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Objectives: To determine the prevalence of neurological involvement in Behcet's disease in a prospective study, and to describe the clinical patterns of neurological presentation in this disease in patients attending [...]

In this paper, a generalization to the multivariate skew-normal distribution of Arnold and Beaver (2002) is proposed. Also several distributional properties of the proposed distribution are explored. The proposed distribution has been used to define a stochastic process called the generalized-skew Gaussian process. Furthermore, the paper focuses on applying the proposed distribution to two prediction problems namely, ordinary Kriging and Gaussian process for regression. It is shown that, if the sampling points of the generalized-skew Gaussian processes are chosen so that they are the vertices of a regular polygon, then the ordinary Kriging admit a uniformly best linear unbiased predictor. Finally, we re-analyzed the Gaussian process for regression model under the generalized-skew Gaussian process. [ABSTRACT FROM AUTHOR]

A fluorimetric assay of sodium cefoxitin in aqueous solution and in serum is described. It is rapid, sensitive and accurate and compares well with the microbiological assay of cefoxitin. [ABSTRACT FROM PUBLISHER]

The clinical features of 60 patients (45 male, 15 female) with Behçet's disease (BD) are reported in this prospective study. Ninety seven per cent had mouth ulceration, 83% genital ulceration, 75% skin lesions, 48% ocular involvement, 48% synovitis, 17% thrombophlebitis, and 22% of the male patients had epidiymitis, while constitutional symptoms were reported by 63%. The arthritis was intermittent, self limiting, and non-destructive, involving large joints, mainly the knees and ankles. The pathergy test was positive in 37 of 52 patients with BD, and negative in all 120 healthy controls and in 20 healthy volunteers who possessed the HLA-B51 antigen. HLA-B51 was present in 32 of 52 (62%) patients with BD compared with 51 of 175 (29%) unrelated normal controls. Both the pathergy and HLA-B51 tests were negative in four of 52 patients with BD. Behçet's disease is not uncommon in Iraq. Practising physicians, dermatologists, and ophthalmologists must be more aware of its existence. [ABSTRACT FROM PUBLISHER]

A prevalence survey for rheumatoid arthritis was carried out during the summer of 1975 in persons aged 16 years and over in areas of Iraq representative of differences in geography and ethnicity. Definite rheumatoid arthritis was observed in 1% of the 6999 individuals studied, but differences in occurrence rates in relation to various associated characteristics were not detected. It is concluded that present rheumatological services in Iraq have not developed in response to the magnitude of the existing burden. Morning stiffness was reported fairly frequently by individuals without rheumatoid arthritis, but the significance of this observation is not easy to determine. Raynaud's phenomenon was also recorded, but comparative evaluation of the findings is not possible. [ABSTRACT FROM PUBLISHER]

Mutations in the Immunoglobulin mu DNA binding protein 2 (IGHMBP2) gene result in two distinct diseases, SMA with Respiratory Distress Type I (SMARD1) and Charcot Marie Tooth Type 2S (CMT2S). To understand the phenotypic and molecular differences between SMARD1 and CMT2S, and the role of IGHMBP2 in disease development, we generated mouse models based on six IGHMBP2 patient mutations. Previously, we reported the development and characterization of Ighmbp2 D564N/D564N mice and in this manuscript, we examine two mutations: D565N (D564N in mice) and H924Y (H922Y in mice) in the Ighmbp2 H922Y/H922Y and Ighmbp2 D564N/H922Y contexts. We found significant differences between these mouse models, providing critical insight into the role of IGHMBP2 in the pathogenesis of SMARD1 and CMT2S. Importantly, these studies also demonstrate how disease pathogenesis is significantly altered in the context of Ighmbp2 D564N and H922Y homozygous recessive and compound heterozygous mutations. Notably, there were short-lived and long-lived lifespan cohorts within Ighmbp2 D564N/H922Y mice with early (P12/P16) respiratory pathology serving as a key predictor of lifespan. Despite differences in lifespan, motor function deficits initiated early and progressively worsened in all Ighmbp2 D564N/H922Y mice. There was decreased limb skeletal muscle fiber area and increased neuromuscular junction (NMJ) denervation in Ighmbp2 D564N/H922Y mice. Consistent with CMT2S, Ighmbp2 H922Y/H922Y mice did not have altered lifespans nor respiratory pathology. Interestingly, Ighmbp2 H922Y/H922Y limb muscle fibers demonstrated an increase in muscle fiber area followed by a reduction while changes in NMJ innervation were minimal even at P180. This is the first study that demonstrates differences associated with IGHMBP2 function within respiration with those within limb motor function. Significant to our understanding of IGHMBP2 function, we demonstrate that there is a direct correlation between disease pathogenesis associated with these IGHMBP2 patient mutations and IGHMBP2 biochemical activity. Importantly, these studies reveal the dynamic differences that are presented when either a single mutant protein is present (IGHMBP2-D564N or IGHMBP2-H922Y) or two mutant proteins are present (IGHMBP2-D564N and IGHMBP2-H922Y) within cells., Competing Interests: Declaration of competing interest MAL is associated with Shift by family relation., (Copyright © 2024. Published by Elsevier Inc.)

