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2.
Florence Nightingale J Nurs ; 31(2): 91-96, 2023 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-37404211

RESUMEN

AIM: This study investigated whether breast cancer patients had ever applied for Cancer Early Diagnosis Screening and Training Centers (KETEM). METHOD: This study, conducted from November 2020 to April 2021, adopts a cross-sectional research design and is planned as a survey study. The "Diagnosis Rates with Screening Programs in Breast Cancer Patients" survey was conducted on women over 45 who were diagnosed with breast cancer in the Medical Oncology Clinic of Izmir Katip Çelebi University Atatürk Education and Research Hospital. Further information about the cancer stage was gathered from the Medical Oncology outpatient clinic file records. Data obtained in the study were evaluated using the the Statistical Package for Social Sciences version 26.0 software (IBM Corp.; Armonk, NY, USA), using the number, percentage distribution, arithmetic mean, and chi-square test methods. RESULTS: It has been determined that most patients diagnosed did not receive a diagnosis through screening programs, were not aware of KETEM, and did not apply to KETEM. A positive relationship was found between the level of education and participation in screening programs. It was observed that women who knew about the KETEM's participated more often in the scans. CONCLUSION: The study discovered a lack of knowledge and inadequacy in screening programs for patients with breast cancer. We believe that it is essential to introduce and disseminate KETEMs so that cancers can be detected early through screening.

3.
Turk J Pediatr ; 65(2): 309-320, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37114696

RESUMEN

BACKGROUND: This study aimed to evaluate the etiology and prognosis of patients followed up for pediatric acute arterial ischemic stroke. METHODS: The clinical characteristics and etiology of patients aged 1 month-18 years who had acute arterial ischemic stroke between January 2010 and December 2020 were retrospectively evaluated. At last follow-up, the patients` functionality (Barthel Index, Functional Independence Measure), quality of life (SF-36 questionnaire), and motor outcomes (Gross Motor Function Classification System) were recorded prospectively/crosssectionally. RESULTS: Forty children (25 boys) with a median current age of 112.5 months (range: 3.6-294) were included in the study. The most frequent etiology was prothrombotic disorders, and the most important factor associated with long-term mortality was valvular heart disease. Of the 27 (67.5%) surviving patients, 29.6% had positive motor outcomes and 29.6% were independent according to the Barthel Index. In terms of quality of life, SF-36 scores were highest in the pain scale and lowest in emotional role difficulty. CONCLUSIONS: Determining the etiology and evaluating prognosis are important to plan effective treatment and rehabilitation for pediatric acute arterial ischemic stroke.


Asunto(s)
Isquemia Encefálica , Accidente Cerebrovascular Isquémico , Accidente Cerebrovascular , Masculino , Niño , Humanos , Accidente Cerebrovascular/complicaciones , Estudios Retrospectivos , Accidente Cerebrovascular Isquémico/complicaciones , Calidad de Vida , Factores de Riesgo
4.
BMC Oral Health ; 23(1): 185, 2023 03 30.
Artículo en Inglés | MEDLINE | ID: mdl-36997970

RESUMEN

BACKGROUND: This study aimed to evaluate the impact of various surface treatments on the shear bond strength (SBS) of polyetheretherketone (PEEK) and polyetherketoneketone (PEKK) polymers to indirect laboratory composite (ILC) and lithium disilicate ceramic (LDC) veneering materials. METHODS: Polymer specimens (7 × 7x2 mm) were sectioned from PEEK and PEKK discs (N = 294) and randomly allocated to 7 groups (n = 20); untreated (Cnt), plasma (Pls), 98% sulfuric acid (Sa), sandblasting with 110 µm Al2O3 (Sb), tribochemical silica coating with 110 µm silica modified Al2O3 (Tbc), Sb + Sa, Tbc + Sa. Scanning electron microscopy assessments were performed on one sample of each treatment group, and veneering materials were applied to the remaining specimens (n = 10). The specimens were subjected to the SBS test after being soaked in distilled water (24 h, 37 °C). Three-way ANOVA, independent sample t-test, and Tukey HSD test were performed for statistical analyses (α = .05). RESULTS: The surface treatment, polymer, veneering material types, and their interactions were significant on SBS results according to the 3-way ANOVA (p < 0.001). The SBS values of ILC veneered groups were significantly higher than LDC groups, regardless of surface treatment and polymer type (p < 0.05). The highest SBS values were obtained for Sa-applied ILC veneered PEEK (21.55 ± 1.45 MPa) and PEKK (17.04 ± 1.99 MPa) polymer groups (p < 0.05). CONCLUSION: The effect of surface treatment and veneering materials may be significant on the SBS values of PAEKs. Therefore, the application parameters of surface treatments should be more specified for the applied veneering material and polymer type.


