Prenatal Diagnosis of Gómez-López-Hernández Syndrome.

Gómez-López-Hernández syndrome (GLHS), also known as cerebello-trigeminal-dermal dysplasia, is an extremely rare neurocutaneous disease, classically described by the triad of rhombencephalosynapsis (RES), bilateral focal alopecia, and trigeminal anesthesia. The clinical and radiographic spectrum of GLHS is now known to be broader, including craniofacial and supratentorial anomalies, as well as neurodevelopmental issues. Here, we present a case of antenatally diagnosed GLHS with RES, hydrocephaly, and craniofacial anomalies identified on ultrasound (low-set ears with posterior rotation, hypertelorism, midface hypoplasia, micrognathia, and anteverted nares) which were confirmed by autopsy after termination of pregnancy at 23 weeks of gestation. As no known genetic causes have been identified and the classical triad is not applicable to prenatal imaging, prenatal diagnosis of GLHS is based on neuroimaging and the identification of supporting features. In presence of an RES associated with craniofacial abnormalities in prenatal (brachycephaly, turricephaly, low-set ears, midface retrusion, micrognathia), GLHS should be considered as "possible" according to postnatal criteria

Arcula: A Secure Hierarchical Deterministic Wallet for Multi-asset Blockchains

This work presents Arcula, a new design for hierarchical deterministic wallets that brings identity-based addresses to the blockchain. Arcula is built on top of provably secure cryptographic primitives. It generates all its cryptographic secrets from a user-provided seed and enables the derivation of new public keys based on the identities of users, without requiring any secret information. Unlike other wallets, it achieves all these properties while being secure against privilege escalation. We formalize the security model of hierarchical deterministic wallets and prove that an attacker compromising an arbitrary number of users within an Arcula wallet cannot escalate his privileges and compromise users higher in the access hierarchy. Our design works out-of-the-box with any blockchain that enables the verification of signatures on arbitrary messages. We evaluate its usage in a real-world scenario on the Bitcoin Cash network

Feasibility of adding magnesium to intrathecal fentanyl in pediatric cardiac surgery

AbstractBackgroundMagnesium is (NMDA) receptor antagonist used as an adjuvant for postoperative analgesia. There are several studies comparing the efficacy of the different routes of administration of magnesium. We aimed to study the effects of adding magnesium to IT fentanyl on peri-operative analgesic requirements after elective pediatric cardiac surgery.MethodsThis prospective double controlled randomized study (closed envelop method) included eighty pediatric patients subjected to elective open cardiac surgery. They were randomly allocated into four equal groups (20 patients each): (A) control group (i.v. fentanyl), (B) intrathecal fentanyl group (ITF) (received IT 1μg/kg of fentanyl), (C) intrathecal fentanyl and magnesium (0.5mg/kg) group (received IT 1μg/kg of fentanyl citrate and 0.5mg/kg magnesium sulfate), and (D) intrathecal fentanyl magnesium (1mg) group (received IT 1μg/kg of fentanyl citrate, and 1mg/kg magnesium sulphate). The perioperative anesthetic management was standardized.ResultsThe results of this study demonstrated that the analgesic profile tended to be better with ITF, ITF-Mg 0.5mg/kg and ITF-Mg 1mg/kg groups than the control group. Also, intraoperative fentanyl used in ITF-Mg (1mg) was statistically less as compared with ITF and ITF-Mg (0.5mg) groups. Time to extubation (h) was surprisingly, shorter in ITF-Mg (1mg) as compared with ITF and control groups. Also, postoperative intravenous fentanyl consumption μg/kg/24h was more in control group as compared with other groups.ConclusionIn conclusion, the use of intrathecal fentanyl-magnesium (1mg/kg) in pediatric patients subjected to open cardiac surgery reduced intra and postoperative analgesic consumption, prolonged the time to first analgesic requirement and allowed early tracheal extubation when compared with intravenous fentanyl, intrathecal fentanyl or intrathecal fentanyl-magnesium (0.5mg/kg)

NGS-Based Diagnosis of Treatable Neurogenetic Disorders in Adults: Opportunities and Challenges.

The identification of neurological disorders by next-generation sequencing (NGS)-based gene panels has helped clinicians understand the underlying physiopathology, resulting in personalized treatment for some rare diseases. While the phenotype of distinct neurogenetic disorders is generally well-known in childhood, in adulthood, the phenotype can be unspecific and make the standard diagnostic approach more complex. Here we present three unrelated adults with various neurological manifestations who were successfully diagnosed using NGS, allowing for the initiation of potentially life-changing treatments. A 63-year-old woman with progressive cognitive decline, pyramidal signs, and bilateral cataract was treated by chenodeoxycholic acid following the diagnosis of cerebrotendinous xanthomatosis due to a homozygous variant in CYP27A1. A 32-year-old man with adult-onset spastic paraplegia, in whom a variant in ABCD1 confirmed an X-linked adrenoleukodystrophy, was treated with corticoids for adrenal insufficiency. The third patient, a 28-year-old woman with early-onset developmental delay, epilepsy, and movement disorders was treated with a ketogenic diet following the identification of a variant in SLC2A1, confirming a glucose transporter type 1 deficiency syndrome. This case study illustrates the challenges in the timely diagnosis of medically actionable neurogenetic conditions, but also the considerable potential for improving patient health through modern sequencing technologies

