Early Diagnosis of 6-Pyruvoyl-tetrahydropterin Synthase Deficiency

Pteridines ◽  
1994 ◽  
Vol 5 (1) ◽  
pp. 18-27 ◽  
Author(s):  
Haruo Shintaku
Keyword(s):  
Early Diagnosis ◽  
Early Treatment ◽  
Healthy Subjects ◽  
Family Members ◽  
Neurological Injury ◽  
Tetrahydrobiopterin Deficiency ◽  
Urinary Levels ◽  
The Mean ◽  
Neurotransmitter Precursors ◽  
Prompt Diagnosis

Summary 6-Pyruvoyl-tetrahydropterin synthase (PTPS) deficiency, which used to be called dihydrobiopterin synthase deficiency, is the most common kind of tetrahydrobiopterin deficiency. Early treatment by administration of tetrahydrobiopterin and neurotransmitter precursors helps to prevent neurological injury, so prompt diagnosis of neonates with hyperphenylalaninemia discovered by screening for phenylketonuria is necessary. Three patients with PTPS deficiency were diagnosed by pteridine analysis. All patients had low biopterin and high neopterin levels in the urine, resulting in a neopterin to biopterin ratio (N/B)much higher than that of age-matched controls. The mean NIB in the parents of these patients was twice that of healthy unrelated adults. PTPS activity was measured in one of these patients with PTPS deficiency and in his family members; the patient was homozygous and his parents were heterozygous for PTPS deficiency. This result meant that N/Bcould be used as an index of PTPS activity. In healthy subjects studied cross-sectionally, urinary levels of pteridine decreased in groups of increasing age, and the same change was found in subjects with hyperphenylalaninemia studied cross-sectionally. Thus, pteridine values of patients can be compared meaningfully only with age-matched controls. The urinary N/Bis useful for the diagnosis of homozygotes and heterozygotes for PTPS deficiency.

METHODOLOGICAL STUDY OF THE RADIOIMMUNOASSAY OF HUMAN THYROTROPHIN

1972 ◽  
Vol 71 (1) ◽  
pp. 24-36 ◽  
Author(s):  
Ariel Gordin ◽  
Pirkko Saarinen
Keyword(s):  
Healthy Subjects ◽  
Binding Capacity ◽  
Paper Electrophoresis ◽  
Storage Conditions ◽  
Methodological Study ◽  
Double Antibody ◽  
The Mean ◽  
Specific Activities ◽  
Initial Binding ◽  
In Pregnancy

ABSTRACT An account is given of a methodological study of the double-antibody radioimmunoassay of human TSH, using highly purified labelled human TSH as tracer. It was shown that conventional paper electrophoresis was not adequate for studying the purity of labelled human TSH. When polyvinylchloride (Pevikon®) electrophoresis was used, four subfractions could still be separated, even though, on paper electrophoresis, the material seemed to be homogeneous. Only two of the four Pevikon fractions were immunoreactive. Purification of labelled human TSH by Pevikon electrophoresis also improved the sensitivity of the assay. Specific activities of about 100 mCi/mg gave the highest initial binding capacity, produced least damage to the labelled hormone and showed the best stability of the tracer without influencing the sensitivity of the method. In different storage conditions, labelled human TSH was found to be most stable at −20°C and diluted 1/100. Only in pregnancy did the addition of HCG seem necessary. The mean TSH value in healthy subjects was 3.6 ± 1.4 μU/ml (mean±sd) with a range from 1.6 μU/ml to 8.8 μU/ml.

The Y-shaped trabecular bone structure in the odontoid process of the axis: a CT scan study in 54 healthy subjects and biomechanical considerations

2019 ◽  
Vol 30 (5) ◽  
pp. 585-592 ◽  
Author(s):  
Nicola Montemurro ◽  
Paolo Perrini ◽  
Vittoriano Mangini ◽  
Massimo Galli ◽  
Andrea Papini
Keyword(s):  
Ct Scan ◽  
Healthy Subjects ◽  
Bone Structure ◽  
Cone Beam Ct ◽  
Odontoid Process ◽  
Trabecular Structure ◽  
Anatomical Entity ◽  
Significant Difference ◽  
Axial Ct ◽  
The Mean