Asunto(s)
Resinas Compuestas , Recubrimiento Dental Adhesivo , Resistencia al Corte , Resinas Compuestas/química , Recubrimiento Dental Adhesivo/métodos , Cetonas/química , Ensayo de Materiales , Polietilenglicoles/química , Polímeros , Dióxido de Silicio , Propiedades de Superficie
5.
Acta Neurol Belg ; 122(6): 1575-1581, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-35987972

RESUMEN

INTRODUCTION: Epilepsy is one of the leading chronic diseases of childhood, and an underlying IEM is an etiology that can easily be overlooked. The aim of this study was to determine the frequency of metabolic disease in patients diagnosed with epilepsy in the first two years of life, as well as to determine the clinical, radiological, and electroencephalographic (EEG) characteristics of the metabolic disease subtypes associated with epilepsy and evaluate treatment response in our study. MATERIALS AND METHODS: The records of patients diagnosed with epilepsy before the age of 2 years in our pediatric neurology clinic between 2014 and 2021 were reviewed retrospectively. Those diagnosed with an IEM and followed up in the pediatric neurology and pediatric metabolism departments of our hospital were included in the study. RESULTS: A total of 990 patients under the age of 2 years were diagnosed with epilepsy in the pediatric neurology clinic of our hospital and 74 (7.5%) of them had IEM. Thirty-nine (52.7%) of the 74 patients were female. The median age at admission was 144 days (min-max: 0-284). Of the 74 patients diagnosed with metabolic epilepsy, 38 patients were diagnosed with amino acid metabolism disorder, 17 with lysosomal storage disease, 9 with energy metabolism disorder, 5 with vitamin/cofactor/trace element metabolism disorders, 2 with fatty acid metabolism disorder, 2 with peroxisomal disease, and 1 with carbohydrate metabolism disorder. Epilepsy was refractory despite appropriate treatment in 39 patients (52.7%). CONCLUSION: Inborn errors of metabolism are a rare cause of epilepsy, in regions like our country with high rates of consanguineous marriage, IEM should be considered in patients presenting with seizures that do not respond to conventional antiepileptic treatments.


Asunto(s)
Epilepsia , Enfermedades Metabólicas , Errores Innatos del Metabolismo , Niño , Humanos , Preescolar , Femenino , Lactante , Masculino , Estudios Retrospectivos , Epilepsia/epidemiología , Epilepsia/etiología , Epilepsia/diagnóstico , Electroencefalografía , Errores Innatos del Metabolismo/complicaciones , Errores Innatos del Metabolismo/diagnóstico , Errores Innatos del Metabolismo/epidemiología
7.
J Clin Med ; 11(12)2022 Jun 13.
Artículo en Inglés | MEDLINE | ID: mdl-35743454

