scholarly journals A Retrospective Study of Nine Patients with Progressive Pseudorheumatoid Dysplasia: To Explore Early Diagnosis and Further Treatment

2021 ◽  
Author(s):  
Lei Yin ◽  
Youying Mao ◽  
Yunfang Zhou ◽  
Yongnian shen ◽  
Huijin Chen ◽  
...  
Keyword(s):  
Vitamin D ◽  
Retrospective Study ◽  
Vitamin D Deficiency ◽  
Clinical Manifestations ◽  
Normal Range ◽  
Radiographic Findings ◽  
Progressive Pseudorheumatoid Dysplasia ◽  
Abnormal Gait ◽  
Laboratory Test Results ◽  
Vertebral Bodies

Abstract Background: Most patients with progressive pseudorheumatoid dysplasia (PPRD) are initially misdiagnosed because of disease rarity and lack of awareness by most clinicians. The purpose of this present study was to provide further early diagnostic options and potential treatment to patients with PPRD. Methods: This was a retrospective study. Clinical manifestations, laboratory test results, radiographic features, Sanger Sequencing to determine CCN6 gene variants, treatment and follow-up records were collected in the patients with PPRD. Time to diagnosis, phenotype and genotype correlation were analyzed. Results: Nine PPRD children were included. There were 3 pairs of siblings and one patient had parental consanguinity. Five patients were misdiagnosed as juvenile idiopathic arthritis (JIA). The onset of disease in 8 patients was between 3 to 6 years of age. The interval from onset of symptoms to obtaining the diagnosis for 8 of the patients varied from 3.6 years to 20 years. The onset of symptoms included enlarged and stiff interphalangeal joints of the fingers, gait disturbance or joint pain. Laboratory tests revealed normal range of inflammatory parameters. Serum levels of 25-hydroxyvitamin D3 in six patients were below the normal range. Radiographic findings included different degree of abnormal vertebral bodies, epiphyseal enlargement of the interphalangeal joints with juxta-articular osteopenia, or cyst-like structures femoral head. All the patients harbored CCN6 variants, and a total of 7 variants were identified. After the treatment of calcitriol in 5 patients with low level of 25-hydroxyvitamin D3 for 1.25 years to 1.75 years, two of them kept stable, while 3 of them improved gradually. Conclusions: Combining the patient’s family history, clinical features presenting with abnormal gait or enlarged and stiff interphalangeal joints of the fingers, normal inflammatory markers, and the characteristic radiographic findings, we can obtain the clinical diagnosis of PPRD for the patients at a very early stage of the disease. Anterior blunt of the vertebral bodies could be an early radiological sign in the patient even without obvious clinical symptoms and characteristics yet. The patients with PPRD having c.624dupA variant in CCN6 may have delayed onset. Underlying vitamin D deficiency should be sought and corrected in patients with PPRD. Keywords: progressive pseudorheumatoid dysplasia; noninflammatory; articular cartilage; CCN6 gene variant; vitamin D deficiency

scholarly journals Systematical analysis of nine Chinese patients with progressive pseudorheumatoid dysplasia and assessment of calcitriol treatment

2020 ◽  
Author(s):  
Lei Yin ◽  
Youying Mao ◽  
Yunfang Zhou ◽  
yongnian Shen ◽  
Huijin Chen ◽  
...  
Keyword(s):  
Early Stage ◽  
Clinical Manifestations ◽  
Blood Analysis ◽  
Chinese Patients ◽  
Compound Heterozygous ◽  
Normal Range ◽  
Treatment Benefit ◽  
Radiographic Findings ◽  
Progressive Pseudorheumatoid Dysplasia ◽  
Abnormal Gait