Corona mortis, an anatomical variant documented in the literature, presents a noteworthy concern due to its proximity to the superior pubic ramus. Consequently, it remains susceptible to injury, even in stable, benign fractures of the pelvis, typically addressed through conservative management. Stable pelvic fractures are infrequently associated with complications; therefore, diligent monitoring is often overlooked in clinical practice. However, it becomes crucial, particularly in the elderly population given their suboptimal hemostatic capabilities. The standard approach for managing bleeding associated with pelvic fractures involves superselective embolization, a minimally invasive procedure with favorable outcomes. We present a case involving a 61-year-old female who experienced a stable pelvic fracture following low-energy trauma. Despite the ostensibly benign nature of the fracture, the patient exhibited hemodynamic instability attributable to bleeding from the corona mortis, necessitating embolization. The pelvic fracture itself was managed conservatively, leading to the patient's subsequent discharge in a stable condition. Therefore, we advocate for a comprehensive physical examination, serial hemoglobin monitoring, and additional imaging modalities based on the patient's clinical condition., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Al-Rawi et al.)

Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features. Pathogenic variants in genes encoding cohesin complex structural subunits and regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are the major pathogenic contributors to CdLS. Heterozygous or hemizygous variants in the genes encoding these five proteins have been found to be contributory to CdLS, with variants in NIPBL accounting for the majority (>60%) of cases, and the only gene identified to date that results in the severe or classic form of CdLS when mutated. Pathogenic variants in cohesin genes other than NIPBL tend to result in a less severe phenotype. Causative variants in additional genes, such as ANKRD11, EP300, AFF4, TAF1, and BRD4, can cause a CdLS-like phenotype. The common role that these genes, and others, play as critical regulators of developmental transcriptional control has led to the conditions they cause being referred to as disorders of transcriptional regulation (or "DTRs"). Here, we report the results of a comprehensive molecular analysis in a cohort of 716 probands with typical and atypical CdLS in order to delineate the genetic contribution of causative variants in cohesin complex genes as well as novel candidate genes, genotype-phenotype correlations, and the utility of genome sequencing in understanding the mutational landscape in this population., (© 2023 Wiley Periodicals LLC.)

Spinal muscular atrophy with respiratory distress type I (SMARD1) is a neurodegenerative disease defined by respiratory distress, muscle atrophy and sensory and autonomic nervous system defects. SMARD1 is a result of mutations within the IGHMBP2 gene. We have generated six Ighmbp2 mouse models based on patient-derived mutations that result in SMARD1 and/or Charcot-Marie Tooth Type 2 (CMT2S). Here we describe the characterization of one of these models, Ighmbp2D564N (human D565N). The Ighmbp2D564N/D564N mouse model mimics important aspects of the SMARD1 disease phenotype, including motor neuron degeneration and muscle atrophy. Ighmbp2D564N/D564N is the first SMARD1 mouse model to demonstrate respiratory defects based on quantified plethysmography analyses. SMARD1 disease phenotypes, including the respiratory defects, are significantly diminished by intracerebroventricular (ICV) injection of ssAAV9-IGHMBP2 and the extent of phenotypic restoration is dose-dependent. Collectively, this model provides important biological insight into SMARD1 disease development., (© The Author(s) 2021. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an autosomal recessive disorder that develops in infancy and arises from mutation of the immunoglobulin helicase μ-binding protein 2 ( IGHMBP2 ) gene. Whereas IGHMBP2 is ubiquitously expressed, loss or reduction of function leads to alpha motor neuron loss and skeletal muscle atrophy. We previously developed a gene therapy strategy for SMARD1 using a single-stranded AAV9- IGHMBP2 vector and compared two different delivery methods in a validated SMARD1 mouse model. An important question in the field relates to the temporal requirements for this or any potential treatment. To examine the therapeutic window, we utilized our recently developed SMARD1 model, FVB/NJ- Ighmpb2 nmd-2J , to deliver AAV9- IGHMBP2 at four different time points starting at post-natal day 2 (P2) through P8. At each time point, significant improvements were observed in survival, weight gain, and motor function. Similarly, treatment improved important hallmarks of disease, including motor unit pathology. Whereas improvements were more pronounced in the early-treatment groups, even the later-treatment groups displayed significant phenotypic improvements. This work suggests that an effective gene therapy strategy could provide benefits to pre-symptomatic and early-symptomatic individuals, thereby expanding the potential therapeutic window for SMARD1., Competing Interests: C.L.L. is co-founder and Chief Scientific Officer of Shift Pharmaceuticals. All other authors declare no competing interests., (© 2021 The Authors.)