RESUMEN

Mobile brain perfusion ultrasound (BPU) is a novel non-imaging technique creating only hemispheric perfusion curves following ultrasound contrast injection and has been specifically designed for early prehospital large vessel occlusion (LVO) stroke identification. We report on the first patient investigated with the SONAS® system, a portable point-of-care ultrasound system for BPU. This patient was admitted into our stroke unit about 12 h following onset of a fluctuating motor aphasia, dysarthria and facial weakness resulting in an NIHSS of 3 to 8. Occlusion of the left middle cerebral artery occlusion was diagnosed by computed tomography angiography. BPU was performed in conjunction with injection of echo-contrast agent to generate hemispheric perfusion curves and in parallel, conventional color-coded sonography (TCCS) assessing MCAO. Both assessments confirmed the results of angiography. Emergency mechanical thrombectomy (MT) achieved complete recanalization (TICI 3) and post-interventional NIHSS of 2 the next day. Telephone follow-up after 2 years found the patient fully active in professional life. Point-of-care BPU is a non-invasive technique especially suitable for prehospital stroke diagnosis for LVO. BPU in conjunction with prehospital stroke scales may enable goal-directed stroke patient placement, i.e., directly to comprehensive stroke centers aiming for MT. Further results of the ongoing phase II study are needed to confirm this finding.

8.
Brain Circ ; 8(1): 50-56, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35372722

RESUMEN

Detecting the stroke etiology in young patients can be challenging. Among others, determining causality between ischemic stroke and patent foramen ovale (PFO) remains a complicated task for stroke neurologists, given the relatively high prevalence of PFOs. Thorough diagnostic workup to identify incidental vascular risk factors and rare embolic sources is crucial to avoid premature PFO closure suggesting successful secondary stroke prevention. In this paper, we report on a 38-year-old patient with recurrent vertebrobasilar territory, especially right posterior inferior cerebellar artery (PICA) territory strokes. After the initial suspicion of a left vertebral artery (VA) dissection was not confirmed by ultrasound and magnetic resonance imaging (MRI) and other major risk factors were excluded, a PFO was detected and closed. Successful PFO closure was confirmed by transesophageal echocardiography, yet recurrent transient-ischemic attacks and vertebrobasilar strokes, especially during nighttime and in the early morning, occurred despite various antiplatelet and antithrombotic regimes and a persistent right-to-left shunt was detected by bubble transcranial Doppler. Finally, MRI after another vertebrobasilar infarction detected a transient left VA occlusion that finally led to the diagnosis of a left VA pseudoaneurysm from an incident emboligenic dissection in the atlas segment. This pseudoaneurysm together with an anatomical variant of the right PICA originating with the right anterior inferior cerebellar artery from the basilar artery finally explained the recurrent ischemic events of the patient. After successful treatment with coil occlusion, the patient suffered no further stroke and recovered completely. In summary, stroke in the young remains a diagnostic challenge. The incidental finding of a PFO should not deter from thorough stroke workup and the follow-up of these patients including PFO closure verification should be performed under the guidance of vascular neurologists.

9.
Neurol Res Pract ; 4(1): 13, 2022 Apr 11.
Artículo en Inglés | MEDLINE | ID: mdl-35399083

RESUMEN

BACKGROUND: Early prehospital stroke identification is crucial for goal directed hospital admission especially in rural areas. However, clinical prehospital stroke scales are designed to identify any stroke but cannot sufficiently differentiate hemorrhagic from ischemic stroke, including large vessel occlusion (LVO) amenable to mechanical thrombectomy. We report on a novel small, portable and battery driven point-of-care ultrasound system (SONAS®) specifically developed for mobile non-invasive brain perfusion ultrasound (BPU) measurement after bolus injection of an echo-enhancing agent suitable for the use in prehospital stroke diagnosis filling a current, unmet and critical need for LVO identification. METHODS: In a phase I study of healthy volunteers we performed comparative perfusion-weighted magnetic resonance imaging (PWI) and BPU measurements, including safety analysis. RESULTS: Twelve volunteers (n = 7 females, n = 5 males, age ranging between 19 and 55 years) tolerated the measurement extremely well including analysis of blood-brain barrier integrity, and the correlation coefficient between the generated time kinetic curves after contrast agent bolus between PWI and BPU transducers ranged between 0.89 and 0.76. CONCLUSIONS: Mobile BPU using the SONAS® device is feasible and safe with results comparable to PWI. When applied in conjunction with prehospital stroke scales this may lead to a more accurate stroke diagnosis and patients bypassing regular stroke units to comprehensive stroke centers. Further studies are needed in acute stroke patients and in the prehospital phase including assessment of immediate and long-term morbidity and mortality in stroke. TRIAL REGISTRATION: Clinical trials.gov, registered 28.Sep.2017, Identifier: NCT03296852.

