scholarly journals Clinical and genetic profile of Brazilian patients with dysferlinopathies – A retrospective study

2021 ◽  
Author(s):  
Igor Braga Farias ◽  
Bruno de Mattos Lombardi Badia ◽  
Gustavo Carvalho Costa ◽  
Roberta Ismael Lacerda Machado ◽  
Carolina Maria Marin ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Medical Records ◽  
Autosomal Recessive ◽  
Statistical Difference ◽  
Plantar Flexion ◽  
Functional Decline ◽  
Clinical Manifestations ◽  
Genetic Profile ◽  
Inclusion Criteria

Introduction: Dysferlinopathies are a group of conditions that are caused by mutations in the dysferlin gene. Objectives: To characterize the clinical phenotypes and genotypic spectrum of dysferlinopathies patients and to estimate the progression of functional and motor decline. Design and setting: Retrospective analysis of the medical records of patients followed up at our institution between 1995 and 2020. Methods: Patients were selected based on the following inclusion criteria:(i) Identification of a mutation defined as pathogenic in homozygosis or compound heterozygosis in the Dysf gene;or (ii)compatible clinical manifestations and decreased expression of dysferlin in immunohistochemistry on muscle biopsy. Classification of the phenotype was based on the first symptoms. Functionality was defined by the Gardner–Medwin & Walton(GMW) scale modified for dysferlinopathy. Results: 23 patients were included in the study. 16 were classified as limb-girdle muscular dystrophy autosomal recessive 2 (LGMDR2), 4 as Miyoshi muscular dystrophy, 2 as proximo-distal onset and 1 as asymptomatic hyperCKemia. Thighs adduction was the most affected movement in the first evaluation (mean strength=3). Plantar flexion was the movement with the greatest decline in strength(mean=-0.10 points on MRC/year;pT, Arg2042Cys and c.2643+1G>A, p.?(splicing), found 3 times each. There was no statistical difference in muscle strength in the first evaluation, motor and functional decline between the phenotypes. Conclusion: While LGMDR2 was the most common phenotype at onset, with the exception of asymptomatic hyperCKemia, there were not a clear difference in the pattern of progression between them.

scholarly journals Relationship between stroke etiologies and clinical manifestations/Oxfordshire

2021 ◽  
Author(s):  
Silas Paulo Lima de Souza ◽  
Antonio Carlos Dias Andrade ◽  
Vinicius Leal Borges da Cruz ◽  
João Paste ◽  
Tiago Timotio de Almeida ◽  
...  
Keyword(s):  
Medical Records ◽  
Clinical Manifestations ◽  
Cross Sectional Study ◽  
Large Artery ◽  
Anterior Circulation ◽  
Vessel Occlusion ◽  
Cross Sectional ◽  
Reference Hospital ◽  
Toast Classification

Introduction: The classification of strokes subtypes is important, since they have different management and prognoses. This study aims to verify associations between the etiologies of the stroke according to the TOAST classification and the clinical presentation by the subtypes of the Oxfordshire scale. Methods: A descriptive cross-sectional study, with patients admitted to a stroke unit of a reference hospital in Salvador-BA between 11/2017 and 03/2020. We included patients over 18 years of age and didn’t include patients with inaccuracies in the filling of medical records or who didn’t meet the criteria for admission to the cohort. Results: 300 patients between 25 and 98 years old (mean: 64 years; SD: 13.34) were analyzed. Regarding cardioembolic etiology (CE), 34 patients (45.3%) had lacunar syndromes (LACS) and 25 (33.3%) Partial Anterior Circulation Syndrome (PACS). Patients with Large Artery Atherosclerosis (LAA) 24 (40.7%) had PACS while 21 (35.6%) of the LACS patients diagnosed with small vessel occlusion (SVO) 22 (62.9%) had LACS. Futhermore, patients with cryptogenic strokes (CS) had predominantly PACS and LACS, 27 (31%) and 40 (46%) respectively. Conclusion: Based on the results of acute strokes of CE, SVO and CS origin are related to LACS. The events originated by LAA are more associated with PACS. Events caused by SVO were related to lacunar syndromes, corroborating with findings in the literature.

scholarly journals Association between Fever during Admission and Outcome of Treatment in Tuberculous Meningitis Patients in Hasan Sadikin General Hospital Bandung

2019 ◽  
Vol 2 (3) ◽  
Author(s):  
Regita A Kuswanto ◽  
Ahmad Rizal ◽  
R Raspati C Koesoemadinata
Keyword(s):  
Tuberculous Meningitis ◽  
Medical Records ◽  
Retrospective Cohort ◽  
Inflammatory Process ◽  
Common Type ◽  
Limited Data ◽  
Inclusion Criteria ◽  
Exclusion Criteria ◽  
Factors Associated

