The document discusses the causes and presentation of rickets. The main causes are vitamin D disorders, calcium deficiency, phosphorus deficiency, renal losses, and distal renal tubular acidosis. Clinical features include bone deformities, softening of the skull, and leg pain. Diagnosis involves physical exam, x-rays showing bone changes, and lab tests showing abnormalities in calcium, phosphorus, vitamin D, and parathyroid hormone levels. Nutritional vitamin D deficiency is the most common cause globally. Treatment involves vitamin D, calcium, and phosphorus supplementation.
This presentation reviews the historical and prospective studies demonstrating the causation of carpel tunnel syndrome in non-workers, workers and individuals with trauma i.e. fractures. It utilizes evidence based information for the medical causation analysis
This is a short presentation on common causes of shoulder pain, its clinical features,diagnostic methods and treatment modalities. This presentation would be helpful for general paractioners, orthopedic juniour registrars.
Rickets - Bony manifestation of altered Vit. D, Calcium, and phosphorus metabolism
- Rickets – child;
- Osteomalacia – adult form
there is an inability to mineralize chondroid and osteoid
- lack of available calcium or phosphorus (or both) for mineralization of newly formed osteoid
- osseous changes in both adults and children
--- Definition - a defect in mineralization of osteoid matrix caused by inadequate calcium and phosphate deposition prior to closure of physis.
- Clinical features arise from un-mineralized matrix at the growth plate.
- less mineralized bone per unit volume of bone
- classic changes of rickets will typically occur in children younger than 6-7 years of age
-- Pathophysiology of Rickets
- Vitamin D => increase the absorption of calcium from intestine
PTH => mobilizes calcium from bone and increases urinary excretion of phosphate
Calcitonin => inhibits bone resorption
CLINICAL FEATURES
Head:
Craniotabes — softening of cranial bones. also seen in osteogenesis imperfect, hydrocephalus and syphilis
Frontal bossing
Delayed dentition and tooth caries
Delayed closure of fontanel
Craniosynostosis.
Chest
Rachitic rosary — widening of osteochondral junction
Harrison’s groove — occurs due to pulling of softened ribs in inspiration by diaphragm. Softened ribs also predispose to atelectasis and pneumonia because of decreased air entry
Pectus carinatum (pigeon breast)
Spine
Scoliosis (uncommon)
Kyphosis (rachitic cat back)
Accentuation of lumbar lordosis
Limbs and Joints
Bone pain and tenderness
Coxa vara
Genu valgum or varum
Windswept deformity
Bowing of tibia, femur, radius and ulna
Widening of wrist, elbow, knee and ankle because of enlargement of ends of long bones
Rachitic saber shins
Sausage like enlargement of ends of phalanges and metacarpals, with regular constrictions corresponding of the joints string of pearls deformity
Double malleoli sign
General
Failure to thrive
Protuberant abdomen
Apathy, listlessness and irritability
Proximal muscle weakness
Ligament laxity
Symptoms of hypocalcemia—tetany, seizures and stridor due to laryngeal spasm
Bilateral lamellar cataract (Vitamin D deficiency in early infancy).
RADIOLOGICAL SIGNS
Generalized osteopenia
Bowing deformities of the long bones, femur and tibia
Widening of the growth plate
Cupping or flaring of the metaphysis
Radiographic findings in vitamin D resistant rickets
similar to those in infantile rickets
Bowing deformities and shortening of the long bones => more pronounced in early rickets
More common in distal ends of radius and ulna (more so in ulna)
Changes in the shaft appear a few weeks later than metaphysis.
The epiphysis is cloudy and indistinct and periosteum is thick.
The shaft shows diffuse rarefaction, thin cortices with coarse texture of spongiosa.
Umbau zones (Looser’s zones) => sharply defined radiolucent transverse zones
-- Findings of healing rickets:
Earliest finding => reappearance of the provisional zone of calcification, which gradually thickens
detailed vitamin d synthesis and mechanism explained. pathophysiology of rickets explained. appropriate latest treatment guidelines given from uptodate. very nice given in uptodate and source from internate. ppt prepared by Dr sachin wagh junior resident in pediatrics MGM medical college & hospital aurangabad maharashtra
Blood Group Selection in Newborn Transfusion - Dr Padmesh - NeonatologyDr Padmesh Vadakepat
Before transfusing blood in a newborn, we have to understand the basic physiology and unique features of newborn blood groups. This presentation aims to simplify the same.
micro teaching on communication m.sc nursing.pdfAnurag Sharma
Microteaching is a unique model of practice teaching. It is a viable instrument for the. desired change in the teaching behavior or the behavior potential which, in specified types of real. classroom situations, tends to facilitate the achievement of specified types of objectives.
Flu Vaccine Alert in Bangalore Karnatakaaddon Scans
As flu season approaches, health officials in Bangalore, Karnataka, are urging residents to get their flu vaccinations. The seasonal flu, while common, can lead to severe health complications, particularly for vulnerable populations such as young children, the elderly, and those with underlying health conditions.
Dr. Vidisha Kumari, a leading epidemiologist in Bangalore, emphasizes the importance of getting vaccinated. "The flu vaccine is our best defense against the influenza virus. It not only protects individuals but also helps prevent the spread of the virus in our communities," he says.
This year, the flu season is expected to coincide with a potential increase in other respiratory illnesses. The Karnataka Health Department has launched an awareness campaign highlighting the significance of flu vaccinations. They have set up multiple vaccination centers across Bangalore, making it convenient for residents to receive their shots.
To encourage widespread vaccination, the government is also collaborating with local schools, workplaces, and community centers to facilitate vaccination drives. Special attention is being given to ensuring that the vaccine is accessible to all, including marginalized communities who may have limited access to healthcare.
Residents are reminded that the flu vaccine is safe and effective. Common side effects are mild and may include soreness at the injection site, mild fever, or muscle aches. These side effects are generally short-lived and far less severe than the flu itself.
