Gaucher’s disease: Report of 11 cases with review of literature

Gaucher's disease (GD) is a lysosomal storage disorder due to  glucocerebrosidase deficiency; it's one of the rare genetic diseases for which therapy is now available. The purpose of this work is to study the epidemiological features of the disease and to highlight the diagnostic difficulties. We performed an 11-year retrospective study of 11 patients with GD followed-up in the department of paediatric hepatology  gastroenterology and nutrition of Rabat children's Hospital. We observed 11 patients with GD: 6 males and 5 females. Age at onset ranged from 3 months to 10 years with an average of 3.41 years. Mean age at diagnosis was 4 years (range 3months-14years).Parental consanguinity was noted in 85% cases. According to the clinical presentation, we classified our patients into: 9 cases of type 1 (81%) and two cases of type 2 (19%), none of the patients presented GD type 3. GD type 1: The age at diagnosis ranged from 2 years to 14 year with an average of 6 years. Main symptoms were:splenomegaly, hepatomegaly , pallor, haemorrhagic appearance (40%), bone pain (40%). The diagnosis was based on histology showing the Gaucher's cells in various tissues (100%). Enzymatic activity dosage  confirmed the diagnosis of GD for 4 patients (44.5%). The treatment wasalways symptomatic (analgesics, transfusion). A splenectomy was  performed in one case presenting with multiple splenic abscesses and hightransfusion requirements. None of the patients received a specific  treatment (substitutive enzymotherapy). The follow-up period ranged from 3 months to 6 years with an average follow-up of 4 years. We noticed  stability in 4 cases, 2 worsening cases with bone and spleen complications.Three patients were lost to follow-up. GD type 2: we observed two cases of GD type 2 diagnosed at 3 and 18 months. The visceral symptoms wereserious and the neurological features included seizures, hypertony, squint, physical developmental milestones delay. Both of them died. Gaucher'sdisease is not exceptional in Morocco. Type 1 is the most common type. We noted through this study some diagnostic difficulties as the diagnosiswas delayed and the enzymatic dosage was performed in only 42% of the cases as well as therapeutic difficulty with no prescription of the specifictreatment given the high cost of the enzyme

Activation gaps for the fractional quantum Hall effect: realistic treatment of transverse thickness

The activation gaps for fractional quantum Hall states at filling fractions $\nu=n/(2n+1)$ are computed for heterojunction, square quantum well, as well as parabolic quantum well geometries, using an interaction potential calculated from a self-consistent electronic structure calculation in the local density approximation. The finite thickness is estimated to make $\sim$30% correction to the gap in the heterojunction geometry for typical parameters, which accounts for roughly half of the discrepancy between the experiment and theoretical gaps computed for a pure two dimensional system. Certain model interactions are also considered. It is found that the activation energies behave qualitatively differently depending on whether the interaction is of longer or shorter range than the Coulomb interaction; there are indications that fractional Hall states close to the Fermi sea are destabilized for the latter.Comment: 32 pages, 13 figure

ATP7A is a novel target of retinoic acid receptor β2 in neuroblastoma cells

Increased retinoic acid receptor β (RARβ2) gene expression is a hallmark of cancer cell responsiveness to retinoid anticancer effects. Moreover, low basal or induced RARβ2 expression is a common feature of many human cancers, suggesting that RARβ2 may act as a tumour suppressor gene in the absence of supplemented retinoid. We have previously shown that low RARβ2 expression is a feature of advanced neuroblastoma. Here, we demonstrate that the ABC domain of the RARβ2 protein alone was sufficient for the growth inhibitory effects of RARβ2 on neuroblastoma cells. ATP7A, the copper efflux pump, is a retinoid-responsive gene, was upregulated by ectopic overexpression of RARβ2. The ectopic overexpression of the RARβ2 ABC domain was sufficient to induce ATP7A expression, whereas, RARβ2 siRNA blocked the induction of ATP7A expression in retinoid-treated neuroblastoma cells. Forced downregulation of ATP7A reduced copper efflux and increased viability of retinoid-treated neuroblastoma cells. Copper supplementation enhanced cell growth and reduced retinoid-responsiveness, whereas copper chelation reduced the viability and proliferative capacity. Taken together, our data demonstrates ATP7A expression is regulated by retinoic acid receptor β and it has effects on intracellular copper levels, revealing a link between the anticancer action of retinoids and copper metabolism

A rare cause of neonatal diarrhoea: Microvillositary inclusion disease: about a case report

