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The Variant p.Ala84Pro Is Causative of X-Linked Hypophosphatemic Rickets: Possible Relationship with Burosumab Swinging Response in Adults.

Loss of function mutations in the gene could determine X-linked dominant hypophosphatemia. This is the most common form of genetic rickets. It is characterized by renal phosphate wasting determining an increase in fibroblast growth factor 23 (FGF-23), growth retard, bone deformities and musculoskeletal manifestations. In recent decades, analysis of the gene has revealed numerous different mutations. However, no clear genotype-phenotype correlations have been reported in patients with hypophosphatemic rickets (XLH). We report two cases of a 28-year-old-male (patient 1) and a 19-year-old male (patient 2) affected by XLH initially treated with phosphate and 1,25-dihydroxyvitamin-D admitted to the Endocrinology unit because of the persistence of muscle weakness, bone pain and fatigue. After phosphate withdrawal, both patients started therapy with burosumab and symptoms ameliorated in three months. However, patient 1's biochemical parameters did not improve as expected so we decided to investigate his genetic asset. We herein describe a possible clinical implication for the missense "de novo" mutation, c.250G>C (p.Ala84Pro) in the gene, reported in the database and classified as a variant of uncertain significance (VUS). The clinical implication of this mutation on disease burden and quality of life in adults is still under investigation.

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Acute appendicitis in the short term following radical total gastrectomy misdiagnosed as duodenal stump leakage: A case report.

Common diseases after radical gastrectomy include cholecystitis and pancreatitis, but the sudden onset of acute appendicitis in a short period following radical gastrectomy is very rare, and its clinical symptoms are easily misdiagnosed as duodenal stump leakage.

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Differential Antinociceptive Efficacy of Peel Extracts and Lyophilized Juices of Three Varieties of Mexican Pomegranate ( L.) in the Formalin Test.

Pharmacological treatment of pain often causes undesirable effects, so it is necessary to look for natural, safe, and effective alternatives to alleviate painful behavior. In this context, it is known that different parts of pomegranate have been widely consumed and used as preventive and therapeutic agents since ancient times. For example, it has been shown to have an antinociceptive effect, however, there are many varieties. Each part has been found to display unique and attractive pharmacological activities. The content of the active phytochemicals in pomegranate depends on the cultivar, geographical region, the maturity, and the processing method. In this context, the effects of various pomegranate varieties and other parts of the pomegranate (e.g., peel and juice) on pain behavior have not been examined. The aim was to evaluate and compare the antinociceptive effect of ethanolic extracts (PEx) and lyophilized juices (Lj) of three varieties of pomegranate in the formalin test. In addition, computer-aided analysis was performed for determining biological effects and toxicity. Peels were extracted with ethanol and evaporated by rotary evaporation, and juices were filtered and lyophilized. Wistar rats ( = 48) were randomly distributed into 8 groups ( = 6) (Vehicle, Acetylsalicylic Acid, PEx1, PEx2, PEx3, Lj1, Lj2, and Lj3). The formalin test (2%) was carried out, which consists of administering formalin in paw and counting the paw flinches for 1 h, with prior administration of treatments. All samples have an antinociceptive effect (phase 1: 2.8-10%; phase 2: 23.2-45.2%). PEx2 and Lj2 had the greatest antinociceptive effect (57.8-58.9%), and bioactive compounds such as tannins and flavonoids showed promising pharmacodynamic properties that may be involved in the antinociceptive effect, and can be considered as a natural alternative for the treatment of nociceptive and inflammatory pain.

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Test-Retest Reliability and Concurrent Validity of the 3 m Backward Walk Test under Single and Dual-Task Conditions in Women with Fibromyalgia.

Previous studies have reported good test-retest reliability for the 3 m backward test (3MBWT) in different populations. However, reliability of the 3MBWT has not been studied in fibromyalgia (FM) under single and dual-task conditions; Methods: A total of 21 women with FM participated in this study. Participants completed the Revised Fibromyalgia Impact Questionnaire and two physical fitness tests: the 3MBWT and the Timed Up and Go (TUG). The dual-task condition consisted of subtracting two by two while performing the test, starting from a random number less than 100; Results: Values showed that the 3MBWT can be considered reliable under single and dual-task conditions when measured with both a manual stopwatch and a Chronopic automatic stopwatch. A strong concurrent validity was shown of 3MBWT and TUG results in the test and retest and the different devices. The relationship between the performance of the 3MBWT in test and retest conditions under single and dual-task conditions measured with different devices and the impact of the disease were high; Conclusions: The 3MBWT is a reliable tool under the single and dual-task conditions in women with FM. It shows higher reliability values when time is taken using a Chronopic. This test also shows high concurrent validity with the TUG test. Its performance is related to the impact of the disease.

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The facets of psychopathology in patients with cancer: Cross-sectional and longitudinal network analyses.

Cancer patients display heterogeneous psychopathology, comprising depressive, anxiety, hostility, and somatic symptoms. Often, clinical pictures evolve over time deteriorating the individual functioning and prognosis. Network models can reveal the relationships between symptoms, thus providing clinical insights.

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When Less Is More – Pipelle Endometrial Sampling for Quantification of Uterine Natural Killer Cells in Patients With Recurrent Implantation Failure or Habitual Abortion.