Tuberculous meningitis (TBM) is the most common type of meningitis with a highmortality rate (20-41%). There are limited data on factors associated with outcome oftreatment, especially in Indonesia. Fever is a common inflammatory process in meningitispatients. This study aims to investigate the association between fever during admission andoutcome of treatment in TBM patients treated in the In-patient Neurology Department at HasanSadikin Hospital Bandung. This is an observational retrospective cohort study conducted byusing medical records from 2017. The inclusion criteria of this study were all medical recordsof inpatients who were diagnosed as TBM and ?18 years old, while the exclusion criteria wereincomplete medical records. The variables in this study were age, gender, body temperature,classification of TBM, and Glasglow Outcome Scale (GOS). There were 125 medical recordswhich fulfilled the inclusion criteria. Kruskal- Wallis test showed that fever was notsignificantly associated with GOS (p=0.193). In conclusion, fever during admission was notassociated with GOS in TBM patients.Keywords: tuberculous meningitis, fever, Glasglow Outcome Scale, outcome

LIMB-GIRDLE MUSCULAR DYSTROPHY: CLINICAL MANIFESTATIONS AND DETECTION OF PRECLINICAL DISEASE

PEDIATRICS ◽  
1968 ◽  
Vol 41 (2) ◽  
pp. 495-502
Author(s):  
Charles E. Jackson ◽  
Don A. Strehler
Keyword(s):  
Muscular Dystrophy ◽  
Autosomal Recessive ◽  
Age Of Onset ◽  
Clinical Manifestations ◽  
Serum Enzymes ◽  
Limb Girdle Muscular Dystrophy ◽  
Recessive Type ◽  
The Face ◽  
Mode Of Inheritance

The clinical picture of limb-girdle muscular dystrophy is described as seen in 37 affected individuals from two large Amish kindreds. The disease is characterized by an autosomal recessive mode of inheritance with as many females as males being affected, and with affected individuals being the product generally of consanguineous matings. The age of onset was observed to be between 4 and 15 years of age (average 8½) with a quite variable age of confinement to a wheelchair (12 to 44 years ). The disease was compatible with a life span in one patient to 67 years of age. The involvement of proximal shoulder and pelvic girdle muscles was similar to that in the X-linked recessive, Duchenne type of muscular dystrophy; however, the zygomaticus muscles of the face are preserved and a normal upturned smile is noted in this type of muscular dystrophy rather than the flat transverse smile noted in the X-linked recessive type. Muscle biopsy abnormalities in two individuals very early in the course of their disease suggest that biopsy would probably be useful in detection of preclinical disease in this type of muscular dystrophy. Gross abnomalities of serum enzymes in 12 younger siblings of affected individuals in these two families suggest that these enzyme determinations are useful in detecting preclinical, limb-girdle muscular dystrophy. When therapy for muscular dystrophy becomes available, the determination of preclinical disease by these techniques will become of greater clinical significance.

scholarly journals Analysis of Patients Undergoing Prostate Biopsy Procedure In Outpatient Care

2021 ◽  
Author(s):  
Patrícia Mitsue Saruhashi Shimabukuro ◽  
Carla Morales Guerra ◽  
RICHARLISSON BORGES DE MORAIS ◽  
Monica Taminato
Keyword(s):  
Emergency Care ◽  
Prostate Biopsy ◽  
Medical Records ◽  
Signs And Symptoms ◽  
Hospital Environment ◽  
Inclusion Criteria ◽  
Salmonella Spp ◽  
E Coli ◽  
Total Sensitivity

Abstract Currently in the concept of de-hospitalization and consequently an increase in invasive procedures performed in the extra-hospital environment. This work aims to identify the signs and symptoms of an adverse event related to prostate biopsy. This is a cohort and retrospective research through the registration of patient care in electronic medical records after the exam. In the period from 2016 to 2018, 3,570 exams were performed, with 491 patients presenting the criteria for the classification of infection related to the procedure that strictly obeys the criteria established by the Centers Diseases Control (CDC). The inclusion criteria for patients were those who, within 15 days after performing the prostate biopsy, had emergency care due to the presence of signs and symptoms. The exams analyzed were urine culture and blood culture collected at the time of emergency care. The results were that of the 491 patients evaluated, 38 (9%) patients required hospitalization, the average age of the hospitalized patients was 71.5 years and all had at least one associated comorbidity on positive cultures, 13 for E. coli with total sensitivity to aminoglycosides and carbapenems and partial sensitivity to fluoroquinolones, 1 Protein spp sensitive to aminoglycosides and carbapenems and 1 Salmonella spp sensitive to fluoroquinolones and carbapenems. Thus, it is noted the importance of the infection control nurse's activity in the diagnostic medicine units for the elaboration of protocols adapted to the outpatient reality.

scholarly journals P104: Can patients suffering traumatic cardiac arrest be identified using the National Ambulatory Care Reporting System (NACRS) database?