Abstract Background: Progressive pseudorheumatoid dysplasia (PPRD) (MIM 208230) is a rare genetic disease characterized by progressive noninflammatory arthropathy affecting primarily the articular cartilage. Most patients are initially misdiagnosed because of the rarity of the disease and lack of awareness by most clinicians. Therefore, the purpose of the present study was to provide further diagnostic options to help clinicians make early precise diagnosis, and to investigate a new potential treatment for patients with PPRD. Methods: Clinical manifestations, radiographic features, Sanger Sequencing to determine WISP3 gene mutation and follow-up records were collected in 9 Chinese patients with PPRD. The time until diagnosis, relationship between clinical phenotypes and genotypes, and treatment effects were analyzed. Results: The clinical history and characteristics, mutations in the WISP3 gene, radiological data, treatment and outcome of 9 PPRD children were collected and reviewed. There were 3 pairs of siblings in this group and one patient had parental consanguinity. Five patients were misdiagnosed with juvenile idiopathic arthritis (JIA). The onset of disease in most patients (8/9) was between 3 and 6 years of age. The interval between onset of symptoms and obtaining the diagnosis for 8 of the patients varied between 3.6 years to 20 years. The onset of symptoms included enlarged and stiff interphalangeal joints of the fingers, gait disturbance or joint pain. Blood analysis revealed normal range of inflammatory parameters (erythrocyte sedimentation rate, C-reactive protein). Serum levels of 25-hydroxyvitamin D3 were analyzed in six patients and ranged from 6.16 to 22.1ng/ml, all lower than the normal range. Radiographic findings included different degree of abnormal vertebral bodies, epiphyseal enlargement of the interphalangeal joints with juxta-articular osteopenia, or reduction in hip articular space and cyst-like structures femoral head. A total of 7 variants in the WISP3 gene were identified in the 9 cases, presenting with three homozygous variants (c.397_404delCAAGTGTT, c.667T>G, and c.589+2T>C) and three compound heterozygous variants (c.589+2T>C/c.667T>G, c.624dupA/c.756C>A, and c.646T>C/c.1000T>C). After the treatment of calcitriol in the 6 patients with low level of 25-hydroxyvitamin D3 for 1.25 years to 1.75 years, two cases showed stable clinical disease activity and the other four patients joints’ pain and abnormal gait had improved. Conclusions: Combining the patient’s family history, clinical features presenting with abnormal gait or enlarged and stiff interphalangeal joints of the fingers, normal inflammatory markers, and the characteristic radiographic findings, we can obtain the clinical diagnosis of PPRD for the patients at a very early stage of the disease. The patients with PPRD having c.624dupA mutation in WISP3 may have delayed onset. Calcitriol showed treatment benefit by improving symptoms and decelerating progression of PPRD disease.

scholarly journals Vitamin D Deficiency in South Sharqiya in Oman and its Impact in ENT Patients- A Retrospective Study

2016 ◽  
Vol 24 (3) ◽  
pp. 122-128
Author(s):  
Hasan Abdul Cader Segana ◽  
Reghunandanan Nair ◽  
Fahim Ahmed Shah
Keyword(s):  
Vitamin D ◽  
Retrospective Study ◽  
Vitamin D Deficiency ◽  
Clinical Manifestations ◽  
Serum Vitamin ◽  
Vitamin D Supplementation ◽  
Socioeconomic Background ◽  
Vitamin D Metabolism ◽  
Serum Vitamin D ◽  
Vitamin D Levels

Introduction Vitamin D deficiency has multitude of causes and can present with varying clinical manifestations. Studies show that it can lead on to recurrent respiratory infections, ear infections and deafness. Vitamin D also has immunomodulant action. Here we discuss the varying features concerning an Otolaryngologist in general as far as Vitamin D metabolism is concerned. Materials and Methods This retrospective study was performed on 800 patients 152 males and 648 females of different socioeconomic background at secondary level regional referral hospital under Ministry of Health in Sultanate of Oman. The patients attending the outpatient clinic with various complaints and not responding to conventional treatment were advised for assessment of vitamin D [25 (OH) D] level in blood. The patients were evaluated with general history, blood samples of serum calcium, phosphate, alkaline phosphatase and serum vitamin D level were measured by the most standardized laboratory of the country. Results Out of 800 patients, 275 cases had Vitamin D levels below 20 ng/ml and 167 patients had values greater than 30 ng/ml in serum.81% patients with vitamin D deficiency were females.56.25% patients were between third and sixth decade. Otolaryngologic manifestations were acute and recurrent URTI (n=352) 44%. 7% of the patients presented with recurrent ear infection (otitis externa). The rest of them presented to a lesser extent with deafness, otosclerosis. Discussion Vitamin D deficiency has been reported worldwide as one of the commonest deficiency diseases. It can lead to autoimmune dysfunctions, Beta cell dysfunction in pancreas, Multiple sclerosis, recurrent chest infections and congestive cardiac failure. Studies have shown the involvement of cochlea with sensorineural hearing loss and otosclerosis. Conclusion Vitamin D deficiency has multi system implications as patients presenting with different signs and symptoms. Mass level screening and vitamin D supplementation should be planned to decrease its varied and multidimensional ill effects on health. Adequate vitamin D supplementation and sensible sunlight exposure to reach optimal vitamin D status are among the front line factors of prophylaxis for spectrum of disorders.