10.
Turk J Pharm Sci ; 19(1): 54-62, 2022 02 28.
Artículo en Inglés | MEDLINE | ID: mdl-35227050

RESUMEN

Objectives: Appropriateness of the geriatric outpatients' medications needs special attention due to risks of falls, fractures, depression, hospital admissions and mortality. This study aimed to identify current practice on medication usage by using the 2nd version of "Screening Tool of Older People's Potentially Inappropriate Prescriptions" and "Screening Tool to Alert Doctors to Right Treatment" criteria and affecting factors for the Turkish population. Materials and Methods: This cross-sectional study was conducted between September 2015 and May 2016 at a university research and training hospital's geriatric outpatient clinic. Patients aged ≥65 years and had ≥5 different prescribed medications (considered as polypharmacy) were recruited. The main outcome measure was the frequency of inappropriate medications identified by clinical pharmacist in the outpatient clinic according to the 2nd version of the criterion sets. Results: A total of 700 patients (440 female) were included in this study. According to the results, 316 patients (45.1%) with at least one potentially inappropriate medication and 668 patients (98.3%) with at least one potential prescription omission were detected. Potentially inappropriate medications were associated with the number of medications used per patient [odds ratio (OR): 1.20 p<0.001], living alone (OR: 4.12 p=0.02), and having congestive heart failure (OR: 2.41 p<0.001). Twenty-two (27.5%) out of 80 criteria and 4 (11.8%) out of 34 criteria did not apply to the study population. Conclusion: Detecting inappropriate medications to maintain treatment effectiveness is necessary to provide the optimum therapy. Despite the awareness of polypharmacy in outpatient clinics it is still one of the important causes of inappropriate prescription followed by vaccination rate. Therefore, with the contribution of clinical pharmacist using these available criteria is important, moreover modification of these criteria according to the local needs to be considered to achieve better outcomes.

11.
J Telemed Telecare ; 28(7): 481-487, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32811274

RESUMEN

BACKGROUND: During the COVID-19 pandemic emergency departments have noted a significant decrease in stroke patients. We performed a timely analysis of the Bavarian telestroke TEMPiS "working diagnosis" database. METHODS: Twelve hospitals from the TEMPiS network were selected. Data collected for January through April in years 2017 through 2020 were extracted and analyzed for presumed and definite ischemic stroke (IS), amongst other disorders. In addition, recommendations for intravenous thrombolysis (rtPA) and endovascular thrombectomy (EVT) were noted and mobility data of the region analyzed. If statistically valid, group-comparison was tested with Fisher's exact test considering unpaired observations and ap-value < 0.05 was considered significant. RESULTS: Upon lockdown in mid-March 2020, we observed a significant reduction in recommendations for rtPA compared to the preceding three years (14.7% [2017-2019] vs. 9.2% [2020], p = 0.0232). Recommendations for EVT were significantly higher in January to mid-March 2020 compared to 2017-2019 (5.4% [2017-2019] vs. 9.3% [2020], p = 0.0013) reflecting its increasing importance. Following the COVID-19 lockdown mid-March 2020 the number of EVT decreased back to levels in 2017-2019 (7.4% [2017-2019] vs. 7.6% [2020], p = 0.1719). Absolute numbers of IS decreased in parallel to mobility data. CONCLUSIONS: The reduced stroke incidence during the COVID-19 pandemic may in part be explained by patient avoidance to seek emergency stroke care and may have an association to population mobility. Increasing mobility may induce a rebound effect and may conflict with a potential second COVID-19 wave. Telemedical networks may be ideal databases to study such effects in near-real time.


