METABOLIC AND ORTHOPEDIC ASPECT OF X-LINKED VITAMIN D-RESISTANT HYPOPHOSPHATEMIC RICKETS

2021 ◽  
pp. 42-43
Author(s):  
Rahul Kumar ◽  
Rajni Kumari ◽  
Shailesh Kumar ◽  
Santosh Kumar
Keyword(s):  
Vitamin D ◽  
Surgical Correction ◽  
Lower Limbs ◽  
Hypophosphatemic Rickets ◽  
Bone Lengthening ◽  
Normal Range ◽  
Bone Deformity ◽  
Bone Maturation ◽  
Leg Axis

INTRODUCTION: - The X-linked vitamin D-resistant hypophosphatemic rickets (VDXLR) is a metabolic disorder. Medication treatment consists of oral phosphate substitution and supplementation of active vitamin D compounds. Our study aimed to review our patients with VDXLR, focusing on those undergoing surgery, mainly lengthening procedures. The main parameters of interest were growth, height, the axis of the lower limbs, pain, and degenerative arthropathy. METHODS: - Twelve patients with VDXLR were followed at our institution. Eight patients underwent surgical correction, and three of them in combination with bone lengthening. The corrections were executed at the end of growth in the patients. Clinical end points were height, leg axis, and pain. RESULTS: - Single bilateral surgical correction was performed in six patients; one patient had three and ve corrections. Bone lengthening was performed in three patients. At the last follow-up, the height of seven operated patients was within normal range. In addition, the leg axis was normalized in six patients with mild genua vara in two. Bone healing was excellent, and no surgical complications. There was no one radiological evidence of degenerative arthropathy. CONCLUSIONS: - In case of bone deformity, surgery can safely be performed, independent of age or bone maturation. All patients were happy with the outcomes of axial corrective surgery and bone lengthening, and in the majority. Only one corrective intervention was needed.

scholarly journals Klippel–Trénaunay Syndrome – A Very Rare and Interesting Syndrome

2015 ◽  
Vol 9 ◽  
pp. CCRPM.S21645 ◽  
Author(s):  
Deepak Sharma ◽  
Sachin Lamba ◽  
Aakash Pandita ◽  
Sweta Shastri
Keyword(s):  
Soft Tissue ◽  
Vascular Malformation ◽  
Chronic Venous Insufficiency ◽  
Venous Insufficiency ◽  
Varicose Veins ◽  
Lower Limbs ◽  
Port Wine ◽  
Bone Deformity ◽  
Klippel Trenaunay Syndrome

Klippel–Trénaunay syndrome (KTS or KT) is an infrequently seen dermatological syndrome, which is often viewed as a triad of vascular malformation (capillary malformations or port-wine brands), venous varicosity, and soft tissue and/or bony hypertrophy. We report a case of a 12-year-old male who presented to us with the symptoms of varicose plaques over both lower limbs and was diagnosed as a case of KTS. Management is normally conservative and includes stockings for compression of the branches to reduce edema because of chronic venous insufficiency; modern devices that cause on and off pneumatic compression; and rarely, surgical correction of varicose veins with lifelong follow-up. The orthopedic abnormalities are treated with epiphysiodesis in order to prevent (stop) overgrowing of limb and correction of bone deformity.

scholarly journals Bone Lengthening with a Motorized Intramedullary Nail in 34 Patients with Posttraumatic Limb Length Discrepancies

2021 ◽  
Vol 10 (11) ◽  
pp. 2393
Author(s):  
Maxime Teulières ◽  
Tristan Langlais ◽  
Jérôme Sales de de Gauzy ◽  
Jan Duedal Rölfing ◽  
Franck Accadbled
Keyword(s):  
Weight Bearing ◽  
Limb Lengthening ◽  
Lower Limbs ◽  
Limb Length ◽  
Bone Lengthening ◽  
Important Conclusion ◽  
Pull Out ◽  
Significant Difference ◽  
The Mean