Healthcare providers are also stressing the importance of continuing COVID-19 precautions. Wearing masks, practicing good hand hygiene, and maintaining social distancing are still crucial, especially in crowded places.
Protect yourself and your loved ones by getting vaccinated. Together, we can help keep Bangalore healthy and safe this flu season. For more information on vaccination centers and schedules, residents can visit the Karnataka Health Department’s official website or follow their social media pages.
Stay informed, stay safe, and get your flu shot today!
The prostate is an exocrine gland of the male mammalian reproductive system
It is a walnut-sized gland that forms part of the male reproductive system and is located in front of the rectum and just below the urinary bladder
Function is to store and secrete a clear, slightly alkaline fluid that constitutes 10-30% of the volume of the seminal fluid that along with the spermatozoa, constitutes semen
A healthy human prostate measures (4cm-vertical, by 3cm-horizontal, 2cm ant-post ).
It surrounds the urethra just below the urinary bladder. It has anterior, median, posterior and two lateral lobes
It’s work is regulated by androgens which are responsible for male sex characteristics
Generalised disease of the prostate due to hormonal derangement which leads to non malignant enlargement of the gland (increase in the number of epithelial cells and stromal tissue)to cause compression of the urethra leading to symptoms (LUTS
New Directions in Targeted Therapeutic Approaches for Older Adults With Mantl...i3 Health
i3 Health is pleased to make the speaker slides from this activity available for use as a non-accredited self-study or teaching resource.
This slide deck presented by Dr. Kami Maddocks, Professor-Clinical in the Division of Hematology and
Associate Division Director for Ambulatory Operations
The Ohio State University Comprehensive Cancer Center, will provide insight into new directions in targeted therapeutic approaches for older adults with mantle cell lymphoma.
STATEMENT OF NEED
Mantle cell lymphoma (MCL) is a rare, aggressive B-cell non-Hodgkin lymphoma (NHL) accounting for 5% to 7% of all lymphomas. Its prognosis ranges from indolent disease that does not require treatment for years to very aggressive disease, which is associated with poor survival (Silkenstedt et al, 2021). Typically, MCL is diagnosed at advanced stage and in older patients who cannot tolerate intensive therapy (NCCN, 2022). Although recent advances have slightly increased remission rates, recurrence and relapse remain very common, leading to a median overall survival between 3 and 6 years (LLS, 2021). Though there are several effective options, progress is still needed towards establishing an accepted frontline approach for MCL (Castellino et al, 2022). Treatment selection and management of MCL are complicated by the heterogeneity of prognosis, advanced age and comorbidities of patients, and lack of an established standard approach for treatment, making it vital that clinicians be familiar with the latest research and advances in this area. In this activity chaired by Michael Wang, MD, Professor in the Department of Lymphoma & Myeloma at MD Anderson Cancer Center, expert faculty will discuss prognostic factors informing treatment, the promising results of recent trials in new therapeutic approaches, and the implications of treatment resistance in therapeutic selection for MCL.
Target Audience
Hematology/oncology fellows, attending faculty, and other health care professionals involved in the treatment of patients with mantle cell lymphoma (MCL).
Learning Objectives
1.) Identify clinical and biological prognostic factors that can guide treatment decision making for older adults with MCL
2.) Evaluate emerging data on targeted therapeutic approaches for treatment-naive and relapsed/refractory MCL and their applicability to older adults
3.) Assess mechanisms of resistance to targeted therapies for MCL and their implications for treatment selection
Anti ulcer drugs and their Advance pharmacology ||
Anti-ulcer drugs are medications used to prevent and treat ulcers in the stomach and upper part of the small intestine (duodenal ulcers). These ulcers are often caused by an imbalance between stomach acid and the mucosal lining, which protects the stomach lining.
||Scope: Overview of various classes of anti-ulcer drugs, their mechanisms of action, indications, side effects, and clinical considerations.
Report Back from SGO 2024: What’s the Latest in Cervical Cancer?bkling
Are you curious about what’s new in cervical cancer research or unsure what the findings mean? Join Dr. Emily Ko, a gynecologic oncologist at Penn Medicine, to learn about the latest updates from the Society of Gynecologic Oncology (SGO) 2024 Annual Meeting on Women’s Cancer. Dr. Ko will discuss what the research presented at the conference means for you and answer your questions about the new developments.
Lung Cancer: Artificial Intelligence, Synergetics, Complex System Analysis, S...Oleg Kshivets
RESULTS: Overall life span (LS) was 2252.1±1742.5 days and cumulative 5-year survival (5YS) reached 73.2%, 10 years – 64.8%, 20 years – 42.5%. 513 LCP lived more than 5 years (LS=3124.6±1525.6 days), 148 LCP – more than 10 years (LS=5054.4±1504.1 days).199 LCP died because of LC (LS=562.7±374.5 days). 5YS of LCP after bi/lobectomies was significantly superior in comparison with LCP after pneumonectomies (78.1% vs.63.7%, P=0.00001 by log-rank test). AT significantly improved 5YS (66.3% vs. 34.8%) (P=0.00000 by log-rank test) only for LCP with N1-2. Cox modeling displayed that 5YS of LCP significantly depended on: phase transition (PT) early-invasive LC in terms of synergetics, PT N0—N12, cell ratio factors (ratio between cancer cells- CC and blood cells subpopulations), G1-3, histology, glucose, AT, blood cell circuit, prothrombin index, heparin tolerance, recalcification time (P=0.000-0.038). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and PT early-invasive LC (rank=1), PT N0—N12 (rank=2), thrombocytes/CC (3), erythrocytes/CC (4), eosinophils/CC (5), healthy cells/CC (6), lymphocytes/CC (7), segmented neutrophils/CC (8), stick neutrophils/CC (9), monocytes/CC (10); leucocytes/CC (11). Correct prediction of 5YS was 100% by neural networks computing (area under ROC curve=1.0; error=0.0).
