Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease.

Microtubules help building the cytoskeleton of neurons and other cells. Several components of the gamma-tubulin (γ-tubulin) complex have been previously reported in human neurodevelopmental diseases. We describe two siblings from a consanguineous Turkish family with dysmorphic features, developmental delay, brain malformation, and epilepsy carrying a homozygous mutation (p.Glu311Lys) in TUBGCP2 encoding the γ-tubulin complex 2 (GCP2) protein. This variant is predicted to disrupt the electrostatic interaction of GCP2 with GCP3. In primary fibroblasts carrying the variant, we observed a faint delocalization of γ-tubulin during the cell cycle but normal GCP2 protein levels. Through mass spectrometry, we observed dysregulation of multiple proteins involved in the assembly and organization of the cytoskeleton and the extracellular matrix, controlling cellular adhesion and of proteins crucial for neuronal homeostasis including axon guidance. In summary, our functional and proteomic studies link TUBGCP2 and the γ-tubulin complex to the development of the central nervous system in humans

Impact of opioid-free analgesia on pain severity and patient satisfaction after discharge from surgery: multispecialty, prospective cohort study in 25 countries

Background: Balancing opioid stewardship and the need for adequate analgesia following discharge after surgery is challenging. This study aimed to compare the outcomes for patients discharged with opioid versus opioid-free analgesia after common surgical procedures.Methods: This international, multicentre, prospective cohort study collected data from patients undergoing common acute and elective general surgical, urological, gynaecological, and orthopaedic procedures. The primary outcomes were patient-reported time in severe pain measured on a numerical analogue scale from 0 to 100% and patient-reported satisfaction with pain relief during the first week following discharge. Data were collected by in-hospital chart review and patient telephone interview 1 week after discharge.Results: The study recruited 4273 patients from 144 centres in 25 countries; 1311 patients (30.7%) were prescribed opioid analgesia at discharge. Patients reported being in severe pain for 10 (i.q.r. 1-30)% of the first week after discharge and rated satisfaction with analgesia as 90 (i.q.r. 80-100) of 100. After adjustment for confounders, opioid analgesia on discharge was independently associated with increased pain severity (risk ratio 1.52, 95% c.i. 1.31 to 1.76; P < 0.001) and re-presentation to healthcare providers owing to side-effects of medication (OR 2.38, 95% c.i. 1.36 to 4.17; P = 0.004), but not with satisfaction with analgesia (beta coefficient 0.92, 95% c.i. -1.52 to 3.36; P = 0.468) compared with opioid-free analgesia. Although opioid prescribing varied greatly between high-income and low- and middle-income countries, patient-reported outcomes did not.Conclusion: Opioid analgesia prescription on surgical discharge is associated with a higher risk of re-presentation owing to side-effects of medication and increased patient-reported pain, but not with changes in patient-reported satisfaction. Opioid-free discharge analgesia should be adopted routinely

Can Carpobrotus edulis, heal incisional and excisional wounds on the skin?

OBJECTIVES: This study aimed to investigate the wound healing activity of liposomal Carpobrotus edulis powder extract (CEPE) formulation on incisional and excisional wounds in rat. BACKGROUND: In the event of any damage, the damaged tissue undergoes a process of regenerating itself, which is called wound healing. METHODS: Centella asiatica extract (CAE) was used as the reference molecule in the study. The wound healing process was tested by using the excisional and incisional wound model. On the 12th day of the study, maximum stress, stress, % of elongation values were evaluated in the incisional wound. Also; histological parameters and macroscopic photographic analyses were evaluated in the excisional wound. RESULTS: In the photo evaluations, the improvement was more prominent in both CAE and CEPE groups than in the control group. Histological evaluation showed that CEPE group had signifi cant wound healing activity compared to the control and CAE groups. Axial tensile-elongation experiments in incisional wound tissue show that there was no signifi cant difference between CAE and CEPE groups. CONCLUSION: Liposomal formulations of C.edulis extract were found to have positive effects on the healing process, both on excisional and incisional wound tissues (Tab. 2, Fig. 3, Ref. 30)

HOW DO WE FOLLOW THE GUIDELINES IN THE TREATMENT OF PATIENTS WITH TYPE 2 DIABETES?