Asunto(s)
COVID-19 , Accidente Cerebrovascular , COVID-19/epidemiología , Control de Enfermedades Transmisibles , Humanos , Incidencia , Pandemias , Accidente Cerebrovascular/tratamiento farmacológico , Accidente Cerebrovascular/terapia , Trombectomía , Terapia Trombolítica , Activador de Tejido Plasminógeno/uso terapéutico , Resultado del Tratamiento
12.
Sci Rep ; 11(1): 20175, 2021 10 11.
Artículo en Inglés | MEDLINE | ID: mdl-34635748

RESUMEN

In this study, we planned to investigate the clinical course of patients with breast cancer with oligometastatic bone disease (OMBD). The patients were grouped according to the characteristics and the sites of metastases. Group I included 928 patients without metastasis. Group II, the OMBD group, included 68 patients. Group III, the widespread metastasis group, comprised 185 patients with multiple bone metastases and/or solid organ metastases. The mean overall survival of the groups was 16.7 ± 0.3 years in group 1, and 7.8 ± 0.8 and 5.9 ± 0.4 years in groups 2 and 3, respectively (p < 0.001 for the comparison of all three groups together; p < 0.001 for group 1 vs. 2 and 3) and (p = 0.037 for group 2 vs. group 3). In the subgroup survival analysis of patients in group 2 (OMBD), the mean and median survival was 5.5 ± 0.8 and 4.0 ± 0.8 years vs. 9.2 ± 0.98 and 9.0 ± 1.05 years in patients with more than one bone metastasis and single bone metastasis, respectively (p = 0.019). OMBD seems to be a different disease than breast cancer with isolated bone metastases. The high risk of developing OMBD, especially following locoregional recurrence, increases the importance of locoregional therapy in large T and N stage tumors.


Asunto(s)
Neoplasias Óseas/mortalidad , Neoplasias de la Mama/mortalidad , Recurrencia Local de Neoplasia/mortalidad , Adulto , Anciano , Anciano de 80 o más Años , Neoplasias Óseas/secundario , Neoplasias Óseas/terapia , Neoplasias de la Mama/patología , Neoplasias de la Mama/terapia , Terapia Combinada , Femenino , Estudios de Seguimiento , Humanos , Persona de Mediana Edad , Metástasis de la Neoplasia , Recurrencia Local de Neoplasia/patología , Recurrencia Local de Neoplasia/terapia , Pronóstico , Estudios Retrospectivos , Tasa de Supervivencia , Adulto Joven
13.
Neurol Res Pract ; 3(1): 51, 2021 Sep 27.
Artículo en Inglés | MEDLINE | ID: mdl-34565480

RESUMEN

BACKGROUND: The modified Boston criteria (mBC) define the probability for the diagnosis of cerebral amyloid angiopathy (CAA). Its initial clinical presentation differs from asymptomatic cerebral microbleedings (cMBs), acute ischemic stroke (AIS), cortical hemosiderosis (cSS), to lobar ICH (lICH). METHODS: Retrospective analyses and clinical follow-ups of individuals with at least mBC "possible" CAA from 2005 to 2018. RESULTS: 149 patients were classified in subgroups due to the index event: lICH (n = 91), AIS (n = 32), > 3 cMBs only (n = 16) and cSS (n = 10). Patients in the lICH subgroup had a significantly higher percentage of single new lICHs compared to other groups, whereas patients in the AIS-group had a significantly higher percentage of multiple new AIS. cMBs as index event predisposed for AIS during follow up (p < 0.0016). Patients of the cMBs- or cSS-group showed significantly more TFNEs (transient focal-neurological episodes) and lower numbers of asymptomatic patients (for epilepsy and TFNEs) at the index event than patients with lICH or AIS (p < 0.0013). At long-term follow-up, the cMBs- and cSS-group were characterized by more TFNEs and fewer asymptomatic patients. CONCLUSIONS: A new classification system of CAA should add subgroups according to the initial clinical presentation to the mBCs allowing individual prognosis, acute treatment and secondary prophylaxis.