The Fitbone® motorized nail system has been used to correct limb length discrepancies (LLD) for several years. This study focuses on its application in posttraumatic limb lengthening surgery, its outcome and challenges. Materials and methods: A prospective, single center study was conducted between 2010 and 2019 in patients treated with motorized lengthening nails. The inclusion criteria were symptomatic LLD of 20 mm or more. An imaging analysis was done using TraumaCad® software (Brainlab AG, Munich, Germany) to compare frontal alignment angles and limb length discrepancy (LLD) on preoperative and latest follow-up radiographs of the lower limbs. Results: Thirty-four patients were included with a mean age of 28.8 ± 9.7 years, a mean follow-up of 27.8 ± 13 months and a mean hospital stay of 4.4 ± 1.7 days. The mean LLD was 44 ± 18 mm in 29 femoral and 32 ± 8 mm in 4 tibial cases, which was reduced to less than 10 mm in 25/34 (74%) patients. The mean healing index was 84.6 ± 62.5 days/cm for femurs and 92 ± 38.6 days/cm for tibias. The mean time to resume full weight-bearing without walking aids was 226 days ± 133. There was no significant difference between preoperative and final follow-up alignment angles and range of motion. The mechanical lateral distal femoral angle (mLDFA) was corrected in the subgroup of 10 LLD patients with varus deformity of the femur (preoperative 95.7° (±5.0) vs. postoperative 91.5° (±3.4), p = 0.008). According to Paley’s classification, there were 14 problems, 10 obstacles and 2 complications. Discussion: Six instances of locking screw pull out, often requiring reoperation, raise the question of whether a more systematic use of blocking screws that provide greater stability might be indicated. Lack of compliance can lead to poor outcomes, patient selection in posttraumatic LLD patients is therefore important. Conclusion: Limb lengthening with a motorized lengthening nail for posttraumatic LLD is a relatively safe and reliable procedure. Full patient compliance is crucial. In-depth knowledge of lengthening and deformity correction techniques is essential to prevent and manage complications.

Vitamin D Supplementation and Serum Levels of Magne-sium and Selenium in Type 2 Diabetes Mellitus Patients: Gender Dimorphic Changes

2014 ◽  
Vol 84 (1-2) ◽  
pp. 27-34 ◽  
Author(s):  
Nasser M. Al-Daghri ◽  
Khalid M. Alkharfy ◽  
Nasiruddin Khan ◽  
Hanan A. Alfawaz ◽  
Abdulrahman S. Al-Ajlan ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Vitamin D ◽  
Type 2 Diabetes Mellitus ◽  
Serum Levels ◽  
Vitamin D Supplementation ◽  
Serum Selenium ◽  
Dependent Manner

The aim of our study was to evaluate the effects of vitamin D supplementation on circulating levels of magnesium and selenium in patients with type 2 diabetes mellitus (T2DM). A total of 126 adult Saudi patients (55 men and 71 women, mean age 53.6 ± 10.7 years) with controlled T2DM were randomly recruited for the study. All subjects were given vitamin D3 tablets (2000 IU/day) for six months. Follow-up mean concentrations of serum 25-hydroxyvitamin D [25-(OH) vitamin D] significantly increased in both men (34.1 ± 12.4 to 57.8 ± 17.0 nmol/L) and women (35.7 ± 13.5 to 60.1 ± 18.5 nmol/L, p < 0.001), while levels of parathyroid hormone (PTH) decreased significantly in both men (1.6 ± 0.17 to 0.96 ± 0.10 pmol/L, p = 0.003) and women (1.6 ± 0.17 to 1.0 ± 0.14 pmol/L, p = 0.02). In addition, there was a significant increase in serum levels of selenium and magnesium in men and women (p-values < 0.001 and 0.04, respectively) after follow-up. In women, a significant correlation was observed between delta change (variables at six months-variable at baseline) of serum magnesium versus high-density lipoprotein (HDL)-cholesterol (r = 0.36, p = 0.006) and fasting glucose (r = - 0.33, p = 0.01). In men, there was a significant correlation between serum selenium and triglycerides (r = 0.32, p = 0.04). Vitamin D supplementation improves serum concentrations of magnesium and selenium in a gender-dependent manner, which in turn could affect several cardiometabolic parameters such as glucose and lipids.