CONCLUSIONS: 5YS of LCP after radical procedures significantly depended on: 1) PT early-invasive cancer; 2) PT N0--N12; 3) cell ratio factors; 4) blood cell circuit; 5) biochemical factors; 6) hemostasis system; 7) AT; 8) LC characteristics; 9) LC cell dynamics; 10) surgery type: lobectomy/pneumonectomy; 11) anthropometric data. Optimal diagnosis and treatment strategies for LC are: 1) screening and early detection of LC; 2) availability of experienced thoracic surgeons because of complexity of radical procedures; 3) aggressive en block surgery and adequate lymph node dissection for completeness; 4) precise prediction; 5) adjuvant chemoimmunoradiotherapy for LCP with unfavorable prognosis.
Factory Supply Best Quality Pmk Oil CAS 28578–16–7 PMK Powder in Stockrebeccabio
Factory Supply Best Quality Pmk Oil CAS 28578–16–7 PMK Powder in Stock
Telegram: bmksupplier
signal: +85264872720
threema: TUD4A6YC
You can contact me on Telegram or Threema
Communicate promptly and reply
Free of customs clearance, Double Clearance 100% pass delivery to USA, Canada, Spain, Germany, Netherland, Poland, Italy, Sweden, UK, Czech Republic, Australia, Mexico, Russia, Ukraine, Kazakhstan.Door to door service
Hot Selling Organic intermediates
Title: Sense of Taste
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the structure and function of taste buds.
Describe the relationship between the taste threshold and taste index of common substances.
Explain the chemical basis and signal transduction of taste perception for each type of primary taste sensation.
Recognize different abnormalities of taste perception and their causes.
Key Topics:
Significance of Taste Sensation:
Differentiation between pleasant and harmful food
Influence on behavior
Selection of food based on metabolic needs
Receptors of Taste:
Taste buds on the tongue
Influence of sense of smell, texture of food, and pain stimulation (e.g., by pepper)
Primary and Secondary Taste Sensations:
Primary taste sensations: Sweet, Sour, Salty, Bitter, Umami
Chemical basis and signal transduction mechanisms for each taste
Taste Threshold and Index:
Taste threshold values for Sweet (sucrose), Salty (NaCl), Sour (HCl), and Bitter (Quinine)
Taste index relationship: Inversely proportional to taste threshold
Taste Blindness:
Inability to taste certain substances, particularly thiourea compounds
Example: Phenylthiocarbamide
Structure and Function of Taste Buds:
Composition: Epithelial cells, Sustentacular/Supporting cells, Taste cells, Basal cells
Features: Taste pores, Taste hairs/microvilli, and Taste nerve fibers
Location of Taste Buds:
Found in papillae of the tongue (Fungiform, Circumvallate, Foliate)
Also present on the palate, tonsillar pillars, epiglottis, and proximal esophagus
Mechanism of Taste Stimulation:
Interaction of taste substances with receptors on microvilli
Signal transduction pathways for Umami, Sweet, Bitter, Sour, and Salty tastes
Taste Sensitivity and Adaptation:
Decrease in sensitivity with age
Rapid adaptation of taste sensation
Role of Saliva in Taste:
Dissolution of tastants to reach receptors
Washing away the stimulus
Taste Preferences and Aversions:
Mechanisms behind taste preference and aversion
Influence of receptors and neural pathways
Impact of Sensory Nerve Damage:
Degeneration of taste buds if the sensory nerve fiber is cut
Abnormalities of Taste Detection:
Conditions: Ageusia, Hypogeusia, Dysgeusia (parageusia)
Causes: Nerve damage, neurological disorders, infections, poor oral hygiene, adverse drug effects, deficiencies, aging, tobacco use, altered neurotransmitter levels
Neurotransmitters and Taste Threshold:
Effects of serotonin (5-HT) and norepinephrine (NE) on taste sensitivity
Supertasters:
25% of the population with heightened sensitivity to taste, especially bitterness
Increased number of fungiform papillae
These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
Tom Selleck Health: A Comprehensive Look at the Iconic Actor’s Wellness Journeygreendigital
Tom Selleck, an enduring figure in Hollywood. has captivated audiences for decades with his rugged charm, iconic moustache. and memorable roles in television and film. From his breakout role as Thomas Magnum in Magnum P.I. to his current portrayal of Frank Reagan in Blue Bloods. Selleck's career has spanned over 50 years. But beyond his professional achievements. fans have often been curious about Tom Selleck Health. especially as he has aged in the public eye.
Follow us on: Pinterest
Introduction
Many have been interested in Tom Selleck health. not only because of his enduring presence on screen but also because of the challenges. and lifestyle choices he has faced and made over the years. This article delves into the various aspects of Tom Selleck health. exploring his fitness regimen, diet, mental health. and the challenges he has encountered as he ages. We'll look at how he maintains his well-being. the health issues he has faced, and his approach to ageing .
Early Life and Career
Childhood and Athletic Beginnings
Tom Selleck was born on January 29, 1945, in Detroit, Michigan, and grew up in Sherman Oaks, California. From an early age, he was involved in sports, particularly basketball. which played a significant role in his physical development. His athletic pursuits continued into college. where he attended the University of Southern California (USC) on a basketball scholarship. This early involvement in sports laid a strong foundation for his physical health and disciplined lifestyle.
Transition to Acting
Selleck's transition from an athlete to an actor came with its physical demands. His first significant role in "Magnum P.I." required him to perform various stunts and maintain a fit appearance. This role, which he played from 1980 to 1988. necessitated a rigorous fitness routine to meet the show's demands. setting the stage for his long-term commitment to health and wellness.