scholarly journals To Supplement or not to Supplement? The Rationale of Vitamin D Supplementation in Systemic Lupus Erythematosus

2018 ◽  
Vol 12 (1) ◽  
pp. 226-247 ◽  
Author(s):  
Alessandra Nerviani ◽  
Daniele Mauro ◽  
Michele Gilio ◽  
Rosa Daniela Grembiale ◽  
Myles J. Lewis
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Lupus Erythematosus ◽  
Clinical Manifestations ◽  
Vitamin D Supplementation ◽  
Current Evidence ◽  
Systemic Lupus ◽  
Vitamin D Receptors ◽  
Vitamin D Levels

Background: Systemic Lupus Erythematosus (SLE) is a systemic autoimmune disease characterised by abnormal activation of the immune system, chronic inflammation and organ damage. Lupus patients are more prone to be vitamin D deficient. However, current evidence is not conclusive with regards to the role played by vitamin D in SLE development, progression, and clinical manifestations. Objective: Here, we will summarise the current knowledge about vitamin D deficiency prevalence, risk factors, molecular effects, and potential pathogenic role in SLE. We will focus on the link between vitamin D deficiency and lupus clinical manifestations, and on the clinical trials assessing the effects of vitamin D supplementation in SLE. Method: A detailed literature search was performed exploiting the available databases, using “vitamin D and lupus/SLE” as keywords. The relevant interventional trials published over the last decade have been considered and the results are reported here. Conclusion: Several immune cells express vitamin D receptors. Thus, an immunomodulatory role for vitamin D in lupus is plausible. Numerous observational studies have investigated the relationship between vitamin D levels and clinical/serological manifestations of SLE with contrasting results. Negative correlations between vitamin D levels and disease activity, fatigue, renal and cardiovascular disease, and anti-dsDNA titres have been described but not conclusively accepted. In experimental models of lupus, vitamin D supplementation can improve the disease. Interventional trials have assessed the potential therapeutic value of vitamin D in SLE, but further larger studies are needed.

scholarly journals Waddling Gait: A complication of valproate therapy and a thought beyond vitamin D deficiency

2020 ◽  
Vol 20 (1) ◽  
pp. 104 ◽  
Author(s):  
Amit Sharma ◽  
Siddhartha Sinha ◽  
Amit Narang ◽  
Dushyant K. Chouhan ◽  
Sumit Gupta
Keyword(s):  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Sodium Valproate ◽  
Muscle Weakness ◽  
Serum Alkaline Phosphatase ◽  
Elevated Serum ◽  
Drug Induced ◽  
Childhood Disorders ◽  
Abnormal Gait ◽  
Proximal Myopathy

Proximal muscle weakness is a common presentation in paediatric-orthopaedic clinics and is frequently paired with a vitamin D deficiency diagnosis. Recently, side effects of the extensive use of antiepileptic and antipsychotic drugs such as sodium valproate in childhood disorders are being documented. Sodium valproate causes a time-dependent, drug-induced proximal myopathy. We report a 13-year-old female patient who presented at the Orthopaedic Outpatient Department at Lady Hardinge Medical College, New Delhi, India, in 2019 with an abnormal gait. The patient was taking a combination therapy of sodium valproate, risperidone and trihexyphenidyl for absence seizures and a mood disorder. Following clinical investigations, the patient was diagnosed with proximal myopathy. As a result of elevated serum alkaline phosphatase and creatine kinase myocardial band levels, sodium valproate was replaced with ethosuximide and a carnitine supplementation was prescribed. The patient fully recovered and regained full mobility. Proximal myopathy had been incorrectly managed and assumed to be caused by a vitamin D deficiency.Keywords: Muscle Weakness; Carnitine; Myopathy; Valproic Acid; Vitamin D Deficiency; Gait; Case Report; India.

