in the maxilla and mandible were 94.7% and 98.6% respectively. Implant failures observed were predominantly early failures (76%). CONCLUSION: This meta-analysis provides robust evidence that micro-rough 6-mm-short dental implants are a predictable treatment option, providing favorable survival rates. The failures encountered with 6-mm-short implants were predominantly early and their survival in the mandible was slightly superior.

Potential adverse events of endosseous dental implants penetrating the maxillary sinus: long-term clinical evaluation.

OBJECTIVES/HYPOTHESIS: The aim of this study was to evaluate the nature and incidence of long-term maxillary sinus adverse events related to endosseous implant placement with protrusion into the maxillary sinus. STUDY DESIGN: Retrospective cohort study. METHODS: All patients who underwent placement of endosseous dental implants with clinical evidence of implant penetration into the maxillary sinus with membrane perforation were included in this study. Only patients with a minimum follow-up of 5 years after implant placement were included in this study. Maxillary sinus assessment was both clinical and radiological. RESULTS: Eighty-three implants with sinus membrane perforation in 70 patients met the study's inclusion criteria. Mean age was 65.96 years ± 14.23. Twelve patients had more than one implant penetrating the maxillary sinus, and seven of them had bilateral sinus perforation. Estimated implant penetration was ≤ 3 mm in all cases. The average clinical and radiological follow-up was 9.98 years ± 3.74 (range 60-243 months). At the follow-up appointments, there were no clinical or radiological signs of sinusitis in any patient. CONCLUSION: This long-term study, spreading over a period of up to 20 years, indicates that no sinus complication was observed following implant penetration into the maxillary sinus. Furthermore, absence of occurrence of such complications is related to the maintenance of successful osseointegration. A contrario, and in the presence of an acute or chronic maxillary sinusitis, the differential diagnosis must always consider other potential odontogenic and nonodontogenic etiologies.

Combined screening for open spina bifida at 11-13 weeks using fetal biparietal diameter and maternal serum markers.

OBJECTIVE: Screening at 11-13 weeks with ultrasound biparietal diameter (BPD) can detect half of open spina bifida cases. Maternal serum α-fetoprotein (AFP) levels at 15-19 weeks are increased 3- to 4-fold, in open spina bifida. We assessed whether combined screening using BPD, AFP, and other serum markers at 11-13 weeks would increase detection. STUDY DESIGN: Maternal AFP levels were measured on serum stored at 11-13 weeks in 44 open spina bifida and 182 unaffected pregnancies, and results were expressed in multiples of the median (MoM) for gestational age. All samples had been measured for free ß-human chorionic gonadotropin (ß-hCG) and pregnancy-associated plasma protein (PAPP)-A. A multivariate Gaussian model was used to predict screening performance from the serum data and BPD measurements on 80 cases, including 36 previously published. RESULTS: The median AFP level in cases was 1.201 MoM, significantly higher than in unaffected pregnancies (P < .01, 1 tail). The median free ß-hCG was significantly reduced to 0.820 MoM (P < .02), but the median PAPP-A was similar in cases and controls. Modeling predicted the following: BPD alone would detect 50% of cases for a 5% false-positive rate or 63% for 10%; adding AFP increases detection by 2%; and a combined test with BPD, AFP, and free ß-hCG detects 58% for 5% or 70% for 10%. CONCLUSION: Combining AFP and BPD with free ß-hCG as part of first-trimester aneuploidy screening would also allow early detection about two-thirds of cases with open spina bifida.

MRI and ultrasound fusion imaging for prenatal diagnosis.

OBJECTIVE: A combination of magnetic resonance imaging (MRI) images with real time high-resolution ultrasound known as fusion imaging may improve prenatal examination. This study was undertaken to evaluate the feasibility of using fusion of MRI and ultrasound (US) in prenatal imaging. STUDY DESIGN: This study was conducted in a tertiary referral center. All patients referred for prenatal MRI were offered to undergo fusion of MRI and US examination. All cases underwent 1.5 Tesla MRI protocol including at least 3 T2-weighted planes. The Digital Imaging and Communications in Medicine volume dataset was then loaded into the US system for manual registration of the live US image and fusion imaging examination. RESULTS: Over the study period, 24 patients underwent fusion imaging at a median gestational age of 31 (range, 24-35) weeks. Data registration, matching and then volume navigation was feasible in all cases. Fusion imaging allowed superimposing MRI and US images therefore providing with real time imaging capabilities and high tissue contrast. It also allowed adding a real time Doppler signal on MRI images. Significant fetal movement required repeat-registration in 15 (60%) cases. The average duration of the overall additional scan with fusion imaging was 10 ± 5 minutes. CONCLUSION: The combination of fetal real time MRI and US image fusion and navigation is feasible. Multimodality fusion imaging may enable easier and more extensive prenatal diagnosis.