Fitness Regimen
Workout Routine
Tom Selleck health and fitness regimen has evolved. adapting to his changing roles and age. During his "Magnum, P.I." days. Selleck's workouts were intense and focused on building and maintaining muscle mass. His routine included weightlifting, cardiovascular exercises. and specific training for the stunts he performed on the show.
Selleck adjusted his fitness routine as he aged to suit his body's needs. Today, his workouts focus on maintaining flexibility, strength, and cardiovascular health. He incorporates low-impact exercises such as swimming, walking, and light weightlifting. This balanced approach helps him stay fit without putting undue strain on his joints and muscles.
Importance of Flexibility and Mobility
In recent years, Selleck has emphasized the importance of flexibility and mobility in his fitness regimen. Understanding the natural decline in muscle mass and joint flexibility with age. he includes stretching and yoga in his routine. These practices help prevent injuries, improve posture, and maintain mobilit
3. • CAUSES OF RICKETS:
• 1. VITAMIN D DISORDERS
• 2. CALCIUM DEFICIENCY
• 3. PHOSPHORUS DEFICIENCY
• 4. RENAL LOSSES
• 5. DISTAL RTA
Nutritional Vit D deficiency
Congenital Vit D deficiency
Secondary Vit D deficiency
-Malabsorption
-Increased degradation
-Decreased liver 25-hydroxylase
Vit D–dependent rickets type 1
Vit D–dependent rickets type 2
Chronic renal failure
8. • DIAGNOSIS OF RICKETS:
• HISTORY
• PHYSICAL FINDINGS
• RADIOGRAPHICAL CHANGES
• LAB TESTS
9. • Clinical Evaluation.
• HISTORY REGARDING:
• 1.Diet intake of Vit D, Calcium
• 2.Sun exposure
• 3.Maternal risk factors for vit D deficiency.
• 4.Child's medication history.
• 5.History of liver or intestinal disease – malabsorption of vit D
• 6.History of Renal disease
• 7.Family history of bone disease, short stature, unexplained sibling
death.
• 8.History of dental caries, poor growth, delayed walking, waddling
gait, pneumonia, and hypocalcemic symptoms.
12. • CLINICAL FEATURES:
• CHEST
• Rachitic rosary
• Harrison groove
• Respiratory infections and atelectasis
• BACK
• Scoliosis
• Kyphosis
• Lordosis
13. • CLINICAL FEATURES:
• EXTREMITIES
• Enlargement of wrists and ankles
• Valgus or varus deformities
• Anterior bowing of the tibia and femur
• Coxa vara
• Leg pain
14. • CLINICAL FEATURES:
• EXTREMITIES
• Enlargement of wrists and ankles
• Valgus or varus deformities
• Anterior bowing of the tibia and femur
• Coxa vara
• Leg pain
15. • CLINICAL FEATURES:
• EXTREMITIES
• Enlargement of wrists and ankles
• Valgus or varus deformities
• Anterior bowing of the tibia and femur
• Coxa vara
• Leg pain
16. • CLINICAL FEATURES:
• EXTREMITIES
• Enlargement of wrists and ankles
• Valgus or varus deformities
• Anterior bowing of the tibia and femur
• Coxa vara
• Leg pain
17. • CLINICAL FEATURES:
• EXTREMITIES
• Valgus or varus deformities
• Windswept deformity
(combination of valgus deformity
of 1 leg with varus deformity of
the other leg)
• Anterior bowing of the tibia and femur
• Coxa vara
18. • CLINICAL FEATURES:
• HYPOCALCEMIC SYMPTOMS:
• Tetany
• Seizures
• Stridor due to laryngeal spasm
19. • CLINICAL FEATURES:
• Craniotabes:
• Softening of cranial bones.
• Detected by applying pressure at the occiput or parietal bones.
20. • CLINICAL FEATURES:
• Craniotabes:
• Craniotabes may also be secondary to
-osteogenesis imperfecta,
-hydrocephalus,
-syphilis.
• May be a normal finding in many newborns, especially near the
suture lines, but disappears within a few months of birth.
21. • CLINICAL FEATURES:
• Rachitic Rosary:
• Widening of costochondral junctions Rachitic rosary.
• Feels like beads of a rosary as the examiner's fingers move along the
costochondral junctions from rib to rib.
• Growth plate widening:
• This is also responsible for the enlargement at wrists and ankles.
23. • CLINICAL FEATURES:
• Harrison groove:
• Horizontal depression along lower anterior chest.
• Due to pulling of softened ribs by diaphragm during inspiration.
• Softening of ribs impairs air movement & predisposes to
atelectasis.
• Risk of pneumonia high in children with rickets
24. • RADIOLOGY:
• Decreased calcification Thickening of growth plate.
• FRAYING: Edge of metaphysis loses its sharp border.
• CUPPING: Edge of metaphysis changes from convex or flat to concave
surface. Most easily seen at distal ends of radius, ulna, fibula.
• Widening of distal end of metaphysis Clinically causes thickened
wrists and ankles, and rachitic rosary.
25. • RADIOLOGY:
• Especially on PA view of wrist. Also in other growth plates.
• Other radiologic features:
-Coarse trabeculation of diaphysis -Generalized rarefaction.
29. • Urinalysis: Useful for detecting glycosuria and aminoaciduria
(positive dipstick for protein) in Fanconi syndrome.
• Evaluation of urinary excretion of calcium (24 hr collection for
calcium or calcium-creatinine ratio) : If hereditary hypophosphatemic
rickets with hypercalciuria or Fanconi syndrome is suspected.
• Direct measurement of other fat-soluble vitamins (A, E, and K) or
indirect assessment of deficiency (prothrombin time for vitamin K
deficiency) : if malabsorption is a consideration.
