Delineation of ADPRHL2 Variants: Report of Two New Patients with Review of the Literature.

ADPRHL2 is involved in posttranslational modification and is known to have a role in physiological functions such as cell signaling, DNA repair, gene control, cell death, and response to stress. Recently, a group of neurological disorders due to ADPRHL2 variants is described, characterized by childhood-onset, stress-induced variable movement disorders, neuropathy, seizures, and neurodegenerative course. We present the diagnostic pathway of two pediatric patients with episodic dystonia and ataxia, who later had a neurodegenerative course complicated by central hypoventilation syndrome due to the same homozygous ADPRHL2 variant. We conducted a systematic literature search and data extraction procedure following the Preferred Reporting Items for Systematic Review and Meta-Analysis 2020 statement in terms of patients with ADPRHL2 variants, from 2018 up to 3 February, 2023. In total, 12 articles describing 47 patients were included in the final analysis. Median age at symptom onset was 2 (0.7-25) years, with the most common presenting symptoms being gait problems (n = 19, 40.4%), seizures (n = 16, 34%), ataxia (n = 13, 27.6%), and weakness (n = 10, 21.2%). Triggering factors (28/47; 59.5%) and regression (28/43; 60.4%), axonal polyneuropathy (9/23; 39.1%), and cerebral and cerebellar atrophy with white matter changes (28/36; 77.7%) were the other clues. The fatality rate and median age of death were 44.6% (n = 21) and 7 (2-34) years, respectively. ADPRHL2 variants should be considered in the context of episodic, stress-induced pediatric and adult-onset movement disorders and seizures.

Impact of Spinal Surgery on Intrathecal Nusinersen Injections in Pediatric Spinal Muscular Atrophy.

BACKGROUND: Complex spinal deformities necessitate surgical interventions that may intervene with intrathecal injections in patients with spinal muscular atrophy (SMA). This study aimed to determine the effect of spinal deformity correction surgery on nusinersen administration. METHODS: Pediatric patients with SMA, operated by a single surgeon, either via magnetically controlled growing rod (MCGR) or definitive fusion (DF) with skip instrumentation, were evaluated retrospectively in terms of safety and feasibility of intrathecal injections. Patients' and their parents' perspectives were evaluated through a questionnaire regarding any shift in the setting of injections. RESULTS: Fourteen patients with 15 spinal surgeries (10 MCGR and 5 DF) were included. Eleven patients received intrathecal treatment both before and after the surgery. Preoperative (n=3) and postoperative (n=9) fluoroscopic guidance was required leading to a shift in the application settings in 6 patients. Of 106 preoperative injections, 15% required fluoroscopy and 2% required anesthesia. Postoperatively, of 88 injections, 73% required fluoroscopy and 26% required anesthesia. No patients discontinued intrathecal injections due to technical difficulties associated with the spinal surgery. CONCLUSIONS: This study demonstrates that spinal surgery does not prevent safe and successful intrathecal nusinersen injections. In the DF group, the skip instrumentation technique provided access to interlaminal space for intrathecal injections. In either surgical group, no further auxillary approach was required. Modifications in the injection technique require an institutional approach, and concerns of patients and their families should be addressed accordingly. LEVEL OF EVIDENCE: IV.

Analysis of factors influencing target PASI responses and side effects of methotrexate monotherapy in plaque psoriasis: a multicenter study of 1521 patients.

