Delayed Puberty

Management Team

Delayed Puberty

Overview

Delayed puberty is a condition arising when a child fails to show signs of puberty by the expected age, typically around 13 years in girls and 14 years in boys.

Genetic factors, chronic illnesses, nutritional deficiencies, or hormonal imbalances. Delayed puberty can affect physical development and may lead to emotional and social issues.

Evaluating growth patterns, hormone levels, and family history. In some cases, a bone age assessment and imaging studies are needed.

Depends on causative factors, and can include hormone therapy to stimulate the onset of puberty. Support and counselling can help children cope with the emotional impact of delayed development.

Delayed puberty in most teenagers simply means that they are developing later than usual and will eventually catch up. However, if your child is showing signs of delayed puberty, it is advisable to consult a paediatric endocrinology specialist, a doctor who focuses on treating children and teenagers with growth concerns, to rule out underlying medical conditions and receive appropriate treatment.

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Diabetic Neuropathy

Management Team

Diabetic Neuropathy

Overview

Diabetic neuropathy refers to a condition in which high blood sugar levels lead to nerve damage. It can affect various body parts such as the digestive system, heart, and blood vessels.

Symptoms like pain, tingling, and numbness, often in the legs and feet.

Physical exam, nerve conduction studies, and blood tests to assess blood sugar control.

Treatment for diabetic neuropathy involves managing symptoms and regulating blood sugar levels. Medications, physical therapy, and lifestyle changes can help alleviate pain and enhance the quality of life. Early diagnosis and management are crucial for preventing severe complications and for maintaining nerve function.

The American Diabetes Association suggests starting screening for diabetic neuropathy right after a person is diagnosed with type 2 diabetes or 5 years after being diagnosed with type 1 diabetes. It is advised to have a screening once every year after that.

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Diabetic Retinopathy

Management Team

Diabetic Retinopathy

Overview

Diabetic retinopathy is an eye disorder arising when elevated blood sugar levels cause damage to the blood vessels in the retina. It can result in vision problems and blindness if left untreated.

Blurred vision, dark spots, and difficulty in seeing colours.

Comprehensive eye evaluation, including dilated eye exams and imaging tests.

Depends on the severity and may include laser therapy, injections, or surgery to prevent vision loss. Managing blood sugar levels, cholesterol levels, and blood pressure is the best way to prevent and prolong the progression of diabetic retinopathy. Regular eye exams are crucial for early detection and treatment.

If you have diabetes, make sure to have a yearly eye check-up with dilation, even if your vision appears to be normal. If you experience sudden changes related to your vision, for e.g., blurriness, dark spots, or haziness, please contact your ophthalmologist immediately.

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Diabetic Foot

Management Team

Diabetic Foot

Overview

Diabetic foot refers to complications in the feet of people with diabetes, including infections, ulcers, and poor circulation. These issues arise from high blood sugar levels which result in damaged nerves and blood vessels.

Pain, numbness, and slow-healing sores.

Wound care, antibiotics for infections, and occasionally surgery to remove damaged tissue.

Involves regular foot inspections, use of proper footwear, and management of blood sugar levels.

Regular monitoring and prompt treatment of foot problems are crucial to prevent severe complications like amputations. Education on foot care and diabetes management helps reduce the risk of diabetic foot issues.

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Diabetes Mellitus

Management Team

Diabetes Mellitus

Overview

Diabetes mellitus refers to a long-term condition characterised by elevated levels of blood sugar due to the inability of the body to properly produce or utilise insulin. Insulin plays a critical role in controlling blood sugar by transporting glucose from the bloodstream into cells for energy use. There are two main types: type 1 and type 2 diabetes.

  • Excessive thirst
  • Increased frequency of urination
  • Unexplained weight loss

Early detection is crucial, as starting treatment promptly can improve outcomes. Diagnostic methods include blood tests to assess blood sugar levels.

  • Effective diabetes treatment involves lifestyle changes like balanced diet, regular physical activity, and medications to control blood sugar levels. However, in some cases, insulin therapy is necessary.
  • Regular monitoring and management are essential to prevent complications like heart disease, kidney damage, and nerve problems. Education and support empower individuals to manage their condition and lead a healthier life.
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Dry Eye Syndrome

Management Team

Dry Eye Syndrome

Overview

Dry eye syndrome refers to a condition resulting from the eyes being unable to produce enough tears or the tears evaporating too quickly. This causes the eyes to dry out and eventually become inflamed. The incidence of dry eye syndrome increases with ageing, especially in women. Around 33% of people aged > 65 years may have this condition. Dry eye syndrome is common in patients with blepharitis and/or connective tissue disorders and among contact lens users.