The anti-thrombotic effects of vitamin D and their possible relationship with antiphospholipid syndrome

Lupus ◽  
2018 ◽  
Vol 27 (14) ◽  
pp. 2181-2189 ◽  
Author(s):  
M García-Carrasco ◽  
E A Jiménez-Herrera ◽  
J L Gálvez-Romero ◽  
C Mendoza-Pinto ◽  
S Méndez-Martínez ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Antiphospholipid Syndrome ◽  
Inflammatory Diseases ◽  
Clinical Manifestations ◽  
Serum Levels ◽  
Protective Role ◽  
Current Data ◽  
Current Evidence ◽  
Autoimmune Conditions

The importance of the immunomodulatory effects of vitamin D has recently been associated with autoimmune and chronic inflammatory diseases. Vitamin D deficiency has been linked to the development of autoimmune conditions. Antiphospholipid syndrome is an autoimmune disease characterized by thrombotic events and obstetric complications in patients with antiphospholipid antibodies. Current data show that patients with antiphospholipid syndrome have a high prevalence of vitamin D deficiency even without classic risk factors. Several studies have suggested vitamin D may have anti-thrombotic functions. In antiphospholipid syndrome, low vitamin D serum levels have been associated with thrombotic manifestations, suggesting a possible protective role of vitamin D in antiphospholipid syndrome. This literature review presents current evidence on the haemostatic functions of vitamin D and their possible relationship with the clinical manifestations of antiphospholipid syndrome.

scholarly journals 25-Hydroxylase vitamin D deficiency in 27 Saudi Arabian subjects: a clinical and molecular report on CYP2R1 mutations

2021 ◽  
Author(s):  
Sarah Bakhamis ◽  
Faiqa Imtiaz ◽  
Khushnooda Ramzan ◽  
Edward De Vol ◽  
Osamah AlSagheir ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
Research Centre ◽  
Heterozygous Mutation ◽  
Hydroxylase Deficiency ◽  
Treatment And Prevention ◽  
Genetic Features ◽  
High Doses

Vitamin-D deficiency remains a major cause of rickets worldwide. Nutritional factors are the major cause and less commonly inheritance causes. Recently, CYP2R1 has been reported as a major factor for 25-hydroxylation contributing to the inherited forms of vitamin D deficiency. We conducted a prospective cohort study at King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia to review cases with 25-hydroxylase deficiency and to describe their clinical, biochemical, and molecular genetic features. We analyzed 27 patients from 9 different families who presented with low 25-OH vitamin-D and not responding to usual treatment. Genetic testing identified two mutations: c.367+1G>A (12/27 patients) and c.768dupT (15/27 patients), where 18 patients were homozygous for their identified mutation and 9 patients were heterozygous. Both groups had similar clinical manifestations ranging in severity, but none of the patients with heterozygous mutation had hypocalcemic manifestations. 13/18 of homozygous patients and all the heterozygous patients responded to high doses of vitamin-D treatment, but they regressed after decreasing the dose, requiring lifelong therapy. 5/18 of homozygous patients required calcitriol to improve their biochemical data, whereas none of the heterozygous patients and patients who carried the c.367+1G>A mutation required calcitriol treatment. To date, this is the largest cohort series analyzeing CYP2R1-related 25-hydroxylase deficiency worldwide, supporting its major role in 25-hydroxylation of vitamin-D. It is suggested that a higher percentage of CYP2R1 mutations might be found in the Saudi population. We believe that our study will help in the diagnosis, treatment, and prevention of similar cases in the future.

scholarly journals Symptomatic Hypocalcemiain Neonates Due to Maternal Hypovitaminosis D in Rural Tertiary Care Center: A Case Series