Clinical and histological evaluation of postextraction platelet-rich fibrin socket filling: a prospective randomized controlled study.

OBJECTIVES: The aims were to investigate whether the use of platelet-rich fibrin membranes (PRF) for socket filling could improve microarchitecture and intrinsic bone tissue quality of the alveolar bone after premolar extraction and to assess the influence of the surgical procedure before implant placement. MATERIAL AND METHODS: Twenty-three patients requiring premolar extraction followed by implant placement were randomized to three groups: (1) simple extraction and socket filling with PRF, (2) extraction with mucosal flap and socket filling with PRF, and (3) controls with simple extraction without socket filling. Implant placement was performed at week 8, and a bone biopsy was obtained for histomorphometric analysis. RESULTS: Analysis by microcomputed tomography showed better bone healing with improvement of the microarchitecture (P < 0.05) in group 1. This treatment had also a significant effect (P < 0.05) on intrinsic bone tissue quality and preservation of the alveolar width. An invasive surgical procedure with a mucosal flap appeared to completely neutralize the advantages of the PRF. CONCLUSIONS: These results support the use of a minimally traumatic procedure for tooth extraction and socket filling with PRF to achieve preservation of hard tissue.

Day-specific probabilities of conception in fertile cycles resulting in spontaneous pregnancies.

STUDY QUESTION: When, within the female cycle, does conception occur in spontaneously fertile cycles? SUMMARY ANSWER: This study provides reference values of day-specific probabilities of date of conception in ongoing pregnancies. The maximum probability of being within a 5-day fertile window was reached on Day 12 following the last menstrual period (LMP). WHAT IS KNOWN ALREADY: The true date of conception is not observable and may only be estimated. Accuracy of these estimates impacts on obstetric management of ongoing pregnancies. Timing of ovulation and fertility has been extensively studied in prospective studies of non-pregnant fertile women using error-prone proxies, such as hormonal changes, body-basal temperature and ultrasound, yielding day-specific probabilities of conception and fertile windows. In pregnant women, date of conception may be retrospectively estimated from early pregnancy fetal measurement by ultrasound. STUDY DESIGN, SIZE, DURATION: Retrospective analysis of consecutive pregnancies in women referred for routine first-trimester screening, over a 3-year period (2009-2011) in a single ultrasound center (n = 6323). PARTICIPANTS/MATERIALS, SETTING, METHODS: Within the overall population, 5830 cases with a certain date of last menses were selected for analysis. The date of conception was estimated using a crown-rump length biometry and an equation derived from IVF/ICSI pregnancies. Day-specific probabilities of conception were estimated across several covariates, including age, cycle characteristics and ethnicity, using deconvolution methods to account for measurement error. MAIN RESULTS AND THE ROLE OF CHANCE: Overall, the day-specific probability of conception sharply rises at 7 days after the LMP, reaching its maximum at 15 days and returning to zero by 25 days. Older women tend to conceive earlier within their cycle, as did women with regular cycles and white and black women compared with Asian ethnicity. The probability of being within the fertile window was 2% probability at Day 4, a maximum probability of 58% at Day 12 and a 5% probability by Day 21 of the cycle. LIMITATIONS, REASONS FOR CAUTION: Although conception is believed to occur within hours following ovulation, a discrepancy is theoretically possible. However, when comparing our results to those of prospective studies, no such difference was found. The equation used for estimating the date of pregnancy was estimated in IVF/ICSI pregnancies, which could lead to potential bias in spontaneous pregnancies. However, in our population, the observed bias was negligible. Non-fertile cycles and early pregnancy losses are necessarily overlooked because of the nature of our data. WIDER IMPLICATIONS OF THE FINDINGS: Because of the wider access to retrospective data and the potential bias in prospective studies of ovulation monitoring, this study should broaden the perspectives of future epidemiologic research in fertility and pregnancy monitoring. STUDY FUNDING/COMPETING INTERESTS: None.

Osteotome sinus floor elevation with and without grafting material in the severely atrophic maxilla. A 1-year prospective randomized controlled study.