Methotrexate (MTX) is commonly used as first-line systemic treatment agent in psoriasis. We aimed to evaluate the clinical characteristics and treatment responses of patients with psoriasis undergoing MTX monotherapy. Data from adult patients with plaque psoriasis who received MTX monotherapy for at least 3 months between April 2012 and April 2022 were retrospectively evaluated in 19 tertiary care centers. Our study included 722 female and 799 male patients, a total of 1521 participants. The average age of the patients was 44.3 ± 15.5 years. Mode of treatment was oral in 20.4% of patients while in 79.4% it was subcutaneous. The median treatment duration was 8 months (IQR = 5-15). The median weekly dose was 15 mg (IQR = 11-15). 1448 (95.2%) patients were taking folic acid supplementation. At week 12, 16.3% of the patients achieved PASI (Psoriasis Area and Severity Index) 90 response while at week 24, 37.3% achieved it. Logistic regression analysis for week 12 identified the following independent factors affecting PASI 90 achievement positively: median weekly MTX dose ≤ 15 mg (P = 0.011), subcutaneous administration (P = 0.005), no prior systemic treatment (< 0.001) and folic acid use (0.021). In logistic regression analysis for week 24; median weekly MTX dose ≤ 15 mg (P = 0.001), baseline PASI ≥ 10 (P < 0.001), no prior systemic treatment (P < 0.004), folic acid use (P = 0.001) and absence of comorbidities (P = 0.009) were determined as independent factors affecting the achievement of PASI 90. Adverse effects were observed in 38.8% of the patients, with nausea/vomiting (23.9%) and transaminase elevation (13%) being the most common. The most common reasons for interruptions (15.3%) and discontinuations (27.1%) of the treatment were patient related individual factors. The use of MTX as the first systemic treatment agent, at doses ≤ 15 mg/week and concurrent folic acid application are positive predictive factors for achieving the target PASI response both at weeks 12 and 24. In our study, which is one of the most comprehensive studies on MTX treatment in psoriasis, we observed that MTX is an effective and safe treatment option.

Acute generalized exanthematous pustulosis after ceftriaxone use resembling sepsis.

Acute generalized exanthematous pustulosis is an uncommon disorder, characterized by the acute onset of multiple pruritic, small, nonfollicular, sterile, superficial pustules over erythematous and edematous skin. It is frequently caused by medications, mainly antibiotics, and particularly beta-lactams. It is a rare condition that is not well known in infectious disease practice. We report a case of ceftriaxone-induced acute generalized exanthematous pustulosis that presented with the appearance of sepsis. After discontinuation of ceftriaxone, the findings were improved.

The potential for using the needle litter of Scotch pine (Pinus sylvestris L.) as a raw material for particleboard manufacturing.

Particleboard panels were made from various wood particle/needle litter of Scotch pine (Pinus sylvestris L.) mixtures bonded with urea formaldehyde resin. Litter was characterized by having higher solubility's in alcohol-benzene, with diluting alkali and hot water, and resulted in lower pH values than those of wood particles. The mechanical properties (modulus of rupture, modulus of elasticity, and internal bond strength) of boards containing up to 6.25% litter were lower than those of panels made from wood particles. However, needle litter usage improved the physical property (thickness swelling) and decay resistance of the panels, significantly. Panels consist of 6.25% and 12.50% needle litter met the minimum EN standard requirements of mechanical properties for general-purposes. Particleboards contain more than 50% needle litter had the required level of thickness swelling for 24 h immersion.

Eosinophilic angiocentric fibrosis of the orbit.

A 30-year-old woman complained of right-sided epiphora for 2 years. She also reported diplopia on certain gaze positions and felt a hard mass behind the right medial inferior orbital rim. Magnetic resonance imaging studies demonstrated a relatively well-delineated mass in the right inferomedial orbit with minimal ethmoid sinus involvement. Histopathological evaluation following a large incisional biopsy showed massive eosinophilic infiltration and fibrosis with the final diagnosis of eosinophilic angiocentric fibrosis. She was then discovered to have significant peripheral eosinophilia and elevated serum IgE levels and clinical findings of allergic rhinitis and sinusitis. She was treated with systemic fluorocortolon and desloratadin for 4 months. She remained stable without recurrence for 32 months. The patient with this exceptionally rare tumour of the orbit benefited from debulking surgery followed by systemic corticosteroids and antihistaminics.

Neurofibromatosis type 2: optic nerve sheath meningioma in one orbit, intramuscular schwannoma in the other.