CJEM ◽  
2019 ◽  
Vol 21 (S1) ◽  
pp. S101 ◽  
Author(s):  
N. Radulovic ◽  
A. Kim ◽  
C. Evans
Keyword(s):  
Cardiac Arrest ◽  
Ambulatory Care ◽  
Medical Records ◽  
Reporting System ◽  
Emergency Department Visits ◽  
Diagnostic Code ◽  
Inclusion Criteria ◽  
Traumatic Cardiac Arrest ◽  
Icd 10

Introduction: Trauma is a common cause of mortality across all age groups and is projected to become the third greatest contributor to global disease burden. Recent studies have demonstrated that survival from traumatic cardiac arrest (TCA) is more favourable than once believed and further research on this population is being encouraged. Currently, it is unclear whether existing databases, such as the National Ambulatory Care Reporting system (NACRS), which includes all emergency department visits, could be used to identify TCAs for population-based studies. We aimed to determine the accuracy of NACRS administrative codes in identifying TCA patients. Methods: This retrospective validation study used data acquired from NACRS and our institutional Patient Care System. We identified a number of International Classification of Diseases, tenth revision (ICD-10) diagnostic, procedural and cause of injury codes that we hypothesized would be consistent with TCA. NACRS was subsequently searched for patients meeting the diagnostic code criteria (January 1 - December 31, 2015). The following inclusion criteria were: an eligible ICD-10 diagnostic code or a qualifying Canadian Classification of Health Interventions (CCI) procedure code and an eligible ICD-10 external cause of injury code. Electronic medical records for these patients were then reviewed to determine whether true TCAs had occurred. Results: Eighty-five patients met the inclusion criteria and one was excluded from analysis due to inaccessible health records, leaving 84 patients eligible for chart review. Overall, 55% (n = 46) of patients were found to have true TCA, 35% (n = 29) sustained a cardiac arrest of non-traumatic etiology and 11% (n = 9) were considered “unclear” (i.e. could not determine whether it was a true TCA based on the medical records). We found that true TCA patients were most accurately identified using a combination of ICD-10 CA cardiac arrest and external cause of injury codes (Positive predictive value: 70.6%, 95% CI 46.9-86.7). Conclusion: TCA patients were identified with moderate accuracy using the NACRS database. Further efforts to integrate specific data fields for TCA cases within existing population databases and trauma registries is necessary to facilitate future studies focused on this patient population.

Use of photodynamic therapy for photodamage skin (review of literature)

2019 ◽  
Vol 1 (7) ◽  
pp. 19-23
Author(s):  
S. I. Surkichin ◽  
N. V. Gryazeva ◽  
L. S. Kholupova ◽  
N. V. Bochkova
Keyword(s):  
Photodynamic Therapy ◽  
Comparative Evaluation ◽  
Clinical Manifestations ◽  
Light Sources ◽  
Review Of Literature ◽  
Photosensitizing Agents ◽  
Selection Of

The article provides an overview of the use of photodynamic therapy for photodamage of the skin. The causes, pathogenesis and clinical manifestations of skin photodamage are considered. The definition, principle of action of photodynamic therapy, including the sources of light used, the classification of photosensitizers and their main characteristics are given. Analyzed studies that show the effectiveness and comparative evaluation in the selection of various light sources and photosensitizing agents for photodynamic therapy in patients with clinical manifestations of photodamage.

Cytopathology Lymphadenopathy Feature in HIV Positve Patient: Diagnosis Tools Comorbidities

2016 ◽  
Vol 1 (3) ◽  
Author(s):  
Hasrayati Agustina ◽  
Yenni Wisudarma ◽  
Ris Kristiana ◽  
Bethy S. Hernowo
Keyword(s):  
Lymph Nodes ◽  
Medical Records ◽  
Fine Needle Aspiration Biopsy ◽  
Clinical Manifestations ◽  
Needle Aspiration ◽  
Hiv Positive ◽  
Tuberculous Lymphadenitis ◽  
Patient Diagnosis ◽  
Granulomatous Lymphadenitis ◽  
Anatomical Pathology

