scholarly journals KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP

Brain ◽  
2019 ◽  
Vol 142 (10) ◽  
pp. 2996-3008 ◽  
Author(s):  
Mathieu Kuchenbuch ◽  
Giulia Barcia ◽  
Nicole Chemaly ◽  
Emilie Carme ◽  
Agathe Roubertie ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
High Mortality ◽  
Poor Prognosis ◽  
Early Mortality ◽  
Temporal Sequence ◽  
Clinical Spectrum ◽  
Neurological Manifestations ◽  
Focal Seizures ◽  
Poor Outcome ◽  
High Prevalence

Data on KCNT1 epilepsy of infancy with migrating focal seizures are heterogeneous and incomplete. Kuchenbuch et al. refine the syndrome phenotype, showing a three-step temporal sequence, poor prognosis with acquired microcephaly, high prevalence of extra-neurological manifestations and early mortality, particularly due to SUDEP. Refining the electro-clinical spectrum should facilitate early diagnosis.

scholarly journals Prevalence and structure of foot deformities in primary school children

2020 ◽  
Vol 36 (6) ◽  
pp. 33-40
Author(s):  
N. I. Averyanova ◽  
V. V. Pristupova ◽  
A. I. Semerikova ◽  
I. L. Starkova
Keyword(s):  
Early Diagnosis ◽  
Primary School ◽  
School Children ◽  
Primary School Children ◽  
Foot Deformities ◽  
Main Method ◽  
High Prevalence

Aim. To study the prevalence and structure of deformity of the foot in primary school children (pupils of the 1st- 4th grades). Materials and methods. The study involved 277 children aged 7-10 years. The main method of investigation used was computed plantography by means of electronic baropodometer PadProfessional. Results. Deformity of the foot was detected in 58% of children 65.3% of boys and 52.3% of girls (p 0.05). The following pathology was revealed: platypodia, increase in the load on the calcaneal part of the foot and malposition of the foot. The most common pathology was platypodia diagnosed in 28.2% of children. Conclusions. High prevalence of foot deformities requires their early diagnosis and correction as well as improvement of parents knowledge regarding this problem.

scholarly journals Association of occlusal wear facets in patients with temporomandibular disorders

2020 ◽  
Vol 16 (12) ◽  
pp. 1060-1068
Author(s):  
Faazila Fathima ◽  
Keyword(s):  
Early Diagnosis ◽  
Temporomandibular Disorders ◽  
Temporomandibular Disorder ◽  
Tooth Wear ◽  
P Value ◽  
Age Group ◽  
Posterior Teeth ◽  
Index Data ◽  
Occlusal Wear ◽  
High Prevalence

Occlusal changes were important factors in temporomandibular disorder (TMD). It is of interest to evaluate the association of occlusal wear facets in TMD patients. We used a dataset of 49 patients with and without TMD for this study. Occlusal wear facets were evaluated using Smith and Knight tooth wear index. Data shows that teeth wear was present more in patients with TMD (55%). The age group 26-40 years showed high prevalence of teeth wear (grade1) in TMD patients (P value = 0.034). TMD was present more in females than males. Female (54%) patients with TMD showed more teeth wear compared to males. Most patients with TMD showed posterior teeth wear (61%) than generalized teeth wear. Thus, association was present between occlusal teeth wear and TMD patients especially in the age group of 26-40 years. Hence, proper evaluation of occlusal factors will aid in early diagnosis of TMDs.

scholarly journals The Mote in thy Brother’s Eyes - Fusarium Solani in Leukemia Host

2021 ◽  
Author(s):  
Rawan AlAgha ◽  
Wee Lee Chan ◽  
Thong Edwin Wei Sheng ◽  
Joanne Lee ◽  
Jen Wei Ying ◽  
...  
Keyword(s):  
Case Report ◽  
Early Diagnosis ◽  
High Mortality ◽  
Combination Chemotherapy ◽  
Fusarium Solani ◽  
Immunocompromised Host ◽  
Skin Lesions ◽  
Acute Onset ◽  
Source Control ◽  
Anti Fungal

Abstract Fusariosis is increasingly seen among immunocompromised host. The organism is known for its virulence and spectrum of infections. Presenting here a case of relapse acute myeloblastic leukemia on chemotherapy with acute onset of red painful eye followed by widespread painful skin lesions. Microbiological and radiological investigations diagnosed her with disseminated fusariosis. Treatment was challenging in view its inherent resistance to multiple anti-fungal agents and the need for early aggressive source control. The case report reflects the importance of early diagnosis and combination chemotherapy to salvage the patient from high mortality.