Despite recent advancements in reproductive medicine, recurrent implantation failure and habitual abortion remain ongoing issues. One of the most important aspects of successful implantation is the intricate immune response and regulation necessary for the acceptance of the hemiallogenic embryo. The most numerous immune cells in the decidua are uterine natural killer cells (uNK). Studies suggest that changes in the uNK count and physiology may be responsible for the aforementioned pathological conditions. Thus, testing for uNK may provide valuable insights into their pathogenesis. The study compared Pipelle endometrial sampling with conventional curettage to find out whether the less invasive Pipelle method is a viable alternative of tissue collection. Tissue samples from 14 patients obtained by both methods were examined. The average size of tissue samples obtained with Pipelle was 17 mm2, samples obtained with curettage had on average 34 mm2. Using immunohistochemical visualization of CD56 (NK cells) and granzyme B antigens (serine protease-expressing activation state of NK cells), it was found that the average total count of CD56 / mm2 was for Pipelle 115 and 120 for curettage, respectively. The study also proved a correlation between granzyme B positivity and identification of NK cells clusters. The results indicated that Pipelle endometrial sampling seems a suitable method of tissue harvesting for the purpose of uNK cells examination. Pipelle endometrial sampling is safe, cost-effective and can be performed on an outpatient basis without the need of anesthesia or analgesia. Several issues remain yet to be solved: how to standardize the subsequent uNK testing, how to interpret the results and finally yet importantly, how to use this knowledge in personalized treatment protocols.

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In vitro and in vivo anti-osteoarthritis effects of tradition Chinese prescription Ji-Ming-San.

Ji-Ming-Shan (JMS) is a traditional herbal prescription consisting of seven herbs including Areca cathechu Burm.f., Citrus reticulata Blanco, Chaenomeles speciosa (Sweet) Nakai, Euodia ruticarpa (A. Juss.) Benth., Perilla frutescens (L.) Britton, Zingiber officinale Roscoe, Platycodon grandiflorus (Jacq.). It was first recorded during the Song dynasty and has been used extensively for protection against rheumatism, treatment of swelling of tendons, relief from foot pain, gout and diuresis and other forms of inflammation.

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Superior clinical results for early arthroscopic treatment of grade IIIb and V acromioclavicular joint instability compared to delayed operative treatment.

Arthroscopic assisted cortical fixation devices have been increasingly used in the operative management of both acute and chronic cases of acromioclavicular joint instability (ACJI). It has been hypothesized that delayed surgical management leads to inferior clinical and radiological outcomes compared to acute treatment. The purpose of this study is to compare clinical and radiologic outcomes, scapula dyskinesia, and failure/revision rates of arthroscopically treated acute with chronic ACJI.

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Efficacy of dexmedetomidine as adjuvant to bupivacaine in femoral-sciatic nerve blocks in dogs undergoing tibial plateau levelling osteotomy (TPLO).

The aim of this randomized, prospective clinical study was to evaluate the efficacy of dexmedetomidine combined with bupivacaine on sciatic and femoral nerve blocks in dogs. Thirty dogs were selected for elective unilateral tibial plateau levelling osteotomy, and each subject was assigned randomly to receive perineural bupivacaine 0.5% (0.1 mL/kg) and intramuscular dexmedetomidine (0.5 μg/kg) in the BDs group, perineural bupivacaine 0.5% (0.1 mL/kg) plus dexmedetomidine (0.5 μg/kg) in the BDloc group, and perineural bupivacaine 0.5% (0.1 mL/kg) plus intramuscular administration of saline solution the in Bupi group. Nerve blocks were guided by electrolocation. The main intraoperative parameters were registered 10 min before the start of surgery (BASE) and during the skin incision (SKIN), the osteotomy (BONE) and the suture (SUTURE). At 2, 4, 6, 8, 10, 15, 20 and 24 h after blocks, the Glasgow Composite Pain scale (GPCs) was used to identify the degree of pain during the postoperative period. Patients with scores ≥5/20 received rescue analgesia and were excluded. Furthermore, heart rate, mean arterial pressure, footstep capacity, reaction to wound touch and femoral and sciatic skin sensitivity were registered. Parametric data were compared at each time point of the study with the one-way ANOVA for repeated measures and Fisher's test for yes/no variables analysis (p < 0.05). No subject required intraoperative rescue analgesia. In BDloc group, the GCPs score was <5/20 for all dogs at all times of the study, and 70% of dogs did not need systemic analgesia. In the Bupi and BDs groups, 100% of subjects achieved a score ≥ 5/20 between 8 and 10 h after the blocks, and 100% of subjects showed femoral and sciatic skin sensitivity and required rescue analgesia within 10 h. Our results showed that the addition of dexmedetomidine as an adjuvant to bupivacaine in SF blocks may prolong the sensory block and ensure sufficient analgesia for up to 24 h in dogs undergoing TPLO surgery.

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Impact of isolation on the biopsychosocial functioning of older people with COVID-19.

COVID-19 is a highly contagious coronavirus disease that has had a significant impact on the functioning of society. On 11 March 2020, due to the rapid spread of the virus, the WHO declared a global pandemic. By the end of 2021, 5 variants of SARS-CoV-2 had been identified since the beginning of the pandemic. The course of the disease varied depending on the age of the patients and the presence of possible comorbidities. Most patients were asymptomatic or sparsely symptomatic of the infection; however, in about 6% of cases, the course of the disease was critical. Typical symptoms of COVID-19 include: fever, muscle pain and headache, lack of smell and taste, cough, dyspnea, diarrhoea and nausea. According to epidemic guidelines, infected patients were subjected to isolation, which harmed their mental state, especially the elderly.

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