32. • VITAMIN D:
7-DEHYDROCHOLESTEROL
UV radiation in sunlight Inhibited by melanin
VITAMIN D3
Bound to Vit D binding protein Transported to liver
25-Hydroxylase
25-D
1 α Hydroxylase Kidney
1,25 D
Binds to intracellular receptor
and forms a COMPLEX
CALCIUM PHOSPHORUS BONE PTH secrn Inhibits its own
absorption absorption resorption synthesis in kidney
34. • NUTRITIONAL VIT D DEFICIENCY:
• Most common cause of rickets globally.
• Etiology:
• Most common in infancy: Due to poor intake + inadequate cutaneous
synthesis.
• Transplacental transport of vitamin D, mostly 25-D,provides vitamin D
for 1st 2 mo of life unless there is severe maternal vitamin D
deficiency.
• Breast-fed infants, because of low vitamin D content of breast milk,
rely on cutaneous synthesis or vitamin supplements.
• Infants who receive formula receive adequate vitamin D, even
without cutaneous synthesis.
35. • NUTRITIONAL VIT D DEFICIENCY:
• Most common cause of rickets globally.
• Etiology:
• Cutaneous synthesis is limited by ineffective winter sun; and by
increased skin pigmentation.
• Mothers may have same risk factors decreased maternal vitamin D
reduced vitamin D in breast milk + less transplacental delivery of
vitamin D.
• Unconventional dietary practices, such as vegan diets that use
unfortified soy milk or rice milk.
36. • NUTRITIONAL VIT D DEFICIENCY:
• Laboratory Findings.
• Elevated PTH Hypophosphatemia
• Variable hypocalcemia
• Hypophosphatemia & hyperparathyroidism Upregulation of renal
1α-hydroxylase Wide variation in 1,25-D levels (low, normal, or
high)
• 1,25-D is only low when there is severe vitamin D deficiency.
• Some have metabolic acidosis secondary to PTH-induced renal
bicarbonate-wasting.
• There may be generalized aminoaciduria.
37. • VITAMIN D:
7-DEHYDROCHOLESTEROL
UV radiation in sunlight Inhibited by melanin
VITAMIN D3
Bound to Vit D binding protein Transported to liver
25-Hydroxylase
25-D
1 α Hydroxylase Kidney
1,25 D
Binds to intracellular receptor
and forms a COMPLEX
CALCIUM PHOSPHORUS BONE PTH secrn Inhibits its own
absorption absorption resorption synthesis in kidney
38. • NUTRITIONAL VIT D DEFICIENCY:
• DIAGNOSIS:
• History of poor vitamin D intake & risk factors for decreased
cutaneous synthesis.
• Radiographic changes consistent with rickets, and
• Laboratory findings.
• Normal PTH level almost never occurs with vitamin D deficiency and
suggests a primary phosphate disorder.
• Calcium deficiency may occur with or without vitamin D deficiency.
• A normal level of 25-D and a dietary history of poor calcium intake
support a diagnosis of isolated calcium deficiency.
39. • NUTRITIONAL VIT D DEFICIENCY:
• Treatment:
• Vitamin D + Calcium + Phosphorus.
• 2 strategies for vitamin D admn:
• Stoss therapy: 300,000–600,000 IU of vitamin D oral or IM as 2–4
doses over 1 day.
• Because doses are observed, stoss therapy is ideal where adherence to therapy is questionable.
• Alternative: Daily, high-dose vitamin D, with doses ranging from
2,000–5,000 IU/day over 4–6 wk.
• Either strategy should be followed by daily vitamin D intake of 400
IU/day, typically given as a multivitamin.
• Ensure adequate dietary calcium & phosphorus;
(milk, formula, and other dairy products)
40. • NUTRITIONAL VIT D DEFICIENCY:
• Treatment:
• Symptomatic hypocalcemia: IV Calcium acutely, followed by oral
calcium supplements, tapered over 2–6 wk in children who receive
adequate dietary calcium.
• Transient use of intravenous or oral 1,25-D (calcitriol) to reverse
hypocalcemia in acute phase.
(by providing active vitamin D during the delay as supplemental vitamin D is converted to
active vitamin D. )
41. • NUTRITIONAL VIT D DEFICIENCY:
• Prognosis.
• Most: Excellent response to treatment.
• Radiologic healing within a few months.
• Laboratory tests normalize rapidly.
• Many of the bone malformations improve dramatically, but children
with severe disease may have permanent deformities.
• Short stature does not resolve in some children.
• Prevention.
• Universal administration of daily multivitamin containing 200–400 IU
of vitamin D to children who are breast-fed.
• For other children, diet should have sources of vitamin D.
42. • CONGENITAL VIT D DEFICIENCY:
• Occurs if severe maternal vitamin D deficiency during pregnancy.
• Maternal risk factors:
-Poor dietary intake of vitamin D,
-Lack of adequate sun exposure, and
-Closely spaced pregnancies.
43. • CONGENITAL VIT D DEFICIENCY:
• Newborns may have:
-symptomatic hypocalcemia,
-intrauterine growth retardation,
-decreased bone ossification, and
-classic rachitic changes.
• Subtler maternal vitamin D deficiency:
-adverse effect on neonatal bone density
-adverse effect on birthweight,
-defect in dental enamel, and
-predispose to neonatal hypocalcemic tetany.
44. • CONGENITAL VIT D DEFICIENCY:
• Treatment of congenital rickets:
-Vitamin D supplementation
-Adequate intake of Calcium and Phosphorus.
• Prevention:
-Use of prenatal vitamins containing vitamin D.
45. • SECONDARY VIT D DEFICIENCY:
• Etiology.
-inadequate intake,
-inadequate absorption,
-decreased hydroxylation in liver, and
-increased degradation.
46. • SECONDARY VIT D DEFICIENCY:
• Etiology.
-inadequate intake,
-inadequate absorption,
-decreased hydroxylation in liver &
-increased degradation.