14.
Sisli Etfal Hastan Tip Bul ; 55(2): 203-209, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34349597

RESUMEN

OBJECTIVES: Intradiscal ozone treatment is a minimally-invasive method that can be applied to patients who have low back pain and do not respond to conservative treatment. This retrospectively designed study aimed to evaluate its clinical efficacy, adverse effects, or complication rates. METHODS: Patients with lumbar degenerative disc disease (LDDD) who underwent intradiscal O2-O3 treatment between January 2016 and April 2018 were included in the study. Pain and disability levels were assessed at pre-injection, 1-month and 1-year post-injection periods using visual analog scale (VAS) and Oswestry Disability Index (ODI), respectively. RESULTS: A total of 520 patients (270 males and 250 females) with the mean age of 38.9±5.7 years included in the study. First-month and 1st-year post-injection VAS and ODI scores were significantly lower than pre-injection scores (p<0.001). Remarkable VAS score reduction (more than 50%) was found in 60.2% of patients at 1st month and in 52.9% of patients at the 1st year. No important side effects recorded. CONCLUSION: Intradiscal ozone therapy applied together with the epidural steroid treatment, one of the percutaneous application techniques for the treatment of low back pain related to LDDD, has successful outcomes, clinical efficacy, and low rate of side effects, and thus, is one of the methods that should be considered before surgery when appropriate patients.

15.
Front Neurol ; 12: 676931, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34354659

RESUMEN

Goal: Cerebral amyloid angiopathy (CAA) is a frequent cause of atypical intracerebral hemorrhage (ICH) in the elderly. Stroke risk factors such as arterial hypertension (AHT), atrial fibrillation (AFib), diabetes mellitus (DM), and renal dysfunction (RD) are increasingly apparent in these patients. In this retrospective study, we analyzed the presence of these stroke risk factors in different initial CAA presentations comprising cerebral microbleeds (CMB), acute ischemic stroke (AIS), cortical superficial hemosiderosis (cSS), or lobar ICH (LICH) and evaluated their influence on the initial clinical presentation of patients with CAA. Material and Methods: We identified patients with at least possible CAA defined by the modified Boston criteria admitted to the Department of Neurology or Neurosurgery from 2002 to 2018. Findings: In the overall cohort of 209 patients, we analyzed the correlation between the number of stroke risk factors and the initial clinical presentation of patients with CAA and could show the high multimorbidity of the collective. There are large differences between the subgroups with different initial clinical presentations, e.g., patients with CMB as initial CAA presentation have the highest number of cerebrovascular risk factors and recurrent AIS, whereas AFib is more frequent in the Neurosurgery Department. Conclusion: There is a distinct overlap between the subgroups of CAA manifestations and stroke risk factors that need to be verified in larger patient collectives. Since these comorbidities are likely to influence the clinical course of CAA, they represent possible targets for secondary prevention until specific treatment for CAA becomes available.

16.
J Pediatr Endocrinol Metab ; 34(9): 1207-1209, 2021 Sep 27.
Artículo en Inglés | MEDLINE | ID: mdl-34162022

RESUMEN

OBJECTIVES: Congenital disorders of glycosylation (CDGs) are a group of genetic disorders due to hypoglycosylation of proteins and lipids. A type I pattern is associated with defects in glycan assembly and transfer (CDG-I; cytosol; and endoplasmic reticulum defects), a type II pattern is seen in processing defects of the Golgi apparatus. MAN1B1-CDG is an autosomal recessive CDG-II due to mutations in the α 1,2-mannosidase gene (MAN1B1), mainly characterized by psychomotor disability, facial dysmorphism, truncal obesity, and hypotonia. CASE PRESENTATION: Three patients (two males and one female), with MAN1B1-CDG who had elevated transaminase levels are presented. All patients had presented due to dysmorphic and neurological findings and hypertransaminasemia was remarkable. A type 2 pattern was found on serum transferrin isoelectrofocusing analysis of the presented cases. MAN1B1-CDG was confirmed by genetic analysis. CONCLUSIONS: Although the cause of the increased serum transaminase levels in the present patients is not clear, no evidence for an infection or underlying liver pathology could be identified. In order to know if this is a consistent feature, we suggest measuring serum transaminase levels regularly in MAN1B1-CDG patients.