OBJECTIVEOdontoid process fractures are very common in both young and geriatric patients. The axial trabecular architecture of the dens appears to be crucial for physiological and biomechanical function of the C1–2 joint. The aim of this study is to demonstrate the presence of a Y-shaped trabecular structure of the dens on axial CT and to describe its anatomical and biomechanical implications.METHODSFifty-four C2 odontoid processes in healthy subjects were prospectively examined for the presence of a Y-shaped trabecular structure at the odontocentral synchondrosis level with a dental cone beam CT scan. Length, width, and axial area of the odontoid process were measured in all subjects. In addition, measurements of the one-third right anterior area of the Y-shaped structure were taken.RESULTSThe Y-shaped trabecular structure was found in 79.6% of cases. Length and width of the odontoid process were 13.5 ± 0.6 mm and 11.2 ± 0.9 mm, respectively. The mean area of the odontoid process at the odontocentral synchondrosis was 93.5 ± 4.3 mm2, whereas the mean one-third right anterior area of the odontoid process at the same level was 29.3 ± 2.5 mm2. The mean area of the odontoid process and its length and width were similar in men and women (p > 0.05). No significant difference was found in the mean area of the odontoid process in people older than 65 years (94 ± 4.2 mm2) compared to people younger than 65 years (93.3 ± 4.4 mm2; p > 0.05).CONCLUSIONSThe authors identified a new anatomical entity, named the Y-shaped trabecular structure of the odontoid process, on axial CT scans. This structure appears to be the result of bone transformation induced by the elevated dynamic loading at the C1–2 level. The presence of the Y-shaped structure provides new insights into biomechanical responses of C2 under physiological loading and traumatic conditions.

Association of Serum Homocysteine Level and Interstitial Lung Disease in Systemic Sclerosis: A Case-control Study

2018 ◽  
Vol 15 (1) ◽  
pp. 74-78
Author(s):  
Mohammadali Nazarinia ◽  
Asghar Zare ◽  
Mohammad javad Fallahi ◽  
Mesbah Shams
Keyword(s):  
Systemic Sclerosis ◽  
Healthy Subjects ◽  
Case Control Study ◽  
Homocysteine Level ◽  
Case Control ◽  
Control Group ◽  
Lung Involvement ◽  
Serum Homocysteine ◽  
The Mean ◽  
Control Study

Background:Systemic sclerosis is a disorder of connective tissue with unknown cause, affecting the skin and internal organs, characterized by fibrotic changes.Objective:To determine the correlation between serum homocysteine level and interstitial lung involvement in systemic sclerosis. </P><P> Materials and Methods: In this case – control study, 59 patients who fulfilled the ACR/EULAR classification criteria for systemic sclerosis and were referred to Hafez Hospital of Shiraz, Iran, were included as the case group. Fifty nine healthy subjects were involved as the control group. Patients were divided into two groups based on interstitial lung involvement and two subtypes, diffuse and limited type. Serum homocysteine, vitamin B12, and folate levels compared between the controls, and cases groups.Results:Of 59 case and control group, 53 (%89.8) were female and the mean age did not differ in both groups (P=0.929). Thirty five (%59.3) patients had interstitial lung involvement and 38(%64.4) had diffuse cutaneous systemic sclerosis. The mean serum homocysteine level was 13.9±6.3 µmol/L in the case and 13.7±9.2 µmol/L in the control group (P=0.86). The mean serum homocysteine level did not differ between the patients with and without interstitial lung involvement (P=0.52). The patients with lung involvement was older than those without lung involvement (P=0.004). Lung disease was more common in diffuse type (P=0.014).Conclusion:In our study, serum homocysteine level did not differ between the patients and healthy subjects. Also, there was no correlation between serum homocysteine level and lung involvement, but lung involvement was more common in older patients and also diffuse subtype.