Liver & gastrointestinal
diseases:
-Cholestatic liver disease,
-Defects in bile acid metabolism
-Cystic fibrosis
-Other causes of pancreatic
dysfunction,
-Celiac disease,
-Crohn disease.
-Intestinal lymphangiectasia
-After intestinal resection.
47. • SECONDARY VIT D DEFICIENCY:
• Etiology.
-inadequate intake,
-inadequate absorption,
-decreased hydroxylation in liver
-increased degradation.
Severe Liver disease:
-Insufficient enzyme axn
(25 hydroxylase)
48. • SECONDARY VIT D DEFICIENCY:
• Etiology.
-inadequate intake,
-inadequate absorption,
-decreased hydroxylation in liver &
-increased degradation.
-Drugs by inducing P450
-Anticonvulsants: Phenobarb,
Phenytoin.
-ATT : Isoniazid,
Rifampin
49. • SECONDARY VIT D DEFICIENCY:
• Treatment.
• 1. Malabsorption:
• Requires high doses of vitamin D.
• 25-D (25–50 μmg/day or 5–7 μmg/kg/day)-Better absorption - superior to vitamin D3.
• Alternatively:
• 1,25-D (also better absorbed in presence of fat malabsorption) or
• Parenteral vitamin D.
• 2. In rickets due to increased degradation of Vit D by P450 system:
Require same acute therapy as for nutritional deficiency,
followed by
Long-term administration of high doses of Vit D (e.g., 1,000 IU/day),
(With dosing titrated based on serum levels of 25-D)
Some patients require as much as 4,000 IU/day.
50. • VITAMIN D–DEPENDENT RICKETS, TYPE 1.
• Autosomal Recessive.
• Mutations in gene encoding renal 1α-hydroxylase.
• Prevent conversion of 25-D into 1,25-D.
• Normally present during 1st 2 yr of life.
• Can have any features of rickets, including symptomatic
hypocalcemia.
51. • VITAMIN D–DEPENDENT RICKETS, TYPE 1.
• Normal levels of 25-D, but low levels of 1,25-D.
• Occasionally, 1,25-D levels may be low normal.
• High PTH.
• Low serum phosphorus levels.
• Metabolic acidosis & generalized aminoaciduria.
(Due to renal tubular dysfunction)
52. • VITAMIN D:
7-DEHYDROCHOLESTEROL
UV radiation in sunlight Inhibited by melanin
VITAMIN D3
Bound to Vit D binding protein Transported to liver
25-Hydroxylase
25-D
1 α Hydroxylase Kidney
1,25 D
Binds to intracellular receptor
and forms a COMPLEX
CALCIUM PHOSPHORUS BONE PTH secrn
absorption absorption resorption
53. • VITAMIN D–DEPENDENT RICKETS, TYPE 1.
• Normal levels of 25-D, but low levels of 1,25-D.
• Occasionally, 1,25-D levels may be at the lower limit of normal, but
this is inappropriate, given the high PTH and low serum phosphorus
levels, both of which should increase the activity of renal 1α-
hydroxylase and cause elevated levels of 1,25-D.
• As in nutritional vitamin D deficiency, renal tubular dysfunction may
cause a metabolic acidosis and generalized aminoaciduria.
54. • VITAMIN D–DEPENDENT RICKETS, TYPE 1.
• TREATMENT:
• Long-term treatment with 1,25-D (calcitriol).
• Initial: 0.25–2 μmg/day, with lower doses used once the rickets has
healed.
• During initial therapy, ensure adequate intake of calcium.
• Periodic monitoring of urinary calcium excretion,
with target of <4 mg/kg/day.
55. • VITAMIN D–DEPENDENT RICKETS, TYPE 2.
• Autosomal Recessive.
• Mutations in gene encoding the vitamin D receptor.
• Prevents a normal physiologic response to 1,25-D.
• Levels of 1,25-D are extremely elevated.
• Less severe disease is associated with a partially functional vitamin
D receptor.
56. • VITAMIN D–DEPENDENT RICKETS, TYPE 2.
• Most patients present during infancy.
• Less severely affected patients may not be diagnosed until
adulthood.
• 50–70% of children have alopecia.
57. • VITAMIN D–DEPENDENT RICKETS, TYPE 2.
• Treatment.
• Some patients, especially those without alopecia, respond to
extremely high doses of vitamin D2, 25-D, or 1,25-D.
• Due to partially functional vitamin D receptor.
• 3–6 month trial of high-dose vitamin D and oral calcium.
58. • VITAMIN D–DEPENDENT RICKETS, TYPE 2.
• Treatment.
• The initial dose of 1,25-D should be 2 μmg/day, but some patients
require doses as high as 50–60 μmg/day.
• Calcium doses range from 1,000–3,000 mg/day.
59. • CHRONIC RENAL FAILURE:
• Decreased activity of 1α-hydroxylase in kidney diminished
production of 1,25-D.
• In chronic renal failure, unlike the other causes of vitamin D
deficiency, patients have hyperphosphatemia as a result of
decreased renal excretion.
• Along with inadequate calcium absorption and secondary
hyperparathyroidism, the rickets may be worsened by the
metabolic acidosis of chronic renal failure.
60. • VITAMIN D:
7-DEHYDROCHOLESTEROL
UV radiation in sunlight Inhibited by melanin
VITAMIN D3
Bound to Vit D binding protein Transported to liver
25-Hydroxylase
25-D
1 α Hydroxylase Kidney
1,25 D
Binds to intracellular receptor
and forms a COMPLEX
CALCIUM PHOSPHORUS BONE PTH secrn
absorption absorption resorption
61. • CHRONIC RENAL FAILURE:
• Treatment.
• A form of vitamin D which can act without 1-hydroxylation by
kidney should be used for therapy (Calcitriol).
• Calcitriol permits both adequate absorption of calcium and directly
suppresses the parathyroid gland.
• Dietary phosphorus restriction & Oral phosphate binders.