Asunto(s)
Trastornos Congénitos de Glicosilación/genética , Trastornos Congénitos de Glicosilación/patología , Manosidasas/genética , Mutación , Niño , Preescolar , Femenino , Glicosilación , Humanos , Recién Nacido , Masculino , Pronóstico , Transaminasas/sangre
17.
J Pediatr Endocrinol Metab ; 34(9): 1169-1179, 2021 Sep 27.
Artículo en Inglés | MEDLINE | ID: mdl-34162029

RESUMEN

OBJECTIVES: X-linked adrenoleukodystrophy (X-ALD), is a peroxisomal inborn error of metabolism caused due to the loss of function variants of ABCD1 gene that leads to accumulation of very long chain fatty acids (VLCFAs) in several tissues including the neurological system. Childhood cerebral X-ALD (CCALD) is the most common and severe form of X-ALD, if left untreated. Allogenic hematopoietic stem cell transplantation (HSCT) is the only available therapy that halts neurological deterioration in CCALD. We present 12 patients with several subtypes of X-ALD that were followed-up in a single center. METHODS: Data of 12 patients diagnosed with X-ALD were documented retrospectively. Demographics, age of onset, initial symptoms, endocrine and neurological findings, VLCFA levels, neuroimaging data, molecular genetic analysis of ABCD1 gene, and disease progress were documented. RESULTS: Mean age of initiation of symptoms was 7.9 years and mean age of diagnosis was 10.45 years. Eight patients had the CCALD subtype, while two had the cerebral form of AMN, one had the adult form of cerebral ALD, and one patient had the Addison only phenotype. The most common initial symptoms involved the neurological system. Loes scores varied between 0 and 12. Seven patients with CCALD underwent HSCT, among them three patients died. The overall mortality rate was 25%. CONCLUSIONS: Patients with X-ALD should be carefully followed up for cerebral findings and progression, since there is no genotype-phenotype correlation, and the clinical course cannot be predicted by family history. HSCT is the only available treatment option for patients with neurological deterioration.


Asunto(s)
Adrenoleucodistrofia/patología , Corteza Cerebral/patología , Índice de Severidad de la Enfermedad , Adolescente , Adrenoleucodistrofia/terapia , Adulto , Niño , Preescolar , Familia , Femenino , Estudios de Seguimiento , Trasplante de Células Madre Hematopoyéticas/métodos , Humanos , Masculino , Pronóstico , Estudios Retrospectivos , Adulto Joven
18.
J Pediatr Endocrinol Metab ; 34(9): 1115-1121, 2021 Sep 27.
Artículo en Inglés | MEDLINE | ID: mdl-34162036

RESUMEN

OBJECTIVES: Acromesomelic dysplasia, type Maroteaux, is an autosomal recessive skeletal dysplasia caused by biallelic loss of function variations of NPR2, which encodes a cartilage regulator C-type natriuretic peptide receptor B. NPR2 variations impair skeletal growth. It is a rare type of dwarfism characterized by shortening of the middle and distal segments of the limbs with spondylar dysplasia. METHODS: We performed detailed clinical and radiological evaluation and sequence analysis for NPR2. RESULTS: Herein, we report nine patients from eight families with two novel NPR2 pathogenic variants. CONCLUSIONS: This study describes typical clinical phenotypes of Maroteaux type acromesomelic dysplasia, and enriches the variant spectrum of NPR2 by reporting one nonsense and one missense novel variant. We emphasize the importance of detailed clinical evaluation before genetic testing in diagnosing rare skeletal disorders.


