scholarly journals A case of severe neonatal hyperparathyroidism due to defect in calcium receptors

2010 ◽  
Vol 56 (4) ◽  
pp. 27-33
Author(s):  
A V Vitebskaia ◽  
E E Petriaĭkina ◽  
A Iu Razumovskiĭ ◽  
A A Pavlov ◽  
A N Tiul'pakov
Keyword(s):  
Clinical Symptoms ◽  
Molecular Genetic ◽  
Familial Hypocalciuric Hypercalcemia ◽  
General Health Status ◽  
Casr Gene ◽  
Patient Diagnosis ◽  
First Case ◽  
High Calcium ◽  
Calcium Receptors ◽  
Very High

The first case of severe neonatal hyperparathyroidism in the Russian population verified by molecular-genetic testing is described. The patient presented with very high calcium and parathyroid hormone (PTH) levels and showed characteristic clinical symptoms of hyperparathyroidism in the absence of lesions in long tubular bones. Removal of all parathyroid glands resulted in normalization of laboratory parameters and general health status of the patient. Diagnosis of severe neonatal hyperparathyroidism was confirmed by sequencing the CASR gene while parents of the child were shown to suffer familial hypocalciuric hypercalcemia.

Small-Angle Electron Scattering (SAES) of Polymers

1985 ◽  
Vol 43 ◽  
pp. 78-79
Author(s):  
Ralph Oralor ◽  
Pamela Lloyd ◽  
Satish Kumar ◽  
W. W. Adams
Keyword(s):  
Electron Scattering ◽  
Small Angle ◽  
Angular Resolution ◽  
Structural Features ◽  
Objective Lens ◽  
High Angular Resolution ◽  
Push Button ◽  
First Case ◽  
Diffraction Mode ◽  
Very High

Small angle electron scattering (SAES) has been used to study structural features of up to several thousand angstroms in polymers, as well as in metals. SAES may be done either in (a) long camera mode by switching off the objective lens current or in (b) selected area diffraction mode. In the first case very high camera lengths (up to 7Ø meters on JEOL 1Ø ØCX) and high angular resolution can be obtained, while in the second case smaller camera lengths (approximately up to 3.6 meters on JEOL 1Ø ØCX) and lower angular resolution is obtainable. We conducted our SAES studies on JEOL 1ØØCX which can be switched to either mode with a push button as a standard feature.

TBE in Lithuania

2020 ◽  
Keyword(s):  
Viral Encephalitis ◽  
Clinical Symptoms ◽  
Shoulder Girdle ◽  
Muscle Paralysis ◽  
First Case ◽  
Tick Borne Encephalitis ◽  
Autopsy Data ◽  
Forest Worker ◽  
Girdle Muscle ◽  
Shoulder Girdle Muscle

The first case of tick-borne encephalitis (TBE) in Lithuania, diagnosed by clinical and epidemiologic criteria only, was reported in 1953. A forest worker became ill with the disease in April after a tick bite, had a typical clinical presentation with shoulder girdle muscle paralysis and bulbar syndrome, and died after 12 days from the start of clinical symptoms. Autopsy data were compatible with viral encephalitis.1 Serological diagnosis of TBE in Lithuania was started in 1970.2

Novel Coronavirus Disease (COVID-19): A Narrative Review Based on Current Status

2020 ◽  
Vol 18 ◽  
Author(s):  
Rina Das ◽  
Dinesh Kumar Mehta ◽  
Meenakshi Dhanawat
Keyword(s):  
Severe Acute Respiratory Syndrome ◽  
Clinical Symptoms ◽  
Virus Disease ◽  
Relevant Literature ◽  
World Health ◽  
Current Status ◽  
Future Research ◽  
Treatment And Prevention ◽  
First Case ◽  
Novel Coronavirus

Abstract:: A novel virus, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), appeared and expanded globally by the end of year in 2019 from Wuhan, China, causing severe acute respiratory syndrome. During its initial stage, the disease was called the novel coronavirus (2019-nCoV). It was named COVID-19 by the World Health Organization (WHO) on 11 February 2020. The WHO declared worldwide the SARS-CoV-2 virus a pandemic on March 2020. On 30 January 2020 the first case of Corona Virus Disease 2019 (COVID-19) was reported in India. Now in current situation the virus is floating in almost every part of the province and rest of the globe. -: On the basis of novel published evidences, we efficiently summarized the reported work with reference to COVID-19 epidemiology, pathogen, clinical symptoms, treatment and prevention. Using several worldwide electronic scientific databases such as Pubmed, Medline, Embase, Science direct, Scopus, etc were utilized for extensive investigation of relevant literature. -: This review is written in the hope of encouraging the people successfully with the key learning points from the underway efforts to perceive and manage SARS-CoV-2, suggesting sailent points for expanding future research.

scholarly journals Clinical and genetic spectrum of glycogen storage disease in Iranian population using targeted gene sequencing

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Zahra Beyzaei ◽  
Fatih Ezgu ◽  
Bita Geramizadeh ◽  
Mohammad Hadi Imanieh ◽  
Mahmood Haghighat ◽  
...  
Keyword(s):  
Clinical Symptoms ◽  
Molecular Genetic ◽  
Gene Sequencing ◽  
Glycogen Storage ◽  
Loss Of Function ◽  
Retrospective Case ◽  
Complex Disorders ◽  
Glycogen Storage Diseases ◽  
Targeted Gene Sequencing ◽  
Retrospective Case Study