(Because hyperphosphatemia is a stimulus for PTH secretion)
• Chronic metabolic acidosis should be corrected with alkali.
63. • CALCIUM DEFICIENCY:
• CAUSES:
• After weaning / early weaning.
• Low calcium content in diet. (<200 mg/day)
• Grains & green leafy vegetables high in phytate, oxalate, and
phosphate decrease absorption of dietary calcium.
• In children getting IV nutrition without adequate calcium.
• Malabsorption of calcium:
-in celiac disease,
-intestinal abetalipoproteinemia, and
-after small bowel resection.
64. • CALCIUM DEFICIENCY:
• Clinical Manifestations.
• Classic signs and symptoms of rickets.
• Presentation: infancy or early childhood, although some are
diagnosed in teenagers.
• Because calcium deficiency occurs after cessation of breast-feeding,
it tends to occur LATER than nutritional vitamin D deficiency that is
associated with breast-feeding.
65. • CALCIUM DEFICIENCY:
• Diagnosis.
• Laboratory findings:
• Increased levels of Alkaline phosphatase, PTH, and 1,25-D.
• Calcium levels may be normal or low, although symptomatic
hypocalcemia is uncommon.
• Decreased urinary excretion of calcium.
• Secondary hyperparathyroidism Low Serum phosphorus levels.
• In some children, there is coexisting nutritional vitamin D deficiency
Low 25-D.
66. • VITAMIN D:
7-DEHYDROCHOLESTEROL
UV radiation in sunlight Inhibited by melanin
VITAMIN D3
Bound to Vit D binding protein Transported to liver
25-Hydroxylase
25-D
1 α Hydroxylase Kidney
1,25 D
Binds to intracellular receptor
and forms a COMPLEX
CALCIUM PHOSPHORUS BONE PTH secrn Inhibits its own
absorption absorption resorption synthesis in kidney
67. • CALCIUM DEFICIENCY:
• Treatment.
• Calcium supplement (350–1,000 mg/day of elemental calcium).
• Vitamin D supplementation if concurrent vitamin D deficiency.
• Prevention:
-Discourage early cessation of breast-feeding.
-Increase dietary sources of calcium.
69. • INADEQUATE INTAKE.
• Only in starvation or severe anorexia.
• Malabsorption of phosphorus.(celiac disease, cystic
fibrosis, cholestatic liver disease); But rickets is primarily
due to malabsorption of vitamin D and/or calcium.
• Isolated malabsorption of phosphorus: in long-term use of
aluminum-containing antacids.
70. • PHOSPHATONIN.
Phosphatonin (a humoral mediator)
Decreases renal tubular reabsorption Decreases activity of renal
of phosphate 1α-hydroxylase
Increased excretion of Phosphorus Decrease in production of 1,25-D.
Decreases S.phosphorus
• Fibroblast growth factor-23 (FGF-23) is the most well characterized phosphatonin.
71. • X-LINKED HYPOPHOSPHATEMIC RICKETS.
• X-linked hypophosphatemic rickets (XLH) is the most common
genetic cause of Rickets.
• Defective gene is on X chromosome.
• Female carriers are affected, so it is X-linked dominant.
• Pathophysiology.
• Defective gene: ‘PHEX’ (PHosphate-regulating gene with homology
to Endopeptidases on X chromosome)
72. PHEX GENE
Product of this gene
inactivates phosphatonin
Increased Phosphatonin
Decreased Phosphorus
73. • X-LINKED HYPOPHOSPHATEMIC RICKETS.
PHEX GENE
Product of this gene
inactivates phosphatonin
Increased Phosphatonin
Decreased Phosphorus
74. • X-LINKED HYPOPHOSPHATEMIC RICKETS.
• Clinical Manifestations.
• Rickets.
• Abnormalities of lower extremities and poor growth are the
dominant features.
• Short stature
• Delayed dentition, tooth abscesses.
75. • X-LINKED HYPOPHOSPHATEMIC RICKETS.
• Laboratory Findings.
• High renal excretion of phosphate,
• Hypophosphatemia,
• Increased alkaline phosphatase,
• PTH and serum calcium levels are normal.
• Hypophosphatemia normally upregulates renal 1α-
hydroxylase, and should lead to an increase in 1,25-D, but
these patients have low or inappropriately normal levels.
76. • X-LINKED HYPOPHOSPHATEMIC RICKETS.
• Treatment.
• Patients respond well to combination of oral phosphorus
and 1,25-D (calcitriol).
• Daily : 1–3 g of elemental phosphorus divided into 4–5
doses.
• Frequent dosing helps to prevent prolonged decrements in
serum phosphorus because there is a rapid decline after
each dose.
• In addition, frequent dosing decreases diarrhea, a
complication of high-dose oral phosphorus.
• Calcitrol : 30–70 ng/kg/day divided into 2 doses.
77. • X-LINKED HYPOPHOSPHATEMIC RICKETS.
• Complications of treatment occur when there is no balance
between phosphorus supplementation and calcitriol.
• Excess phosphorus decrease enteral calcium absorption
secondary hyperparathyroidism worsening of bone lesions.
• Excess calcitriol hypercalciuria and nephrocalcinosis; it may
even cause hypercalcemia.
• Hence, laboratory monitoring of treatment includes :
Serum calcium, phosphorus, alkaline phosphatase, PTH, and
urinary calcium; Periodic renal ultrasounds to evaluate
nephrocalcinosis.
78. • X-LINKED HYPOPHOSPHATEMIC RICKETS.
• Normalization of alkaline phosphatase levels is a more
useful method of assessing therapeutic response than
measuring serum phosphorus.
• For children with significant short stature, growth hormone
is an effective option.
• Children with severe deformities may need osteotomies,
but done only when treatment has led to resolution of the
bone disease.
79. • AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC
RICKETS.
• Less common than XLH.
• Incomplete penetrance and variable age of onset.