A highly unusual patient with neurofibromatosis type 2 (NF2) presenting with simultaneous bilateral orbital tumors is described. A 12-year-old girl with a family history of NF2 was examined because of bilateral proptosis. Visual acuities were light perception RE and 20/40 LE. Magnetic resonance imaging studies showed bilateral cerebellopontine angle tumors, a tumor surrounding the right intraorbital optic nerve, and a large left lateral orbital mass mixed with the lateral rectus muscle. The histopathological diagnoses following incisional biopsies were right optic nerve sheath meningioma and left intramuscular schwannoma. The left-sided orbital schwannoma and the right-sided vestibular schwannoma were treated with fractionated stereotactic radiotherapy. This patient enlarges the spectrum of clinical presentations that can be encountered at young age in patients with NF2.

Evaluation of the mechanical, physical properties and decay resistance of particleboard made from particles impregnated with Pinus brutia bark extractives.

The mechanical, physical properties and decay resistances of particleboard made from particles impregnated with Pinus brutia bark extractives were examined. Properties included were modulus of rupture, modulus of elasticity, internal bond, thickness swelling, and weight loss according to European standards. The results showed that particleboards made from particles impregnated with bark extractives had significantly lower mechanical values than those made from unimpregnated particles. Impregnating wood particles with bark extractives improved the decay resistance and thickness swelling of particleboard. Increasing concentration of the extractives decreased the mechanical properties and improved the thickness swelling and decay resistance of the panels. Particleboards made from 1% P. brutia bark extractives met the specifications for modulus of rupture and internal bond strength for general purposes.

Mechanical properties and decay resistance of wood-polymer composites prepared from fast growing species in Turkey.

Some mechanical properties of wood-polymer composites from maritime pine (Pinus pinaster Ait.) and poplar (Populus x. euramericana cv. I-214) wood were investigated. Three different monomers; styrene (ST), methyl methacrylate (MMA) and styrene/methyl methacrylate (ST/MMA) mixture were used in preparation of wood-polymer composites (WPCs). Full-loading (FL), half-loading (HL) and quarter-loading (QL) were used as polymer content levels. Untreated pine and pine-polymer composite samples were tested in compression strength parallel to grain and static bending strength. WPCs mechanical properties increased compared to untreated wood. The polymer had greater effect on the strengths of the ST/MMA treated pine than on the ST and MMA treated pine samples. Increasing of the mechanical properties should improve the structural competitiveness of WPCs made from fast growing-low density woods. Weight losses due to fungal attack for pine and poplar-polymer composites were also determined. Although polymers at full and half loading levels helped decreasing weight losses due to both fungi for each wood species, weight losses were still found to be higher.

Optimization of lead adsorption of mordenite by response surface methodology: characterization and modification.

BACKGROUND: In order to remove heavy metals, water treatment by adsorption of zeolite is gaining momentum due to low cost and good performance. In this research, the natural mordenite was used as an adsorbent to remove lead ions in an aqueous solution. METHODS: The effects of adsorption temperature, time and initial concentration of lead on the adsorption yield were investigated. Response surface methodology based on Box-Behnken design was applied for optimization. Adsorption data were analyzed by isotherm models. The process was investigated by batch experiments; kinetic and thermodynamic studies were carried out. Adsorption yields of natural and hexadecyltrimethylammonium-bromide-modified mordenite were compared. RESULTS: The optimum conditions of maximum adsorption (nearly 84 percent) were found as follows: adsorption time of 85-90 min, adsorption temperature of 50°C, and initial lead concentration of 10 mg/L. At the same optimum conditions, modification of mordenite produced 97 percent adsorption yield. The most appropriate isotherm for the process was the Freundlich. Adsorption rate was found as 4.4. Thermodynamic calculations showed that the adsorption was a spontaneous and an exothermic process. CONCLUSIONS: Quadratic model and reduced cubic model were developed to correlate the variables with the adsorption yield of mordenite. From the analysis of variance, the most influential factor was identified as initial lead concentration. At the optimum conditions modification increased the adsorption yield up to nearly 100 percent. Mordenite was found an applicable adsorbent for lead ions especially in dilute solutions and may also be applicable in more concentrated ones with lower yields.