Microvillositary inclusion disease also known as microvillositary atrophy is a rare congenital enteropathy containing a border abnormality in the brushes of enterocytes, manifesting as severe rebellious diarrhea in newborns and infants. It was first described in 1978 by Davidson, et al. The autosomal recessive mode of transmission is suggested because of the frequency of familial cases and inbreeding. Histopathology plays an essential role in establishing the diagnosis. In 2008, a common mutation was identified in most of the patients studied in the MYO5B gene that codes for the Myosin Vb protein, which helped in understanding the etiopathogeny of this pathology poorly described in the literature. The prognosis for this pathology is extremely bleak, requiring total parenteral nutrition for child survival. Intestinal transplantation is for the moment the only long-term solution. Materials and methods: We report the case of an infant aged 6 months, with no perinatal antecedent. There is 1st degree consanguinity, the mother has a history of deaths in younger siblings in undetermined circumstances. Who since the age of 3 days presents profuse liquid diarrhoea with malnutrition, dehydration and enormous abdominal distension? Several diagnoses were suspected before the jejune biopsy was carried out, which led to the diagnosis of a microvilliositary inclusion disease. The aim of our work is to highlight the rarest cause of neonatal rebel diarrhoea and to know how to include it among other differential diagnoses

Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: a case report

Abstract Background Allgrove syndrome is a rare autosomal recessive disorder characterized by the triad of achalasia, alacrimia and adrenal insufficiency. It is caused by the mutations of the AAAS gene located on chromosome 12q13. The c.1331 + 1G > A mutation is one of the most common described in North Africa including Tunisia, Algeria and Libya. We report here the clinical and genetic profile of a Moroccan family with Allgrove syndrome. Case presentation A Moroccan sister and brother born to consanguineous parents were found, at the ages of twelve and fifteen months old respectively, to have alacrimia and isolated glucocorticoid deficiency. Later, they developed achalasia whereupon Allgrove syndrome was diagnosed clinically and confirmed by DNA sequencing which revealed a c.1331 + 1G > A mutation in the AAAS gene. Conclusion This finding reinforces previous studies in demonstrating the geographic expansion of the ancestral mutation c.1331 + 1G > A in North African patients and thus enabling targeted genetic counseling. To the best of our knowledge, this is the first report of the AAAS gene mutation in Moroccan patients

Моделювання квадратної щілинної антени для додатків 5G за допомогою підходу еквівалентної схеми

У статті представлено еквівалентну схему для конструкції патч-антени з квадратними щілинами для мобільних додатків 5G. Еквівалентна схема для антени може бути виконана у вигляді резонансного LC-ланцюга або моделі лінії передачі. Ці моделі можна використовувати для визначення резонансної частоти, смуги пропускання та діаграми спрямованості антени. Мережі узгодження також можуть бути розроблені за допомогою еквівалентної схеми для узгодження імпедансів антени та приймача. Цей аналіз антени може запропонувати цінну інформацію про її поведінку, служачи основою для більш ретельного дослідження. Антена була розроблена та змодельована на підкладці FR4, що має відносну діелектричну проникність ɛr 4,3, і має розмір 4,5 x 5,2 x 0,3 мм3. У запропонованій конструкції мікросмужкова лінія 50Ω живить випромінювальну ділянку з квадратними щілинами, а дільники потужності з’єднують два елементи. У рамках технології 5G вкрай важливо досягти високої пропускної здатності зі зменшеними втратами та покращеними приростами. У цьому дослідженні використовуються AWR і HFSS для моделювання та проектування мікросмужкової антени з квадратними щілинами, а результати порівнюються з точки зору посилення та S11. Запропонована конструкція може допомогти в розробці високоефективних антенних систем 5G.The emergence of 5G technology is expected to significantly impact high-bandwidth wireless applications, making efficient antenna designs essential. This research paper presents an equivalent circuit for a squareslotted patch antenna design for 5G cellular applications. Indeed, the equivalent circuit for an antenna can be represented by a simple circuit model, such as a resonant LC circuit or a transmission line model. These models can be used to determine the resonance frequency, bandwidth, and radiation pattern of the antenna. Matching networks can also be designed using the equivalent circuit to match the antenna and receiver impedances. This analysis of the antenna can offer valuable insights into its behavior, serving as a foundation for a more extensive investigation. The antenna has been designed and simulated on an FR4 substrate featuring a relative permittivity ɛr of 4.3, and it is sized at 4.5 x 5.2 x 0.3 mm3. In the proposed design, a 50Ω microstrip line feeds a square-slotted radiating patch, and power dividers join the two elements. As part of 5G technology, it is crucial to achieve high bandwidth with reduced losses and improved gains. This study employs AWR and HFSS to simulate and design the square-slotted microstrip patch antenna, and in terms of gain and S11, the results are compared. The proposed design has the potential to contribute to the development of high-performance 5G antenna systems