The relationship between joint mobility and chondromalacia patellae was reported in a prospective study. A total of 115 patients with chondromalacia patellae were compared with 110 healthy individuals without chondromalacia patellae, matched for age and sex, who served as a control group. The degree of joint mobility was scored on a scale of 0-9. The number of individuals with hypermobile joints and the total mobility scores were significantly higher in patients with chondromalacia patellae when compared to the control group (P < 0.001). There were more hypermobile knees among knee joints with chondromalacia patellae when compared with the knees of the control group (P < 0.01). Chondromalacia patellae were bilateral in 57% of our patients. It occurred more frequently in the longer leg and was associated with quadriceps muscle wasting in 50% of patients. Flat feet and backache were reported significantly more often in patients compared with the control group (P < 0.05). It is concluded that hypermobility of the knee joint may be a contributing factor in the pathogenesis of chondromalacia patellae.

The clinical features of the first attack acute rheumatic fever in 32 adults are described in a prospective study. Classical migratory polyarthritis occurred in 11 patients whilst the arthritis in the remaining 21 was additive in type, rapidly becoming symmetrical. The lower limb joints were involved more frequently than those of the upper limb. Mild transient carditis was present in only one patient. All patients showed evidence of antecedent streptococcal infection but none had chorea, subcutaneous nodules or erythema marginatum. The disease ran a benign course so that the sensitivity of the modified Jones criteria for adult rheumatic fever needs re-evaluation. Rheumatic fever is still a significant health problem in Iraq and should always be considered in the differential diagnosis of acute polyarthritis in adults.

The prevalence of joint hypermobility among 1774 university students, aged 20-24 years, in Iraq has been determined from a survey made in 1981. The degree of joint hypermobility was scored on a scale between 0 and 9 using the method described by Beighton in his modification of the Carter and Wilkinson scoring system. Joint hypermobility, defined as a score of 4 out of 9 or greater was found in 25.4% of males and 38.5% of females. The presence of joint complaints, ligamentous sprains, flat feet, Raynaud's phenomenon, easy bruising, high palate and varicose veins correlated well with joint hypermobility and were seen significantly more frequently in students scoring 7 out of 9 or more than in students scoring 3 out of 9 or less. The right (usually dominant) side was significantly less mobile than the left side, whatever the hypermobility score. Physique as expressed by body weight and height did not show any relation to joint mobility.

The clinical features of early cases of systemic lupus erythematosus (SLE) in 67 (55 female and 12 male) patients are reported in a prospective study and its prevalence rate is calculated. The disease accounted for 0.67% of all medical admissions and it was the third most frequent inflammatory rheumatic disease. By comparison with rheumatoid arthritis and extrapolation of the data, the prevalence of SLE was one case per 1867 of the population, one per 1127 of the total female population and for women aged between 10 and 49 years it was one per 616. Multisystem involvement was noted in all patients. Our results were presented and compared with other studies. Significant differences between our study and others were noted with respect to alopoecia, mouth ulcers, pericarditis and pleurisy. Subclinical involvement of the liver was noted in 26% and of the lungs in 19%. Hepatomegaly was noted twice as often in younger compared with older patients. SLE is a disease with an apparently increasing prevalence in Iraq. There is a need for a greater awareness on the part of practising physicians and more widespread availability of sensitive laboratory tests for diagnosis of the disease.

To assess the relation between joint mobility and genital prolapse, joint mobility in 76 women with genital prolapse was compared with that in an age and parity matched control group without prolapse. Mobility was scored on a scale of 0-9. The number of patients with hypermobile joints and the total mobility scores were higher in the genital prolapse group (p less than 0.005), which also had more joint complaints and twice the prevalence of backache when compared with the control group.

Altogether 198 patients (149 female and 49 male) with rheumatoid arthritis, 133 classical and 65 definite by A.R.A. diagnostic criteria, have been studied in Baghdad. The disease pattern and the joint distribution are similar to those in Europe but the disease appears to be generally less destructive; hands are involved more often than the feet, and rheumatoid nodules, severe systemic upset and extra-articular manifestations appear to be less common.

The clinical features of acute Brucella arthritis were reported in a prospective study of 58 patients (29 male, 29 female). Polyarthritis occurred in 33, was migratory in ten, additive in 23 and symmetrical in ten. Monoarthritis of knee or hip joints occurred in ten patients, whilst the spine alone was involved in 15. Hip and spinal involvement was more destructive than peripheral joint involvement. Hotness, redness and joint effusions were not prominent features. Tissue-typing did not show any association with Brucella arthritis. Treatment with various antimicrobials was followed by recovery, but the relapse rate was lowest with combined tetracycline and streptomycin. Brucella arthritis is frequently seen in Iraq, and dairy products prepared locally from unpasteurized milk should be controlled by local health authorities.