Anti-Synthetase Syndrome: A Case Report on the Elevated Risk of Pneumocystosis.

pneumonia (PCP), now referred to as pneumonia (PJP), occurs in immunocompromised patients. It is particularly associated with cellular immunodeficiency due to certain diseases or treatments. The risk of PCP is likely correlated with the severity of cellular immunity damage.

Variable Expression Common Immune Deficiency: A Report of Five Cases.

We present five cases of common variable immunodeficiency (CVID), comprising three women and two men with a mean age of 23.8 ± 9.2 years.

The chemical state of the watershed in Ras Elma region (South of Taza, Morocco) one of the parameters responsible for the decline in the formation of the current travertine formations.

The Ras Elma region, situated to the south of the city of Taza in northern Morocco, boasts abundant travertine formations that continue to develop, albeit selectively in specific sheltered sites. This development is influenced by various parameters, including the role of water chemistry. This article presents a spatio-temporal analysis of various hydrochemical parameters, including conductivity, pH, temperature, magnesium, calcium, and others.

Chemical characterization, anti-struvite crystal, anti-inflammatory, analgesic, and antidepressant activities of Papaver rhoeas L. root and leaf extracts.

Ethnopharmacological Relevance: Papaver rhoeas L. (P. rhoeas) is used to treat a wide range of pathologies.

Thirteen Cases of Pulmonary Pneumocystis in HIV-Negative Patients.

We report 13 cases of pulmonary pneumocystis (PCP) in human immunodeficiency virus (HIV)-uninfected patients. Of eight males and five females, with a mean age of 55 years, one had breast neoplasia, two had common variable immunodeficiency (CVID), one had an autoimmune disease "Goodpasture's syndrome", and one had idiopathic fibrosis (nonspecific interstitial pneumonia/fibrosis (NIP)) undergoing prolonged corticosteroid therapy for two years, with no known immunosuppression in the remaining cases. The clinical picture was characterized by constant dyspnea and severe hypoxia in 11 cases.

L. stem and flower extracts: Anti-struvite, anti-inflammatory, analgesic, and antidepressant activities.

The L. () plant, which belongs to the Papaveraceae family, is also used as food and is exploited to treat several health problems. The purpose of this research is to determine the anti-struvite, anti-inflammatory, analgesic, and antidepressant effects of the stem extract (SE) and flower extract (FE) of the plant .

Effect of manganese doping on structural, optical, morphological, and dielectric properties of Ba(TiMn)O lead-free ceramics for energy storage in supercapacitors.

A supercapacitor (SC) is considered to be one of the best energy storage devices due to its high-power density, long lifespan, fast charge storage capability, and eco-friendliness. Ceramics with low-cost, nontoxic, high efficiency, and stability are the suitable and promising materials for performed supercapacitors at room temperature. As proposal, we synthesized by sol-gel method the ceramics Ba(TiMn)O (where x = 0, 1, 2, or 3%) to study the effect a low rate of manganese doping on their morphological, structural, dielectric, and optical properties.

Chemical Composition, Antioxidant Potentials, and Calcium Oxalate Anticrystallization Activity of Polyphenol and Saponin Fractions from L. Press Cake.

A wide range of biological properties and a potent therapeutic and prophylactic effect on chronic diseases are all present in L. press cake. The aim of this research is to valorize the anticrystallization properties against calcium oxalate crystals of L.

Chemical Composition and Anti-Urolithiatic Activity of Extracts from (L.) Skeels Press-Cake and (L.) Willd.

Ethnobotanical studies have reported the traditional medicinal uses of Acacia senegal (L.) Willd. and Argania spinosa (L.

Molecular and clinical assessment of maturity-onset diabetes of the young revealed low mutational rate in Moroccan families.

Background: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes characterized by autosomal dominant inheritance. To offer an adequate patient management and therapeutic treatment for MODY patients, in addition to an early efficient diagnosis of their asymptomatic relatives, it is crucial to set an accurate molecular diagnosis. Hence, our aim was to determine the frequency of HNF1A and GCK genes among Moroccan-suspected MODY patients.

Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.

Purpose: Rare genetic variants in KDR, encoding the vascular endothelial growth factor receptor 2 (VEGFR2), have been reported in patients with tetralogy of Fallot (TOF). However, their role in disease causality and pathogenesis remains unclear.

Methods: We conducted exome sequencing in a familial case of TOF and large-scale genetic studies, including burden testing, in >1,500 patients with TOF.

Absence of GATA4 Mutations in Moroccan Patients with Atrial Septal Defect (ASD) Provides Further Evidence of Limited Involvement of GATA4 in Major Congenital Heart Defects.