AbstractGlycogen storage diseases (GSDs) are known as complex disorders with overlapping manifestations. These features also preclude a specific clinical diagnosis, requiring more accurate paraclinical tests. To evaluate the patients with particular diagnosis features characterizing GSD, an observational retrospective case study was designed by performing a targeted gene sequencing (TGS) for accurate subtyping. A total of the 15 pediatric patients were admitted to our hospital and referred for molecular genetic testing using TGS. Eight genes namely SLC37A4, AGL, GBE1, PYGL, PHKB, PGAM2, and PRKAG2 were detected to be responsible for the onset of the clinical symptoms. A total number of 15 variants were identified i.e. mostly loss-of-function (LoF) variants, of which 10 variants were novel. Finally, diagnosis of GSD types Ib, III, IV, VI, IXb, IXc, X, and GSD of the heart, lethal congenital was made in 13 out of the 14 patients. Notably, GSD-IX and GSD of the heart-lethal congenital (i.e. PRKAG2 deficiency) patients have been reported in Iran for the first time which shown the development of liver cirrhosis with novel variants. These results showed that TGS, in combination with clinical, biochemical, and pathological hallmarks, could provide accurate and high-throughput results for diagnosing and sub-typing GSD and related diseases.

Laser-Induced Acoustic Waves for Measurement and Imaging

2000 ◽  
Author(s):  
Wen Li ◽  
Ronald A. Roy ◽  
Robin O. Cleveland ◽  
Lawrence J. Berg ◽  
Charles A. DiMarzio
Keyword(s):  
Acoustic Waves ◽  
Peak Power ◽  
Laser Light ◽  
Short Pulse ◽  
Laser Wavelength ◽  
Acoustic Imaging ◽  
Acoustic Energy ◽  
High Peak Power ◽  
First Case ◽  
Very High

Abstract A short pulse of laser light can act as a source of acoustic energy for acoustic imaging. Although there are a number of mechanisms by which the light pulse may generate sound, all require a pulse of high peak power density and short duration. In this work, we address examples where the material is highly absorbing at the laser wavelength, and the sound is generated near the surface. In these cases, there exist two different mechanisms which can convert the light to sound. The first is heating followed by expansion, and the second is generation of a plasma in the air above the surface. In the first case, sound generation occurs in the medium of interest and the energy efficiency can be very high, in the sense that no reflection losses occur. We present two applications from our own research.

Propranolol in Children: Safety-Toxicity

PEDIATRICS ◽  
1982 ◽  
Vol 70 (1) ◽  
pp. 30-31
Author(s):  
Michael Artman ◽  
Mitch Grayson ◽  
Robert C. Boerth
Keyword(s):  
Heart Rate Response ◽  
Plasma Concentrations ◽  
Caloric Intake ◽  
High Plasma ◽  
Intravenous Glucose ◽  
First Case ◽  
Acute Ingestion ◽  
Pharmacologic Effect ◽  
Propranolol Therapy ◽  
Very High

Four hours after acute ingestion of 400 to 1,200 mg of propranolol by a healthy, 3-year-old boy, his plasma concentration of propranolol was 2,289 ng/ml. The only pharmacologic effect observed was a diminished heart rate response to crying and activity. In a second case, a 4-year-old boy on chronic propranolol therapy for renovascular hypertension had a hypoglycemic seizure when solid food was refused for three days because of an oral wound. The hypoglycemia was easily managed with intravenous glucose, and there were no sequelae. The first case alludes to the safety of propranolol in a healthy child even with very high plasma concentrations. The second case suggests the necessity of anticipating and avoiding hypoglycemia that can develop in children on chronic propranolol therapy when caloric intake is impaired.

scholarly journals Geno-phenotypic characteristics of Ehlers–Danlos syndrome: difficulties of disease type identification and approaches to pathogenetic treatment

2021 ◽  
Vol 66 (1) ◽  
pp. 22-30
Author(s):  
E. A. Nikolaeva ◽  
A. N. Semyachkina
Keyword(s):  
Connective Tissue ◽  
Clinical Symptoms ◽  
Molecular Genetic ◽  
Symptomatic Treatment ◽  
Pathological Process ◽  
Social Adaptation ◽  
Molecular Defect ◽  
Ehlers Danlos Syndrome ◽  
Pathogenetic Therapy ◽  
Danlos Syndrome

Veltischev Researchand Clinical Institutefor Pediatricsofthe Pirogov Russian National Research Medical University, Moscow, Russia The article presents modern data on the most common monogenic connective tissue disease – Ehlers–Danlos syndrome. The authors describe two previous classifications of the syndrome: Berlin (1988) classification, which distinguishes 11 types of the disease, and Beyton (1998) classification, which includes 6 types of the syndrome and takes into account the results of molecular genetic studies. Particular attention is paid to a new classification, proposed by the International Consortium in 2017. This classification is based on the clinical and molecular genetic data and unites 13 types of Ehlers–Danlos syndrome, divided in 7 groups (A–G), depending on the main molecular defect. This defect determines the violation of various collagen structures (primary, spatial, cross-linking) and others constituents of the connective tissue (myomatrix, glycosaminoglycans, complement component, etc.). The classification provides general clinical symptoms for all types of the disease and comprehensive information on the specific signs of each of the 13 types of the syndrome.The authors discuss approaches to the pathogenetic therapy of the syndrome, the possibilities of symptomatic treatment, including both medications of different spectrum of action, and physiotherapeutic measures, exercise therapy. The complex of the listed therapeutic measures is aimed at stabilizing the main pathological process, preventing complications, improving the patient’s quality of life and social adaptation. The authors emphasize that correct patient management, targeted medical supervision and medical genetic counseling requires molecular genetic verification of the diagnosis.

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