• Mutation in gene encoding FGF-23.
• Mutation prevents degradation of FGF-23 by proteases, leading to
increased levels of this phosphatonin.
• In ADHR, as in XLH, abnormal laboratory findings are
hypophosphatemia, an elevated alkaline phosphatase level, and a low
or inappropriately normal 1,25-D level .
• Treatment is similar as in XLH.
80. • Rickets Associated with Renal Tubular Acidosis :
• Rickets may be present in RTA, particularly in type II or proximal RTA.
• Hypophosphatemia and phosphaturia are common.
(Also characterized by hyperchloremic metabolic acidosis, various
degrees of bicarbonaturia, and frequently, hypercalciuria and
hyperkaluria. )
• Proximal RTA is treated with both bicarbonate and oral phosphate
supplements to heal rickets.
• Vitamin D given to offset the secondary hyperparathyroidism that
complicates oral phosphate therapy.
81. • Rickets Associated with Renal Tubular Acidosis
• Bone demineralization without overt rickets: in type I or distal RTA.
• Bone pain, growth retardation, osteopenia, and, occasionally,
pathologic fractures.
• Bone demineralization in distal RTA probably due to dissolution of
bone because calcium carbonate in bone serves as a buffer against
metabolic acidosis due to hydrogen ions retained in RTA.
• Administration of sufficient bicarbonate to reverse acidosis stops
bone dissolution and the hypercalciuria that is common in distal RTA.
• Following therapy, growth in patients with type II (proximal) RTA is
greater than in patients with primary Fanconi syndrome.
82. • RICKETS OF PREMATURITY :
• Pathogenesis.
• Transfer of calcium and phosphorus from mother to fetus occurs
throughout pregnancy, but 80% occurs during the 3rd trimester.
• Premature birth interrupts this process rickets develop.
• Most cases of rickets of prematurity occur in birthweight <1,000 g.
• More likely to develop in infants with lower birthweight and younger
gestational age.
• Rickets occurs because unsupplemented breast milk and standard
infant formula do not contain enough calcium and phosphorus to
supply the needs of the premature infant.
83. • RICKETS OF PREMATURITY
• Clinical Manifestations.
• Rickets of prematurity presents 1–4 mo after birth.
• Infants may have nontraumatic fractures.
• Fractures & softening of ribs decreased chest compliance
respiratory distress due to atelectasis & poor ventilation.
• Rachitic respiratory distress usually develops >5 weeks after birth,
distinguishing it from the early-onset respiratory disease of
premature infants.
84. • RICKETS OF PREMATURITY
• Clinical Manifestations.
• Poor linear growth.
• Enamel hypoplasia.
• Poor bone mineralization dolichocephaly.
• Classic rachitic findings MAY be present.
• Most infants with rickets of prematurity have no clinical
manifestations, and diagnosis is based on radiographic & lab
findings.
85. • RICKETS OF PREMATURITY
• Laboratory Findings.
• Due to inadequate intake: serum phosphorus level is low or low-
normal.
• Renal conservation of phosphate : Low urine phosphate level;
• Most patients have normal levels of 25-D, unless there has been
inadequate intake or poor absorption .
• Hypophosphatemia stimulates renal 1α-hydroxylase 1,25-D is
high or high-normal. These high levels may contribute to bone
demineralization because 1,25-D stimulates bone resorption.
86. • RICKETS OF PREMATURITY
• Laboratory Findings.
• Serum calcium is low, normal, or high, and patients often have
hypercalciuria.
• Elevated serum calcium levels and hypercalciuria are secondary to:
-increased intestinal absorption and bone dissolution due to
elevation of 1,25-D levels and
-the inability to deposit calcium in bone because of an
inadequate phosphorus supply.
• There is an inadequate supply of calcium and phosphorus, but the
deficiency in phosphorus is greater.
87. • RICKETS OF PREMATURITY
• Laboratory Findings.
• Alkaline phosphatase often elevated, but some have normal levels.
• No single blood test is 100% sensitive for the diagnosis of rickets.
• The diagnosis should be suspected in infants with :
-alkaline phosphatase level more than 5–6 times the upper
limit of normal for adults (unless there is concomitant liver
disease)
or
-phosphorus level <5.6 mg/dL.
88. • RICKETS OF PREMATURITY
• Laboratory Findings.
• Confirmed by radiologic evidence of rickets- best seen on films of1
wrists and ankles.
• Rachitic rosary may be visible on chest x-ray.
• Unfortunately, x-rays are not able to detect early demineralization
of bone because changes are not evident until there is >20–30%
reduction in bone mineral content.
89. • RICKETS OF PREMATURITY
• Diagnosis.
• Screening tests are recommended.
• Weekly measurements of calcium, phosphorus, and alkaline
phosphatase.
• Periodic measurement of serum bicarbonate is important because
metabolic acidosis causes dissolution of bone.
• At least 1 screening x-ray for rickets at 6–8 wk of age; additional
films in very high-risk infants.
90. • RICKETS OF PREMATURITY
• Prevention.
• Adequate amounts of calcium, phosphorus & vitamin D decreases
the risk of rickets of prematurity.
• Parenteral nutrition is often necessary initially in very premature
infants. Current amino acid preparations allow for higher
concentrations of calcium and phosphate.
• Early transition to enteral feedings is also helpful.
• Soy formula should be avoided because there is decreased
bioavailability of calcium and phosphorus.
91. • RICKETS OF PREMATURITY
• Prevention.
• Human milk fortified with calcium & phosphorus or preterm infant
formula, which has higher concentrations of calcium and
phosphorus than standard formula.
• Increased mineral feedings should continue until the infant weighs
3–3.5 kg.
• These infants should also receive approximately 400 IU/day of
vitamin D via formula and vitamin supplements.
• Treatment.
• Ensure adequate calcium, phosphorus, and vitamin D.