OBJECTIVES: (1) To measure and compare endo-sinus bone levels around implants randomly placed with an osteotome sinus floor elevation (OSFE) procedure in grafted (control) and non-grafted (test) sinuses, (2) to evaluate the OSFE efficacy with short, tapered, and chemically modified hydrophilic surfaced implants in extremely atrophic maxillae, (3) to show that fused corticals may constitute a complication risk. MATERIAL AND METHODS: The TE(®) SLActive 8 mm-long implants (Straumann AG) were placed using an OSFE procedure in 4 mm or less of bone height. Healing time before prosthetic rehabilitation was 10 weeks. One year after implant placement, bone levels were measured on standardized periapical radiographs. RESULTS: Thirty-seven (17 tests, 20 controls) implants were placed in 12 patients with a mean maxillary residual bone height (RBH) of 2.4 ± 0.9 mm. Before loading, two control implants failed (RBH 1.4 and 1.2 mm); two others rotated at loading (one test, RBH 0.9 mm; one control, RBH 1.5 mm) but were uneventfully loaded after three additional months of healing. These adverse events and complications occurred when implants were placed in merged corticals. Endo-sinus bone gain was 3.9 ± 1.0 and 5.0 ± 1.3 mm for the test and control groups (P = 0.003). The 1-year success rate was 100% and 90%, respectively (P = 0.49). CONCLUSION: Although more bone is gained when grafting material is used, this may not be required to promote endo-sinus bone gain. The OSFE procedure with or without grafting material could be efficient when the RBH is ≤ 4 mm. However, when both corticals merged, the risk of complication could increase.

Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.

Cobblestone lissencephaly is a peculiar brain malformation with characteristic radiological anomalies. It is defined as cortical dysplasia that results when neuroglial overmigration into the arachnoid space forms an extracortical layer that produces agyria and/or a "cobblestone" brain surface and ventricular enlargement. Cobblestone lissencephaly is pathognomonic of a continuum of autosomal-recessive diseases characterized by cerebral, ocular, and muscular deficits. These include Walker-Warburg syndrome, muscle-eye-brain disease, and Fukuyama muscular dystrophy. Mutations in POMT1, POMT2, POMGNT1, LARGE, FKTN, and FKRP identified these diseases as alpha-dystroglycanopathies. Our exhaustive screening of these six genes, in a cohort of 90 fetal cases, led to the identification of a mutation in only 53% of the families, suggesting that other genes might also be involved. We therefore decided to perform a genome-wide study in two multiplex families. This allowed us to identify two additional genes: TMEM5 and ISPD. Because TMEM has a glycosyltransferase domain and ISPD has an isoprenoid synthase domain characteristic of nucleotide diP-sugar transferases, these two proteins are thought to be involved in the glycosylation of dystroglycan. Further screening of 40 families with cobblestone lissencephaly identified nonsense and frameshift mutations in another four unrelated cases for each gene, increasing the mutational rate to 64% in our cohort. All these cases displayed a severe phenotype of cobblestone lissencephaly A. TMEM5 mutations were frequently associated with gonadal dysgenesis and neural tube defects, and ISPD mutations were frequently associated with brain vascular anomalies.

Efficacy and predictability of short dental implants (<8 mm): a critical appraisal of the recent literature.

PURPOSE: This review of literature was conducted to evaluate the predictability of treatment outcomes with short dental implants (SDI), ie, implants shorter than 8 mm. MATERIALS AND METHODS: The review included studies, published between January 1990 and July 2011, that (1) involved SDI (<8 mm) placed in human jaws, (2) had a minimum of 20 SDI in their analysis, (3) provided data on survival rates, and (4) reported a minimum observation period of at least 3 months after placement. RESULTS: Forty-one studies fulfilled the above criteria; only 17 of these studies reported outcomes with microrough surface SDI. Six different lengths (4, 5, 6, 6.5, 7 and 7.5 mm) of microrough surface SDI with varying diameters (3.5 to 6 mm) were identified in the studies. A total of 1,828 microrough surface SDI were inserted and 45 failures were reported. Observation periods ranged from 3 months to 9 years. The reported survival rates for SDI ranged from 92.2% to 100%. From a total of 1,123 SDI inserted in specified jaw locations, failures were observed more often in the maxilla (n=297, failed=13) than in the mandible (n=826, failed=19). The review did not identify any correlation between implant diameter and survival for the microrough SDI. CONCLUSIONS: Microrough surface short implants (6 to 7.5 mm) appear to provide favorable survival rates and, therefore, can be predictably employed for simplification of implant therapy in situations of reduced alveolar heights in the posterior jaw segments.