Objective: Atrial septal defect (ASD) is one of the most common types of congenital heart disease (CHD). It is mainly caused by mutations of NK2 homeobox 5, GATA binding protein 4 (GATA4), and myosin heavy chain 6 in non-syndromic cases. This study aims to carry out, for the first time, the GATA4 mutation screening in a Moroccan population affected by ASD and compare the obtained mutation rate across populations.

GATA4 molecular screening and assessment of environmental risk factors in a Moroccan cohort with tetralogy of Fallot.

Background: Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart defect (CHD) with an incidence of 1/3600 live births. This disorder was associated with mutations in the transcription factors involved in cardiogenesis, like Nk2 homeobox5 (NKX2-5), GATA binding protein4 (GATA4) and T-BOX1 (TBX1). GATA4 contributes particularly to heart looping and differentiation of the second heart field.

[Megaoesophagus: an historical case study].

Achalasia, also known as cardiospasm or megaoesophagus is a rare disorder of unknown origin. It is a primary motor disorder of the esophagus characterized by the absence of the esophageal peristalsis and by an incomplete or an absent relaxation of the lower oesophageal sphincter. Common symptoms include dysphagia, regurgitations and retrosternal pain.

Reliability of the Arabic Smartphone Addiction Scale and Smartphone Addiction Scale-Short Version in Two Different Moroccan Samples.

The extensive accessibility to smartphones in the last decade raises the concerns of addictive behavior patterns toward these technologies worldwide and in developing countries, and Arabic ones in particular. In an area of stigmatized behavior such as Internet and smartphone addiction, the hypothesis extends to whether there is a reliable instrument that can assess smartphone addiction. To our knowledge, no scale in Arabic language is available to assess maladaptive behavior associated with smartphone use.

Williams-Beuren syndrome in diverse populations.

Williams-Beuren syndrome (WBS) is a common microdeletion syndrome characterized by a 1.5Mb deletion in 7q11.23.

Noonan syndrome in diverse populations.

Noonan syndrome (NS) is a common genetic syndrome associated with gain of function variants in genes in the Ras/MAPK pathway. The phenotype of NS has been well characterized in populations of European descent with less attention given to other groups. In this study, individuals from diverse populations with NS were evaluated clinically and by facial analysis technology.

The detection of a novel insertion mutation in exon 2 of the gene associated with familial mediterranean fever in a moroccan family.

Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease that is inherited in an autosomal recessive manner and is caused by mutations in the gene. As the name indicates, FMF occurs within families and is more common in individuals of Mediterranean descent than in persons of any other ethnicity. To date, 314 mutations have been reported.

Novel NKX2-5 germline mutation in a Moroccan child with transitional atrio-ventricular septal defect (tAVSD).

Atrioventricular septal defect is a complex congenital heart defects (CHD) with a prevalence of approximately 4% of all CHDs. Transitional form of atrio-ventricular septal defect (tAVSD) associates ostium primum atrial septal defect, common atrioventricular annulus with distinct atrioventricular valvar orifices in addition of restrictive ventricular septal defect. We describe in this report clinical and molecular features of a Moroccan boy that carries a novel NK2 homeobox 5 (NKX2-5) germline mutation (Pro141Ala), and exhibits a transitional atrio-ventricular septal defect.

Noonan syndrome-causing genes: Molecular update and an assessment of the mutation rate.

Noonan syndrome is a common autosomal dominant disorder characterized by short stature, congenital heart disease and facial dysmorphia with an incidence of 1/1000 to 2500 live births. Up to now, several genes have been proven to be involved in the disturbance of the transduction signal through the RAS-MAP Kinase pathway and the manifestation of Noonan syndrome. The first gene described was , followed by , , , , , , and , and recently , , and , among others.

NKX2-5 molecular screening and assessment of variant rate and risk factors of secundum atrial septal defect in a Moroccan population.

Objective: Secundum atrial septal defect (ASDII) has multifactorial etiology that is combination of environmental (e.g., mother's exposure to toxicity, ethnicity) and genetic causes.

Coordinated seasonal regulation of metabolic and reproductive hypothalamic peptides in the desert jerboa.

Jerboa (Jaculus orientalis) is a semi-desert rodent displaying strong seasonal variations in biological functions in order to survive harsh conditions. When environmental conditions become unfavorable in early autumn, it shuts down its reproductive axis, increases its body weight, and finally hibernates. In spring, the jerboa displays opposite regulations, with a reactivation of reproduction and reduction in body weight.

Unusual combination of lesions of the traumatic hand: closed central slip laceration of the extensor and interphalangeal thumb joint's dislocation (a case report).

From the functional standpoint, the hand is one of the most important organs of the body. However, its significance depends largely upon the pincer action of the thumb-index. The management of traumatic lesions of the hand is nowadays' subject of numerous scientific discussions.