Tears are important as the tear film (the layer formed by tears at the front of the eye) not only lubricates the eyes, keeping them moist, but also plays a role in focusing the light into the eye.

The tear film comprises three layers, each with different functions:

  • The mucin layer (closest to the eye): It coats the cornea (the dome-shaped clear front layer of the eye), forming a foundation for the other layers.
  • The aqueous layer (middle layer): It is mainly made of water and is the layer that is most associated with ‘tears.’ It is produced by the lacrimal (tear) gland and nourishes the cornea, providing it with oxygen, moisture, and other important nutrients.
  • The lipid layer (outer layer): This is an oily film that seals the tear film, preventing the evaporation of the aqueous layer.

The mucin and lipid layers are produced by small glands around the eye. When we blink, the tears are evenly spread over the front of the eye. The puncta (tiny drainage holes on the inside of the eyelids) drain away the excess tears, channelling them into the nose. This phenomenon explains why people often experiencing a runny nose while crying.

Several causes of dry eye syndrome have been identified:

  • Occurs mostly as a consequence of the natural ageing process.
  • Blinking problems.
  • Problems with tear gland function, such as meibomian gland dysfunction.
  • Some drugs, such as antihistamines and oral contraceptives, can cause dry eye.
  • Using contact lenses may exacerbate (worsen) dry eye.
  • Sometimes, dry eye represents a symptom of conditions affecting other body parts (particularly, Sjogren's syndrome or arthritis). Sjogren's syndrome is a chronic autoimmune condition marked by a dry mouth and dry vagina (apart from dry eyes). This condition may also be associated with certain types of arthritis.

  • Eye irritation, including itchiness, dryness, and discomfort in the eyes.
  • Redness and a burning, stinging, or gritty sensation in the eyes.
  • Temporary episodes of blurry vision, which normally go away with blinking or after a short time period.
  • Sometimes, excessive watering from the eyes.
  • Often, the eyes do not feel dry, but there are no tears during crying or when peeling onions.

No single test that can diagnose dry eye has been established. However, ophthalmologists may perform certain procedures to diagnose this condition:

  • Comprehensive eye examinations: Eye examinations that include a comprehensive assessment of the overall ocular and general health are performed.
  • Schirmer tear test to measure the tear volume: Blotting paper strips are placed under the lower eyelids for five minutes to measure the extent to which the strips are soaked by the tears. The tear volume may also be measured via the phenol red thread test. In this test, a thread filled with phenol red (a pH-sensitive dye that changes colour upon contact with tears) is placed over the lower eyelid. After the thread is wetted by tears for about 15 seconds, the tear volume is measured.
  • Staining tests to determine the tear quality: Eye drops containing special dyes are administered to determine the surface condition of your eyes. Corneal staining patterns are then examined, and the time required for the tears to evaporate is measured.
  • Tear osmolarity test: The tear composition (levels of water and particles in tears) is measured. Reduced levels of water in the eyes are indicative of dry eye disease.
  • Assessment of markers: The levels of dry eye disease-specific markers (such as decreased lactoferrin levels or elevated matrix metalloproteinase-9 levels) are measured.

  • Artificial tears/tear substitutes: Over-the-counter artificial tears are often helpful in treating mild or moderate-stage dry eye syndrome. However, for patients with severe dry eye disease who need to use eye drops frequently (more than 6 times a day) or for patients who are contact lens users, preservative-free eye drops are recommended.
  • Eye ointments can help lubricate the eyes. However, these are best used at night as they often cause blurred vision.
  • Using the LipiFlow device (an FDA-approved procedure for Meibomian gland dysfunction).
  • Lacrimal punctal plugs may be required to treat severe cases of dry eye syndrome.
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Diabetic Retinopathy

Management Team

Diabetic Retinopathy

Overview

Diabetic retinopathy, a common complication associated with diabetes, refers to high blood sugar-induced damage to the retina, which comprises layers of light-detecting cells. If left untreated, diabetic retinopathy can cause blindness. However, the progression of diabetic retinopathy to the visual impairment stage takes a long time.

Over time, excess sugar in the blood causes the blockage of the tiny blood vessels nourishing the retina. This results in the blood supply to the retina to be cut off. Angiogenesis (the growth of new blood vessels) often serves a natural strategy to counter loss of blood vessels. However, the improper development of these new blood vessels causes them to spring leaks. Diabetic retinopathy can be categorised into two main types each with distinct causes:

  • Early diabetic retinopathy: This is a common form. In this condition, new blood vessels are not growing (proliferating). Thus, this condition is also called non-proliferative diabetic retinopathy (NPDR). In NPDR, the walls of the blood vessels in your retina weaken, causing the protrusion of tiny bulges from the walls of the smaller vessels. Sometimes, these bulges may cause the leakage of blood and fluid into the retina. Although this condition is unlikely to affect vision, it can progress to a state at which it is sight threatening. Mild NPDR and moderate-to-severe NPDR (the condition worsens, owing to increased bleeding into the retina) increase the risk of vision loss in the future.
  • Advanced diabetic retinopathy: In some cases, diabetic retinopathy progresses to this severe type (also called proliferative diabetic retinopathy; PDR). PDR is accompanied by diabetic macular oedema. In PDR, blood vessels in the retina are blocked, resulting in a loss of blood supply. This promotes abnormal angiogenesis in the retina. Scar tissue formation resulting from the growth of these fragile blood vessels and the leakage of blood from these vessels into the vitreous humour (the clear, jellylike substance in the central part of the eye) lead to retinal detachment, increased intraocular pressure, optic nerve damage, and vision loss. Although the peripheral vision is not affected, without treatment, patients may be unable to perform daily activities, such as reading or driving.

Regular diabetic retinopathy screening is important because symptoms are not always noticeable until the condition has progressed to a serious stage. The early signs of diabetic retinopathy can be detected during these routine eye tests. This will aid the administration of the correct treatment to ensure that vision loss does not occur.

Diabetic retinopathy can also cause other symptoms:

  • Gradual deterioration of vision, including blurry or patchy vision.
  • Sudden vision loss.
  • Redness or pain in the eye.
  • Eye floaters.

Comprehensive dilated eye examinations are often the best method to diagnose diabetic retinopathy. In this examination, the pupils are widened (dilated) via the administration of specialised drops so that the ophthalmologist has a clear view of the regions within the eyes. These drops often cause the blurring of vision, but their effects wear off in a few hours. The ophthalmologist will examine different parts of the eyes for abnormalities using the following techniques:

  • Fluorescein angiography: After the eyes are dilated, the dye fluorescein is injected into a vein (in the arm). Images are captured as the dye circulates through the ocular blood vessels. These images help identify broken, leaky, or closed blood vessels.
  • Optical coherence tomography (OCT): Cross-sectional images of the retina are obtained. These images help the doctors ascertain the retinal thickness, enabling the determination of the extent of fluid leakage into the retinal tissues.

Diabetic retinopathy treatment is required only if notable problems are detected during screening. Preventive measures to lower the risk include:

  • Diabetes treatment (controlling blood sugar, pressure, and cholesterol and regular intake of diabetes medication).
  • Maintaining a healthy lifestyle.
  • Regular eye examinations.

However, for advanced-stage diabetic retinopathy, specific treatments may be required. These include:

  • Laser photocoagulation for patients with diabetic macular oedema. Small laser burns are introduced in the damaged areas of the retina to reduce fluid leakage. While this treatment may not result in notable vision improvement, it does help suppress further deterioration of vision.
  • Injection of anti-VEGF drugs into the eye.
  • Surgical procedures for scar tissue removal and elimination of blood leaking into the eye may be needed for patients with severe diabetic retinopathy.
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Diabetes in Pregnancy/Gestational Diabetes Mellitus (GDM)

Management Team

Diabetes in Pregnancy/Gestational Diabetes Mellitus (GDM)

Overview

Diabetes associated with pregnancy or gestational diabetes, happens when your body has trouble managing blood sugar levels while you are expecting. While the condition usually develops in the second half of pregnancy, sometimes, pre-existing diabetes can complicate pregnancies. Nevertheless, regardless of whether the patient is dealing with this condition for the first time or managing pre-existing diabetes, controlling blood sugar levels is crucial to keep the patient and the baby safe and healthy. Gestational diabetes disappears soon after the delivery. However, gestational diabetes has been reported to increase the risk of developing type 2 diabetes; hence, consistent blood sugar monitoring of the patients is crucial.

The placenta, which supports the baby’s growth, produces hormones that can interfere with the action of insulin, a hormone that helps regulate the blood glucose levels. The blood sugar levels increase when the body cannot produce adequate insulin to maintain the blood glucose levels; this leads to gestational diabetes.

Certain factors that increase the likelihood of diabetes development during pregnancy include:

  • Obesity: Being overweight or obese before pregnancy increases the risk of developing gestational diabetes.
  • Age: Women over 35 have a higher chance of developing gestational diabetes.
  • Family history: If diabetes runs in your family, your chances are higher too.
  • Polycystic ovary syndrome (PCOS): PCOS has been reported to increase risk of developing gestational diabetes.
  • Previous history of gestational diabetes: If you had diabetes during a previous pregnancy, you are more likely to develop it again.