Congenital Syphilis Simulating Bone Neoplasm in 2-Month Old Infant – Case Report

2017 ◽  
Vol 2 (1) ◽  
Keyword(s):  
Case Report ◽  
Congenital Syphilis ◽  
Eosinophilic Granuloma ◽  
Osteolytic Lesion ◽  
Lower Limbs ◽  
Upper Body ◽  
Elective Cesarean Section ◽  
Distal Fibula ◽  
X Ray

Introduction: Congenital Syphilis (CS) occurs through the transplacental transmission of Treponema pallidum in inadequately treated or non-treated pregnant women, and is capable of severe consequences such as miscarriage, preterm birth, congenital disease and/or neonatal death. CS has been showing an increasing incidence worldwide, with an increase of 208% from 2009 to 2015 in Brazil. Case report: 2-month old infant receives care in emergency service due to edema of right lower limb with pain in mobilization. X-ray with osteolytic lesion in distal fibula. Infant was sent to the Pediatrics Oncology clinic. Perinatal data: 7 prenatal appointments, negative serology at 10 and 30 weeks of gestation. End of pregnancy tests were not examined and tests for mother’s hospital admission were not requested. Mother undergone elective cesarean section at 38 weeks without complications. During the pediatric oncologist appointment, patient showed erythematous-squamous lesions in neck and other scar-like lesions in upper body. A new X-ray of lower limbs showed lesions in right fibula with periosteal reaction associated with aggressive osteolytic lesion compromising distal diaphysis, with cortical bone rupture and signs of pathological fracture, suggestive of eosinophilic granuloma. She was hospitalized for a lesion biopsy. Laboratory tests: hematocrit: 23.1 / hemoglobin 7.7 / leukocytes 10,130 (without left deviation) / platelets 638,000 / Negative Cytomegalovirus IgG and IgM and Toxoplasmosis IgG and IgM / VDRL 1:128. Congenital syphilis diagnosis with skin lesions, bone alterations and anemia. Lumbar puncture: glucose 55 / total proteins 26 / VDRL non reagent / 13 leukocytes (8% neutrophils; 84% monomorphonuclear; 8% macrophages) and 160 erythrocytes / negative VDRL and culture. X-ray of other long bones, ophthalmological evaluation and abdominal ultrasound without alterations. Patient was hospitalized for 14 days for treatment with Ceftriaxone 100mg/kg/day, due to the lack of Crystalline Penicillin in the hospital. She is now under outpatient follow-up. Discussion: CS is responsible for high rates of morbidity and mortality. The ongoing increase of cases of this pathology reflects a severe health issue and indicates failures in policies for the prevention of sexually transmitted diseases, with inadequate follow-up of prenatal and maternity protocols.

SUBLINGUAL VITAMIN D3 DRUG THERAPY IN VITAMIN D DEFICIENCY PATIENTS AT PRAVARA RURAL HOSPITAL

2019 ◽  
pp. 18-20
Author(s):  
Sanjeeva Kumar Goud T ◽  
Rahul Kunkulol
Keyword(s):  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Vitamin D3 ◽  
Serum Vitamin ◽  
Cross Sectional ◽  
Serum Vitamin D ◽  
Significant Difference ◽  
Before And After