Newborn Screening for Sickle Cell Disease and Other Hemoglobinopathies

PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 813-814
Author(s):  
DORIS WETHERS ◽  
HOWARD PEARSON ◽  
MARILYN GASTON
Keyword(s):  
Sickle Cell Disease ◽  
Early Diagnosis ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Case Fatality ◽  
The United States ◽  
Early Mortality ◽  
Cell Disease ◽  
Newborn Period ◽  
The Past

Hemoglobinopathies represent one of the major health problems in the United States and constitute the most common genetic disorders in some populations. Sickle cell disease (SS, SC, S-β-thalassemia) alone affects about one in 400 American black newborns, as well as persons of African, Mediterranean, Asian, Caribbean, Middle Eastern, and South and Central American origins. For the past 20 years, the medical profession has known that children with sickle cell anemia have an increased susceptibility to severe bacterial infection, particularly due to Streptococcus pneumoniae. The risk of major infection and death posed by this organism is greatest in the first 3 years of life and can occur as early as 3 months of age. In fact, this infection may be the first clinical manifestation of disease. The infection can be fulminant, progressing from the onset of fever to death in a matter of hours, and the case fatality rate is reported as high as 30%. In addition, acute splenic sequestration, another acute catastrophic event, contributes to early mortality in children with sickle cell anemia and may occur as early as 5 months of age. It has been proposed that early diagnosis to identify infants with major sickle hemoglobinopathies, who have a high risk of early mortality and morbidity, is essential to institute appropriate ongoing care and effective measures of prophylaxis and intervention. Early diagnosis of hemoglobinopathies should be in the newborn period. Even though the technology to screen infants in the newborn period has been available for the past 15 to 20 years, screening has not received widespread acceptance.

Nanotherapeutic macrophage-based immunotherapy for peritoneal carcinomatosis of lung cancer

Nanoscale ◽  
2022 ◽  
Author(s):  
Yonghui Wang ◽  
Binfan Chen ◽  
Zhidi He ◽  
Bin Tu ◽  
Pengfei Zhao ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Peritoneal Carcinomatosis ◽  
High Mortality ◽  
Distant Metastasis ◽  
Cancer Mortality ◽  
Poor Prognosis ◽  
Abdominal Metastasis ◽  
The World

Lung cancer is the top cause of cancer mortality in the world. Distant metastasis leads to high mortality. Abdominal metastasis of lung cancer is characterized by a very poor prognosis...

MDA-5 dermatomyositis complicated by interstitial lung disease and cutaneous ulcers: successful treatment with corticosteroids, mycophenolate mofetil and intravenous immunoglobulin

2020 ◽  
Vol 13 (9) ◽  
pp. e236431
Author(s):  
Kelli Stager ◽  
Leanna Wise
Keyword(s):  
Mycophenolate Mofetil ◽  
Interstitial Lung Disease ◽  
Early Diagnosis ◽  
Lung Disease ◽  
Intravenous Immunoglobulin ◽  
Poor Prognosis ◽  
Aggressive Treatment ◽  
Cutaneous Manifestations ◽  
Severity Of Disease ◽  
Aggressive Management

Antimelanoma differentiation-associated gene 5 (MDA-5) dermatomyositis is a subtype of dermatomyositis that is associated with rapidly progressive interstitial lung disease (RP-ILD), as well as with a variety of cutaneous manifestations. Patients with MDA-5 dermatomyositis tend to have a poor prognosis that is often attributed to the high rates of concurrent RP-ILD. Given the severity of disease, early diagnosis and aggressive management is pivotal. We present a case of a 40-year-old woman diagnosed with MDA-5 dermatomyositis who presented with weakness, painful cutaneous ulcerations and interstitial lung disease. She was treated with monthly intravenous Ig (IVIg), weight-based prednisone and mycophenolate mofetil (MMF). After approximately 2 years of treatment, her interstitial lung disease remains stable and she has had significant improvement in weakness and cutaneous ulcerations. Our case provides evidence for early and aggressive treatment of MDA-5 dermatomyositis with a combination of weight-based prednisone, MMF and IVIg.

High prevalence of cardiac diseases in Poland as a cause of high mortality in stroke

1997 ◽  
Vol 6 (6) ◽  
pp. 455
Author(s):  
A. Czlonkowska ◽  
D. Ryglewicz ◽  
S. Cichy ◽  
T. Mendel ◽  
W. Lechowicz ◽  
...  
Keyword(s):  
High Mortality ◽  
Cardiac Diseases ◽  
High Prevalence

Peptide functionalized upconversion/NIR II luminescent nanoparticles for targeted imaging and therapy of oral squamous cell carcinoma

2021 ◽  
Author(s):  
Bi Lin ◽  
Jun Wu ◽  
Yanxing Wang ◽  
Song Sun ◽  
Ying Yuan ◽  
...  
Keyword(s):  
Squamous Cell Carcinoma ◽  
Oral Squamous Cell Carcinoma ◽  
Early Diagnosis ◽  
Cell Carcinoma ◽  
Squamous Cell ◽  
Poor Prognosis ◽  
Targeted Imaging ◽  
Invasion And Metastasis ◽  
High Incidence ◽  
Luminescent Nanoparticles

Early diagnosis is critical and challenging for tongue squamous cell carcinoma (TSCC), which is a kind of tumor with high malignancy, poor prognosis, and a high incidence of invasion and metastasis.

Sign in / Sign up

Export Citation Format

Share Document