Les Tumeurs Malignes De La Parotide

Buts : Analyser les divers aspects cliniques, histologiques et thérapeutiques des tumeurs malignes de la parotide. Méthode : Étude rétrospective portant sur 17 cancers parotidiens opérés dans le service d\'ORL de la Rabta entre 1994 et 2006. Résultats : Sur une période de13 ans, suite à 77 parotidectomies pour tumeur parotidienne, nous avons diagnostiqué 17 cas de cancers parotidiens soit un pourcentage de 22% de l\'ensemble des tumeurs parotidiennes, réparties en 6 types histologiques. L\'âge moyen des patients est de 49 ans avec des extrêmes allant de 16 à 86 ans et un pic à la 7ème décade de vie. Le sex-ratio est égal à 1,8. Quatre cas de Paralysies faciales (PF) transitoires et un cas de PF définitive ont été déplorés. Deux cas de récidive ont été notés et repris chirurgicalement. Conclusion : Les cancers de la parotide se caractérisent par une grande diversité histologique. Le pronostic dépend du type histologique, du stade évolutif et du traitement.Aim : to analyse clinical, histopathologic and therapeutic aspects of parotid cancers. Method : data from a retrospective study of 17 cases treated in the ENT department of Rabta hospital between 1994 and 2006. Result : in this period 77 patients were operated of parotid tumors, 17 of them were malignants (22%) divided on 6 different histological types. Mean age was 49 years and sex ratio was 1.8. Transitory facial pulsy was observed in 4 patients. Only one definitive facial palsy was observed. Recurrence was observed in 2 patients.They were operated and received a complement of radiptherapy. Conclusion : Parotid cancers are caracterised by great histopathological variety. Their prognosis depends on histological type, tumor stage and treatment Keywords: Parotid gland, cancer, parotid tumor. Journal Tunisien d\'ORL et de chirurgie cervico-faciale Vol. 18 2007: pp. 25-2

Supracricoid partial laryngectomy with crico-hyoido-epiglottopexy for glottic carcinoma with anterior commissure involvement

I tumori della glottide scoperti in fase precoce (T1-T2) possono essere trattati sia con la radioterapia, sia mediante un intervento chirurgico. Lo scopo del nostro studio è stato quello di analizzare la sopravvivenza ed i risultati funzionali della laringectomia parziale sopracricoidea con crico-ioido-epiglotto-pessia per trattare il carcinoma della glottide con coinvolgimento della commissura anteriore. Abbiamo condotto uno studio retrospettivo (1996-2013), che includeva pazienti sottoposti a laringectomia parziale sopracricoidea con crico-ioidoepiglotto- pessia per un carcinoma a cellule squamose della glottide coinvolgente la commissura anteriore. Prima dellintervento è stato inoltre effettuato uno staging completo con TC del collo e del torace, nonché una laringoscopia diretta in sospensione in anestesia generale. 53 pazienti sono stati inclusi nel nostro studio. Il periodo mediano di follow-up è stato di 124 mesi. La resezione tumorale è stata completa nel 96,2% dei casi. I tassi di sopravvivenza, specifica e senza recidiva, a 5 anni sono stati rispettivamente 93,7%, 95,6 e 87,7%. Il periodo medio di ricovero è stato di 18 giorni. I tempi medi trascorsi prima del decannulamento e prima della ripresa dellalimentazione per os sono stati rispettivamente 15 e 18 giorni. La laringectomia parziale sopracricoidea con crico-ioido-epiglotto-pessia è unopzione importante per la conservazione chirurgica della laringe. Tale approccio consente un adeguato controllo della malattia e buoni risultati funzionali, purchè le indicazioni siano seguite pedissequamente e la tecnica chirurgica sia perfetta

Radiation Pattern Reconfigurable Arch-Shaped Dual-Band Antenna for Wi-Fi and WLAN Applications

This paper describes the design and analysis of a reconfigurable radiation pattern dual-band antenna for Wi-Fi and WLAN applications. The antenna patch comprises two parts: the upper part, which consists of three symmetrical oval rings, and the lower part, which is shaped like a lotus flower. By controlling the ON and OFF states of lumped p-i-n switches to control the direction of the radiation beams, the proposed pattern reconfigurable antenna achieves three reconfigurable states. The beam's direction change is performed by two switches that are connected in the gap between the feedline and the arch. The proposed antenna operates at 2.4 and 5.5 GHz, covering the bands from 2.1882 to 2.55 GHz and from 5.31 to 5.96 GHz, respectively. Additionally, the directivity over the working bands is about 1.92 to 4 dBi while the gain lies in the range of 1.66 to 3.5 dB. Moreover, the voltage standing wave ratio (VSWR) varies from 1 to 1.20. The size of the antenna is 47×59.5 mm2 which is printed on a 1.6 mm thickness FR-4 substrate of 4.4 relative permittivity. Computer simulation technology Microwave Studio is used to design and study the recommended constructions. The proposed design achieves an acceptable value of VSWR, stable gain, and good directivity, which makes it a suitable choice for future radiation pattern reconfiguration applications. The proposed antenna is distinguished by a simple shape, compact size, respectable return loss, good radiation characteristics, and high efficiency. The obtained results from measurements are quite close to the simulations