The present study was aimed to study the effect of Sublingual Vitamin D3 on Serum Vitamin D level in Vitamin D deficiency patients. This was a cross-sectional and interventional study. All the Vitamin D deficiency patients of age 18-60years and either gender, willing to participate in the study were included. Patients who had greater than 20 ng/ml were excluded from the study. The total number of participants in our study was 200, out of these 111 males and 89 females, the mean age in our study was 51.07 ± 7.39Yrs. All volunteers were given sublingual vitamin D3 (60,000IU) in six doses every fifteen days of follow up for 3 months. The subject’s serum 25(OH)D levels were estimated before and after the treatment of sublingual vitamin D3. There was a statistically significant difference in serum vitamin D3 level before 16.61±6.71 ng/ml and after 35.80±7.80 ng/ml after treatment with Sublingual Vitamin D3. Six doses of 60,000IU of Vitamin D3 sublingual route having improved the role of serum 25(OH)D levels in the treatment of Vitamin D3 deficiency patients.Keywords: Vitamin D3; Sublingual route

scholarly journals The importance of maternal pregnancy vitamin D for offspring bone health: learnings from the MAVIDOS trial

2021 ◽  
Vol 13 ◽  
pp. 1759720X2110069
Author(s):  
Rebecca J. Moon ◽  
Elizabeth M. Curtis ◽  
Stephen J. Woolford ◽  
Shanze Ashai ◽  
Cyrus Cooper ◽  
...  
Keyword(s):  
Vitamin D ◽  
Bone Development ◽  
Controlled Trial ◽  
Clinical Care ◽  
Later Life ◽  
Vitamin D Supplementation ◽  
Public Health Policies ◽  
Positive Effects

Optimisation of skeletal mineralisation in childhood is important to reduce childhood fracture and the long-term risk of osteoporosis and fracture in later life. One approach to achieving this is antenatal vitamin D supplementation. The Maternal Vitamin D Osteoporosis Study is a randomised placebo-controlled trial, the aim of which was to assess the effect of antenatal vitamin D supplementation (1000 IU/day cholecalciferol) on offspring bone mass at birth. The study has since extended the follow up into childhood and diversified to assess demographic, lifestyle and genetic factors that determine the biochemical response to antenatal vitamin D supplementation, and to understand the mechanisms underpinning the effects of vitamin D supplementation on offspring bone development, including epigenetics. The demonstration of positive effects of maternal pregnancy vitamin D supplementation on offspring bone development and the delineation of underlying biological mechanisms inform clinical care and future public-health policies.

Vitamin D Level Stability in Dystrophinopathy Patients on Vitamin D Supplementation

2021 ◽  
pp. 1-7
Author(s):  
Naomi Vather-Wu ◽  
Matthew D. Krasowski ◽  
Katherine D. Mathews ◽  
Amal Shibli-Rahhal
Keyword(s):  
Vitamin D ◽  
Retrospective Cohort ◽  
Vitamin D Supplementation ◽  
Hydroxyvitamin D ◽  
Frequent Monitoring ◽  
25 Hydroxyvitamin D ◽  
The Mean ◽  
Stable Maintenance ◽  
Mean Time

Background: Expert guidelines recommend annual monitoring of 25-hydroxyvitamin D (25-OHD) and maintaining 25-OHD ≥30 ng/ml in patients with dystrophinopathies. Objective: We hypothesized that 25-OHD remains stable and requires less frequent monitoring in patients taking stable maintenance doses of vitamin D. Methods: We performed a retrospective cohort study, using the electronic health record to identify 26 patients with dystrophinopathies with a baseline 25-OHD ≥30 ng/mL and at least one additional 25-OHD measurement. These patients had received a stable dose of vitamin D for ≥3 months prior to their baseline 25-OHD measurement and throughout follow-up. The main outcome measured was the mean duration time the subjects spent with a 25-OHD ≥30 ng/mL. Results: Only 19% of patients dropped their 25-OHD to <  30 ng/ml, with a mean time to drop of 33 months and a median nadir 25-OHD of 28 ng/mL. Conclusions: These results suggest that measurement of 25-OHD every 2–2.5 years may be sufficient in patients with a baseline 25-OHD ≥30 ng/mL and who are on a stable maintenance dose of vitamin D. Other patients may require more frequent assessments.

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