Asunto(s)
Enfermedades del Desarrollo Óseo/genética , Enfermedades del Desarrollo Óseo/patología , Mutación , Fenotipo , Receptores del Factor Natriurético Atrial/genética , Adolescente , Niño , Preescolar , Femenino , Estudios de Seguimiento , Pruebas Genéticas , Heterocigoto , Homocigoto , Humanos , Lactante , Masculino , Linaje , Pronóstico
19.
J Coll Physicians Surg Pak ; 30(6): 663-667, 2021 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-34102777

RESUMEN

OBJECTIVE: To determine the relationship of oxidative stress status with follow-up parameters, metabolic control status, and treatment compliance evaluation in patients diagnosed within toxication type inherited metabolic disease (IMDs). STUDY DESIGN: Descriptive, analytical study. PLACE AND DURATION OF STUDY: Dr. Sami Ulus, Maternity and Child Health, Training and Research Hospital, Ankara, Turkey, between September 2019 and March 2020. METHODOLOGY: Sixty-seven patients, who were followed up with a diagnosis of IMDs in the pediatric metabolism outpatient clinic, and 41 healthy volunteers who applied to the social pediatrics outpatient clinic, were evaluated. ​Disulfide/native thiol, disulfide/total thiol, and native thiol/total thiol ratios of the patient and control group were calculated. P <0.05 (*) value was considered significant in statistical analysis. RESULTS: The mean native thiol / total thiol ratio of the patient group was significantly lower when compared to the control group (92.0±3.3 vs 94.1±2.7, p=0.001). The median disulfide level [19.8 (11.6-25) vs 14(10.1-18.8), p=0.004], the mean disulfide / native thiol (4.5±2.0 vs 3.2±1.6, p<0.001) and the mean disulfide / total thiol ratios (4.0±1.7 vs 2.9±1.4, p=0.001) were higher in the patient group compared to the control group.The findings showed that oxidative stress status was increased during metabolic attacks. Poor metabolic control and non-compliance to treatment was found to be associated with increased oxidative stress. Oxidative stress parameters were found to be correlated with metabolic chemicals such as ammonia, leucine, and citrulline. There was no correlation between phenylalanine and lactate levels and oxidative stress parameters. CONCLUSION:  Metabolic control status and compliance with treatment are related to oxidative stress level, showing thiol/disulfide balance in urea cycle defects, phenylketonuria, and galactosemia patients. Key Words: Thiol / disulfide, Metabolic diseases, MSUD, Galactosemia, Hyperammonemia.


Asunto(s)
Disulfuros , Errores Innatos del Metabolismo , Niño , Femenino , Homeostasis , Humanos , Estrés Oxidativo , Embarazo , Compuestos de Sulfhidrilo , Turquía
20.
Turk J Med Sci ; 51(5): 2334-2340, 2021 10 21.
Artículo en Inglés | MEDLINE | ID: mdl-33932967

RESUMEN

Background/aim: Physical frailty is thought to be related with a decline in cognitive function, mood, and social activities, especially in patients with depression and dementia. It is not clear whether or not physical frailty is associated with an impairment in cognitive function and mood in patients without dementia and depression. In this study, we evaluated the association of physical frailty with cognitive function and mood in geriatric patients without dementia and depression. Material and methods: In this study, 612 patients aged 65 years and over were evaluated. Physical frailty was assessed by using Fried criteria. Furthermore, comprehensive geriatric assessment was performed to each patient. Results: Median age of the patients was 72 years (min-max: 65­93), 58% were female, and 6.5% were frail. Clock drawing (p < 0.001), MMSE (p < 0.001), and Yesevage geriatric depression scale (p: 0.010) test results were worse in frail patients compared to pre-frail and robust ones. Age (p: 0.009), being university graduate (p: 0.031), three words recall test (p: 0.014), activities of daily living (ADL) (p: 0.006), instrumental activities of daily living (IADL) (p < 0.001), and MNA-SF (p: 0.001) scores were determined to be independent related factors of frailty. Conclusion: We have demonstrated that cognitive function and mood might be associated with physical frailty in patients without dementia and depression.


Asunto(s)
Afecto , Cognición/fisiología , Depresión , Fragilidad , Evaluación Geriátrica/métodos , Actividades Cotidianas , Anciano , Anciano de 80 o más Años , Estudios Transversales , Depresión/epidemiología , Femenino , Fragilidad/epidemiología , Fragilidad/psicología , Humanos , Vida Independiente , Masculino
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