Objective: We aimed to retrospectively investigate compliance with guidelines in order to increase the awareness of physicians towards current treatment approaches and goals in Type 2 diabetes mellitus (DM)

Autosomal recessive variants in TUBGCP2 alter the gamma-tubulin ring complex leading to neurodevelopmental disease

Microtubules help building the cytoskeleton of neurons and other cells. Several components of the gamma-tubulin (gamma-tubulin) complex have been previously reported in human neurodevelopmental diseases. We describe two siblings from a consanguineous Turkish familywith dysmorphic features, developmental delay, brain malformation, and epilepsy carrying a homozygous mutation (p.Glu311Lys) in TUBGCP2 encoding the gamma-tubulin complex 2 (GCP2) protein. This variant is predicted to disrupt the electrostatic interaction of GCP2 with GCP3. In primary fibroblasts carrying the variant, we observed a faint delocalization of gamma-tubulin during the cell cycle but normal GCP2 protein levels. Through mass spectrometry, we observed dysregulation of multiple proteins involved in the assembly and organization of the cytoskeleton and the extracellular matrix, controlling cellular adhesion and of proteins crucial for neuronal homeostasis including axon guidance. In summary, our functional and proteomic studies link TUBGCP2 and the gamma-tubulin complex to the development of the central nervous system in humans

Picturing asthma in Turkey: results from the Turkish adult asthma registry

Introduction: National data on asthma characteristics and the factors associated with uncontrolled asthma seem to be necessary for every country. For this purpose, we developed the Turkish Adult Asthma Registry for patients with asthma aiming to take a snapshot of our patients, thereby assigning the unmet needs and niche areas of intervention. Methods: Case entries were performed between March 2018 and March 2022. A web-based application was used to record data. Study outcomes were demographic features, disease characteristics, asthma control levels, and phenotypes. Results: The registry included 2053 patients from 36 study centers in Turkey. Female subjects dominated the group (n = 1535, 74.8%). The majority of the patients had allergic (n = 1158, 65.3%) and eosinophilic (n = 1174, 57.2%) asthma. Six hundred nineteen (32.2%) of the patients had obese asthma. Severe asthma existed in 670 (32.6%) patients. Majority of cases were on step 3–5 treatment (n: 1525; 88.1%). Uncontrolled asthma was associated with low educational level, severe asthma attacks in the last year, low FEV1, existence of chronic rhinosinusitis and living in particular regions. Conclusion: The picture of this registry showed a dominancy of middle-aged obese women with moderate-to-severe asthma. We also determined particular strategic targets such as low educational level, severe asthma attacks, low FEV1, and chronic rhinosinusitis to decrease uncontrolled asthma in our country. Moreover, some regional strategies may also be needed as uncontrolled asthma is higher in certain regions. We believe that these data will guide authorities to reestablish national asthma programs to improve asthma service delivery

Characteristics of asthma in an older adult population according to sex and control level: why are asthma symptoms in older women not well-controlled?

ObjectiveThe older adult population in Turkey has increased by 22.6% in the last 5 years, and the characteristics of such patients with asthma remain uninvestigated. Therefore, we aimed to evaluate the characteristics of older adults with asthma according to sex and asthma control status to provide an in-depth overview of asthma in this population in Turkey.MethodsThe data of older adults (age 65 years and over) with asthma were obtained from a multicenter, cross-sectional asthma database registry (Turkish Adult Asthma Registry, TAAR) funded by the Turkish Thoracic Society. Comparisons were made based on sex and asthma control levels using the Global Initiative for Asthma (GINA) Asthma Symptom Control Questionnaire.ResultsOf the 2053 (11.5%) patients registered with the TAAR, 227 were older adults (median age, 69 (8), women, 75.8% (n = 172)). Of these, 46.5% (n = 101) had obesity to some degree. Compared with men, women had lower education, income levels, and employment rates. Additionally, women exhibited a higher prevalence of obesity, hypertension, and thyroid gland disease than men. Being female (OR: 2.99; 95% CI: 1.307-6.880), the presence of gastroesophageal reflux disease (OR: 2.855; 95% CI: 1.330-6.130), and a predicted forced expiratory volume in the first-second value lower than 80% (OR: 2.938; 95% CI: 1.451-5.948) were associated with poorly controlled asthma.ConclusionsHerein, older adults comprised 11.5% of adult patients with asthma. Being female poses a disadvantage in terms of both asthma prevalence and control in the older adult asthmatic population owing to the prevalence of comorbidities and socioeconomic sex-related distinguishing factors