Quality Assessment of Health Information about Scaphoid Fracture in Chinese Websites (Preprint)

2019 ◽  
Author(s):  
Yaobin Yin ◽  
Jianguang Ji ◽  
Peng Lu ◽  
Wenyao Zhong ◽  
Liying Sun ◽  
...  
Keyword(s):  
Social Networks ◽  
Health Information ◽  
Search Engines ◽  
Medical Information ◽  
Scaphoid Fracture ◽  
Family Members ◽  
Online Information ◽  
Specific Content ◽  
The Mean

BACKGROUND With online health information becoming increasingly popular among patients and their family members, concerns have been raised about the accuracy from the websites. OBJECTIVE We aimed to evaluate the overall quality of the online information about scaphoid fracture obtained from Chinese websites using the local search engines. METHODS We conducted an online search using the keyword “scaphoid fracture” from the top 5 search engines in China, i.e. Baidu, Shenma, Haosou, Sougou and Bing, and gathered the top ranked websites, which included a total of 120 websites. Among them, 81 websites were kept for further analyses by removing duplicated and unrelated one as well as websites requiring payment. These websites were classified into four categories, including forum/social networks, commercials, academics and physician’s personals. Health information evaluation tool DISCERN and Scaphoid Fracture Specific Content Score (SFSCS) were used to assess the quality of the websites. RESULTS Among the 81 Chinese websites that we studied, commercial websites were the most common one accounting more than half of all websites. The mean DISCERN score of the 81 websites was 25.56 and no website had a score A (ranging from 64 to 80).The mean SFSCS score was 10.04 and no website had a score A (range between 24 and 30). In addition, DISCERN and SFSCS scores from academic and physician’s websites were significantly higher than those from the forum/social networks and commercials. CONCLUSIONS The overall quality of health information obtained from Chinese websites about scaphoid fracture was very low, suggesting that patients and their family members should be aware such deficiency and pay special attentions for the medical information obtained by using the current search engines in China.

One-year real-life results on effect of intravitreal aflibercept in patients with diabetic macular oedema switched from ranibizumab

2020 ◽  
pp. 112067212092727
Author(s):  
Marko Lukic ◽  
Gwyn Williams ◽  
Zaid Shalchi ◽  
Praveen J Patel ◽  
Philip G Hykin ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Diabetic Retinopathy ◽  
Early Treatment ◽  
Macular Oedema ◽  
Real Life ◽  
Diabetic Macular Oedema ◽  
Foveal Thickness ◽  
Macular Volume ◽  
Central Foveal Thickness ◽  
The Mean

Purpose To assess visual and optical coherence tomography–derived anatomical outcomes of treatment with intravitreal aflibercept (Eylea®) for diabetic macular oedema in patients switched from intravitreal ranibizumab (Lucentis®). Design Retrospective, cohort study. Participants Ninety eyes (of 67 patients) receiving intravitreal anti–vascular endothelial growth factor therapy were included. Methods This is a retrospective, real-life, cohort study. Each patient had visual acuity measurements and optical coherence tomography scans performed at baseline and 12 months after the first injection of aflibercept was given. Main Outcome Measures We measured visual acuities in Early Treatment Diabetic Retinopathy Study letters, central foveal thickness and macular volume at baseline and at 12 months after the first aflibercept injection was given. Results Ninety switched eyes were included in this study. The mean (standard deviation) visual acuity was 63 (15.78) Early Treatment Diabetic Retinopathy Study letters. At baseline, the mean (standard deviation) central foveal thickness was 417.7 (158.4) μm and the mean macular volume was 9.96 (2.44) mm3. Mean change in visual acuity was +4 Early Treatment Diabetic Retinopathy Study letters (p = 0.0053). The mean change in macular volume was −1.53 mm 3 in SW group (p = 0.21), while the change in central foveal thickness was −136.8 μm (p = 0.69). Conclusion There was a significant improvement in visual acuity and in anatomical outcomes in the switched group at 12 months after commencing treatment with aflibercept for diabetic macular oedema.