Lymphadenopathy is enlarged lymph nodes caused by infection, inflammation or malignancy. On HIV positive patients, lymphadenopathy is one of the most common clinical manifestations and it is usually persistent. Fine-needle aspiration biopsy (FNAB) is an effective cytology technique in determining the diagnosis of lymphadenopathy. This study aimed to describe the cytopathology of lymphadenopathy in HIV positive patients. This is a descriptive study of 21 cases of lymphadenopathy in patients with HIV positive who underwent FNAB examination in Anatomical Pathology Department of Dr.Hasan Sadikin Hospital between 2013-2014. Medical data was taken from the patient medical records including age, sex, location, size and cytopathological diagnosis. Cytopathology overview of FNAB specimens were reassessed by 2 pathologists. In this study, lymphadenopathy in HIV positive patients were mainly found in men (n = 15.71%) with an average age between 20-30 years. The most frequent location was the neck (n = 20.95.2%). The lymph nodes size were found between 0.5-3 cm. Most diagnosis was tuberculous lymphadenitis (n = 15.71%) with the most common cytology feature was granulomatous lymphadenitis (n = 5.33.3%) and suppurative lymphadenitis (n = 5.33.3%). FNAB examination in lymphadenopathy is very helpful to identify the cause of infection in HIV positive patients. Keywords: FNAB, HIV, lymphadenopathy, cytopathology

Papillon-Lefevre Syndrome: Challenge for Periodontal Management

2019 ◽  
Vol 3 (2) ◽  
pp. 84-86
Author(s):  
Krishna Prasad Lamichhane ◽  
Shaili Pradhan ◽  
Ranjita Shreshta Gorkhali ◽  
Pramod Kumar Koirala
Keyword(s):  
Significant Role ◽  
Autosomal Recessive ◽  
Clinical Manifestations ◽  
Autosomal Recessive Disorder ◽  
Genetic Mutations ◽  
Rare Autosomal Recessive Disorder ◽  
Diagnosis And Management ◽  
Periodontal Destruction ◽  
Palmoplantar Keratosis

Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disorder associated with rapidly progressing periodontitis leading to premature loss of deciduous and permanent dentition and diffuse palmoplantar keratosis. Immunologic alterations, genetic mutations, and role of bacteria are some aetiologic factors. Patients present with early periodontal destruction, so periodontists play a significant role in diagnosis and management. This paper reports a case of Papillon- Lefevre syndrome with its clinical manifestations and challenges for periodontal management which was diagnosed in dental department.

scholarly journals The association of triglyceride levels with the incidence of initial and recurrent acute pancreatitis

2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Robert J. Sanchez ◽  
Wenzhen Ge ◽  
Wenhui Wei ◽  
Manish P. Ponda ◽  
Robert S. Rosenson
Keyword(s):  
Acute Pancreatitis ◽  
Medical Records ◽  
Adult Population ◽  
Baseline Period ◽  
Prior History ◽  
Inclusion Criteria ◽  
Exclusion Criteria ◽  
Recurrent Acute Pancreatitis ◽  
History Of ◽  
Nationally Representative

Abstract Background This retrospective cohort study assessed the annualized incidence rate (IR) of acute pancreatitis (AP) in a nationally representative US adult population, as well as the variation in the risk of AP events across strata of triglyceride (TG) levels. Methods Data were obtained from IQVIA’s US Ambulatory Electronic Medical Records (EMR) database linked with its LRxDx Open Claims database. Inclusion criteria included ≥1 serum TG value during the overlapping study period of the EMR and claims databases, ≥1 claim in the 12-month baseline period, and ≥ 1 claim in the 12 months post index. All TG measurements were assigned to the highest category reached: < 2.26, ≥2.26 to ≤5.65, > 5.65 to ≤9.94, > 9.94, and > 11.29 mmol/L (< 200, ≥200 to ≤500, > 500 to ≤880, > 880, and > 1000 mg/dL, respectively). The outcome of interest was AP, defined as a hospitalization event with AP as the principal diagnosis. Results In total, 7,119,195 patients met the inclusion/exclusion criteria, of whom 4158 (0.058%) had ≥1 AP events in the prior 12 months. Most patients (83%) had TGs < 2.26 mmol/L (< 200 mg/dL), while < 1% had TGs > 9.94 mmol/L (> 880 mg/dL). Overall, the IR of AP was low (0.08%; 95% confidence internal [CI], 0.08–0.08%), but increased with increasing TGs (0.08% in TGs < 2.26 mmol/L [< 200 mg/dL] to 1.21% in TGs > 11.29 mmol/L [> 1000 mg/dL]). In patients with a prior history of AP, the IR of AP increased dramatically; patients with ≥2 AP events at baseline had an IR of 29.98% (95% CI, 25.1–34.9%). Conclusion The risk of AP increases with increasing TG strata; however, the risk increases dramatically among patients with a recent history of AP.

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