Gestational diabetes can sneak up on you because for many women, there are no noticeable symptoms. Hence, screening tests during pregnancy are very important. However, some women may experience: 

  • Unusual thirst
  • Frequent urination
  • Fatigue
  • Blurred vision

Approximately 24 to 28 weeks into pregnancy, a glucose screening test (OGTT) is performed. This involves drinking a sugary liquid; then, the blood sugar levels are measured after 1 and 2 hours.

Gestational diabetes is managed with a multidisciplinary approach involving an obstetrician, endocrinologist, dietician, and diabetes nurse. The major aspects that are focus upon are as follows:

  • Healthy diet: A well-balanced, nutritious diet, which includes fruits, vegetables, lean proteins, grains/cereals, and diary. Avoiding snacks, sweets, and foods that are processed helps too.
  • Monitoring blood sugar: Regular monitoring of blood sugar.
  • Exercise: Physical activities such as walking, jogging, swimming, or yoga are also beneficial for lowering blood sugar levels.
  • Medication: In some cases, lifestyle changes alone are not sufficient; medications or insulin injections are required to modulate the blood sugar levels.
  • Regular monitoring:  Closely monitoring the baby’s growth, usually with ultrasound imaging, can help ensure that everything is on track with regard to the pregnancy.

While you cannot always prevent gestational diabetes, one or more of the following steps may be taken to lower the risk of developing this condition:

  • Maintenance of healthy weight (obesity management or healthy weight gain) before pregnancy
  • Consumption of a balanced diet
  • Regular exercise
  • Regular check-ups
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Dystonia

Management Team

Dystonia

Overview

Dystonia is a neuromuscular condition characterized by abnormal abnormal posturing, turning or twisting movements of head, trunk, or limbs.

  • Exact cause is unknown
  • Dysfunction of basal ganglia
  • Genetic factors
  • Brain injuries

  • Family history
  • Stroke
  • Brain or nervous system injury
  • Infections
  • Certain medications such as neuroleptics
  • Poisoning (for e.g., lead)
  • Involvement of precise hand movements, such as for musicians, artists, or engineers

  • Muscle spasms or cramps
  • Postural deformities
  • Difficulty in speaking, chewing, swallowing, walking, and writing
  • Abnormal eye blinking/ contraction of face
  • Bending of body

Neurologist

  • Clinical
  • Genetic testing
  • MRI Brain and PET scan for acquired and degenerative causes

  • Based on the affected body part
    • Generalized dystonia (affects all or most body parts)
    • Focal dystonia (affects one body part)- blepharospasm, cervical dystonia, oromandibular dystonia, truncal dystonia, and writer’s cramp
    • Multifocal dystonia (affects ≥2 unrelated body parts)
    • Segmental dystonia (affects ≥2 adjacent body parts)
    • Adult-onset dystonia is generally focal, whereas those beginning in childhood may become generalized.
  • Based on the cause
    • Inherited- caused due to gene mutation
    • Acquired- secondary to drug, brain injury, stroke, infection, metabolic
    • Idiopathic- no clear cause
  • Based on the symptoms
    • Dopa- responsive dystonia improves dramatically with dopamine supplementation
    • Myoclonus dystonia
    • Paroxysmal dystonia
    • Tardive dystonia
    • Functional dystonia

  • Medications (anticholinergics, dopamine blockers)
  • Botulinum toxin injections for focal dystonia
  • Physical therapy and rehabilitation
  • Surgery (deep brain stimulation)
  • Lifestyle modification (stress management, regular exercises)
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Duchenne Muscular Dystrophy (DMD)

Management Team

Duchenne Muscular Dystrophy (DMD)

Overview

DMD is a progressive genetic disorder presented by gradual muscle weakness. It is inherited in an X-linked recessive pattern, meaning that only the male members of the family manifest the disease while females are the carriers of the disease.

  • Starts in early childhood with progressive weakness of thigh muscles in first few years of life.
  • Calf hypertrophy
  • Patient become wheelchair bound by second decade of life
  • Skeletal deformities
  • Shorter life span with death due to breathing difficulties and cardiomyopathy
  • Becker’s muscular dystrophy is similar to DMD with similar inheritance but is less severe and less common. However, cardiomyopathy is more severe and cause of death in these patients

  • Family history
  • Carrier mother
  • Male sex
  • Spontaneous mutation in DMD gene

Neurologist

  • Clinical history and examination
  • Blood tests to determine serum CPK and LDH level
  • Electromyography to determine myopathic potentials
  • Genetic analysis
  • MRI of muscle groups affected
  • Muscle biopsy for dystrophinopathies

  • Corticosteroids for delaying cardiomyopathy and preserving pulmonary functions.
  • Physiotherapy and rehabilitation
  • Supportive treatment by tracheostomy and medicines to improve cardiac function.
  • Casimersen, viltolarsen, eteplirsen, givinostat, and golodirsen are under evaluation
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