A case of minimal change disease during pregnancy – Benefits of early diagnosis and use of corticosteroids

2021 ◽  
pp. 1753495X2199021
Author(s):  
Priyanka S Sagar ◽  
Eddy Fischer ◽  
Muralikrishna Gangadharan Komala ◽  
Bhadran Bose
Keyword(s):  
Nephrotic Syndrome ◽  
Early Diagnosis ◽  
Renal Biopsy ◽  
Early Pregnancy ◽  
Minimal Change Disease ◽  
Minimal Change ◽  
Risk Of Bleeding ◽  
Increased Risk ◽  
Prompt Diagnosis ◽  
In Pregnancy

Nephrotic syndrome presenting in pregnancy is rare and poses a diagnostic and therapeutic challenge. Timing of renal biopsy is important given the increased risk of bleeding and miscarriage, and the choice of immunosuppression is limited due to the teratogenicity profiles of standard drugs. We report and discuss a case of minimal change disease diagnosed by renal biopsy during early pregnancy and treated with corticosteroids throughout the pregnancy. Prompt diagnosis and treatment of glomerular disease in pregnancy are vital to prevent poor maternal and fetal outcomes.

scholarly journals Retinal vascular findings in patients with COVID-19

2021 ◽  
Vol 13 ◽  
pp. 251584142110304
Author(s):  
Emre Aydemir ◽  
Alper Halil Bayat ◽  
Burak Ören ◽  
Halil Ibrahim Atesoglu ◽  
Yasin Şakir Göker ◽  
...  
Keyword(s):  
Healthy Subjects ◽  
Fundus Photography ◽  
Control Group ◽  
Fundus Fluorescein Angiography ◽  
University Of Wisconsin ◽  
Retinal Vascular Caliber ◽  
Retinal Artery ◽  
The Mean ◽  
And Gender ◽  
College Of Engineering

Purpose: The purpose of this study was to compare the retinal vascular caliber of COVID-19 patients with that of healthy subjects. Methods: This was a prospective case–control study. Forty-six patients who had COVID-19 were successfully treated, and 38 age- and gender-matched healthy subjects were enrolled in this study. Fundus photography was taken using fundus fluorescein angiography (FA; Visucam 500; Carl Zeiss Meditec, Jena, Germany). Retinal vascular caliber was analyzed with IVAN, a semi-automated retinal vascular analyzer (Nicole J. Ferrier, College of Engineering, Fundus Photography Reading Center, University of Wisconsin, Madison, WI, USA). Central retinal artery equivalent (CRAE), central retinal vein equivalent (CRVE), and artery–vein ratio (AVR) were compared between groups. Results: The mean age was 37.8 ± 9.5 years in the COVID-19 group ( n = 46) and 40 ± 8 years in the control group ( n = 38) ( p = 0.45). The mean CRAE was 181.56 ± 6.40 in the COVID-19 group and 171.29 ± 15.06 in the control group ( p = 0.006). The mean CRVE was 226.34 ± 23.83 in the COVID-19 group and 210.94 ± 22.22 in the control group ( p = 0.044). AVR was 0.81 ± 0.09 in the COVID-19 group and 0.82 ± 0.13 in the control group ( p = 0.712). Conclusion: Patients who had COVID-19 have vasodilation in the retinal vascular structure after recovery. As they may be at risk of retinal vascular disease, COVID-19 patients must be followed after recovery.

scholarly journals The value of the added diffusion-weighted images to multiparametric MRI in the early diagnosis of uterine cervix cancers and nodal assessment

2021 ◽  
Vol 52 (1) ◽  
Author(s):  
Nasr Mohamed Osman ◽  
Mohamed Aboul-fotouh Mourad
Keyword(s):  
Early Diagnosis ◽  
Diagnostic Accuracy ◽  
Multiparametric Mri ◽  
Lesion Group ◽  
Cervical Lesions ◽  
Adc Value ◽  
Diffusion Weighted ◽  
Group I ◽  
Malignant Lesions ◽  
The Mean