2021 ◽  
pp. 81-87
Author(s):  
Nitin S. Lingayat ◽  
Saloni Manwani ◽  
Bratati S. Mishra
Keyword(s):  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Complete Blood Count ◽  
Care Center ◽  
Tertiary Care ◽  
Clinical Manifestations ◽  
Case Series ◽  
Hypovitaminosis D ◽  
Vitamin D Supplementation ◽  
Suspected Sepsis

Vitamin D deficiency in neonates is not uncommon and is characterized by severe hypocalcemic symptoms. In babies with poor vitamin D resources, calcium, phosphorus, and homeostasis are affected, leading to neonatal hypocalcaemia clinical manifestations. Newborn babies with vitamin D deficiency are at risk of deficiency and hypocalcaemia. Therefore, vitamin D supplementation in pregnant and lactating mothers should be routinely considered. Of newborns with symptomatic hypocalcaemia admitted in Level III NICU in the rural part of western Maharashtra from October 2019 to September 2020 were reviewed. These babies were admitted to NICU due to several illnesses, including suspected sepsis, tachypnea, jaundice, etc. They were investigated for sepsis screen including Complete Blood count, CRP, Blood culture, CSF analysis. Cranial USG through anterior fontanelle and Neuro imaging and Electroencephalogram were done wherever necessary. This study intends to highlight the manifestation of maternal hypovitaminosis D on the mother and its effects on the neonate. Maternal hypovitaminosis leads to neonatal hypovitaminosis D and can present as hypocalcaemia.

scholarly journals “Vitamin D Deficiency Is More Common in Women with Autoimmune Thyroiditis: A Retrospective Study”

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Nino Turashvili ◽  
Lali Javashvili ◽  
Elene Giorgadze
Keyword(s):  
Vitamin D ◽  
Retrospective Study ◽  
Vitamin D Deficiency ◽  
Autoimmune Thyroiditis ◽  
Thyroid Stimulating Hormone ◽  
Primary Hypothyroidism ◽  
Thyroid Autoantibody ◽  
Chronic Autoimmune Thyroiditis ◽  
Antithyroglobulin Antibodies ◽  
Stimulating Hormone

Background. Vitamin D is a hormone that is mainly produced in the skin upon ultraviolet B radiation exposure and has important influence on various organs. In recent years, data have been collected that vitamin D deficiency plays an important role in the development of various nonskeletal diseases, including autoimmune diseases. Chronic autoimmune thyroiditis (Hashimoto’s thyroiditis) is one of the most common organ-specific autoimmune endocrine diseases. It is characterized by increased level of antithyroid peroxidase and/or antithyroglobulin antibodies in blood, which often leads to thyroid dysfunction and structural changes of the gland. There is an opinion that vitamin D deficiency may be considered as an important risk factor for development of chronic autoimmune thyroiditis, but data of various small studies are controversial. Despite the fact that Georgia is a sunny country, vitamin D deficiency is a widespread problem here. Thyroid diseases, including the chronic autoimmune thyroiditis, are also very common in Georgia. The aim of our research was to compare the level of vitamin D between the patients with chronic autoimmune thyroiditis and the healthy subjects. Methods. This retrospective study enrolled subjects, who were 18–70 years old and visited the clinics “Cortex” and “National Institute of Endocrinology” in 2018 or in 2019 from mid-spring to mid-summer. Data of thyroid-stimulating hormone, free thyroxine, antithyroid peroxidase antibodies, antithyroglobulin antibodies, thyroid ultrasonography, and 25(OH) vitamin D were retrospectively analysed based on medical history. In total, data of 1295 patients were collected. The statistical processing of data was performed through the SPSS 20 program. Results. The negative association between thyroid-stimulating hormone, antithyroid peroxidase antibodies, antithyroglobulin antibodies, heterogeneous parenchyma of thyroid gland, and vitamin D was found in women. Statistically significant association was not detected in men. Conclusions. Serum vitamin D is lower in women with autoimmune thyroiditis and primary hypothyroidism. Further studies are needed to evaluate the influence of vitamin D supplementation on thyroid autoantibody positivity or primary hypothyroidism.

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