Abstract Background Cervical cancer still one of the most common causes of tumor-related death in developing countries presented in younger women. In this study, we aimed to evaluate the value of diffusion-weighted MRI in early diagnosis of malignant cervical lesions, to assess metastatic adenopathy, peritoneal dissemination, and possible tumor recurrence, and determine treatment response. This study included 60 patients with abnormal vaginal bleeding and suspected cervical lesion by US. A histopathological biopsy was done. Pelvic MR with DWI and dynamic contrast-enhanced MRI were done for all patients. Results According to the histopathological findings, we divided our studied 60 patents into two groups: group I, malignant lesions (46 lesions; 76.7%), and group II, benign lesions (14 lesions; 23.3%). Multiparametric MRI could detect all cervical lesions but with poor pathologic characterization, achieving 72.37% sensitivity, 37.50% specificity, 63.33% accuracy, 76.19% PPV, and 33.33% NPV. When compared with DWI with ADC value measurements at high b value (b = 800) to MRI exam, it showed a higher diagnostic accuracy with good lesion pathological characterization that achieved 95.65% sensitivity, 71.43% specificity, 90% accuracy, 91.67 PPV, and 83.33% NPV. The mean ADC value for malignant lesions was 0.86–1.1, mean = 0.92 ± 0.71 × 10−3 mm2/s, while the mean ADC value in the benign lesion group was 1.18 ± 0.1 × 10–3 mm2/s. Conclusion Comparing DWI with ADC values measurements at high b value to the multiparametric MRI examination of the female pelvis increases the sensitivity, specificity, and diagnostic accuracy of characterization and early diagnosis of cervical malignant focal lesions and reduces the need for intravenous contrast administration.

scholarly journals Minimum Detectable Change of Visual Acuity Measurements Using ETDRS Charts (Early Treatment Diabetic Retinopathy Study)

2021 ◽  
Vol 18 (15) ◽  
pp. 7876
Author(s):  
María Carmen Sánchez-González ◽  
Raquel García-Oliver ◽  
José-María Sánchez-González ◽  
María-José Bautista-Llamas ◽  
José-Jesús Jiménez-Rejano ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Diabetic Retinopathy ◽  
Early Treatment ◽  
High Reliability ◽  
Minimal Detectable Change ◽  
High Contrast ◽  
Detectable Change ◽  
Low Contrast ◽  
Minimum Detectable Change ◽  
The Mean

In our work, we determined the value of visual acuity (VA) with ETDRS charts (Early Treatment Diabetic Retinopathy Study). The purpose of the study was to determine the measurement reliabilities, calculating the correlation coefficient interclass (ICC), the value of the error associated with the measure (SEM), and the minimal detectable change (MDC). Forty healthy subjects took part. The mean age was 23.5 ± 3.1 (19 to 26) years. Visual acuities were measured with ETDRS charts (96% ETDRS chart nº 2140) and (10% SLOAN Contrast Eye Test chart nº 2153). The measurements were made (at 4 m) under four conditions: Firstly, photopic conditions with high contrast (HC) and low contrast (LC) and after 15 min of visual rest, mesopic conditions with high and low contrast. Under photopic conditions and high contrast, the ICC = 0.866 and decreased to 0.580 when the luminosity and contrast decreased. The % MDC in the four conditions was always less than 10%. It was minor under photopic conditions and HC (5.83) and maximum in mesopic conditions and LC (9.70). Our results conclude a high reliability of the ETDRS test, which is higher in photopic and high contrast conditions and lower when the luminosity and contrast decreases.

Homeopathic Treatment of Subclinical Hypothyroidism—A Series of 19 Cases

Homeopathy ◽  
2021 ◽  
Author(s):  
Luiz Carlos Esteves Grelle ◽  
Luiz Antonio Bastos Camacho
Keyword(s):  
Subclinical Hypothyroidism ◽  
Clinical Importance ◽  
Clinical Problem ◽  
Thyroid Stimulating Hormone ◽  
Exclusion Criteria ◽  
The Mean ◽  
Common Clinical Problem ◽  
Prompt Diagnosis ◽  
Serum Tsh ◽  
Tsh Levels

Abstract Background Subclinical hypothyroidism (SCH) is a common clinical problem. Controversy surrounds the definition, clinical importance, and need for prompt diagnosis and treatment of the mild form of SCH. Aim The aim of the study was to analyze the evolution of serum thyroid stimulating hormone (TSH) levels after a therapeutic homeopathic intervention in women older than 40 years with SCH. Methods This study is a retrospective series of 19 cases of SCH, with serum TSH levels between 5 and 10 mIU/L, treated exclusively with homeopathic medicines prescribed on an individualized basis. Results Nineteen patients were included according to the inclusion and exclusion criteria. Their mean age was 56 years, they were followed for a mean duration of 69 months, the mean number of serum TSH level measurements was 18, and the intervention was successful for 13 patients. Conclusion The homeopathic therapeutic intervention was successful in 68% of the patients, with serum TSH levels back within the normal range (0.5–5.0 mIU/L).

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