Obstructive Jaundice Obstructive Jaundice Home Overview Jaundice refers to the yellow discoloration of the skin and eyes due to elevated levels of bilirubin in the blood.Bilirubin: A chemical produced by the breakdown of red blood cells, processed by the liver, and excreted via bile.Normal Bile Flow: Bile flows from the liver through bile ducts to the intestines, where it aids in digestion. Any disruption in this process can lead to jaundice.Obstructive jaundice occurs when the normal flow of bile from the liver to the intestine is blocked. This leads to a buildup of bilirubin in the bloodstream, resulting in yellowing of the skin and eyes, dark urine, pale stools, and itching. Types Medical Jaundice: Caused by liver dysfunction or systemic illnesses.Surgical/Obstructive Jaundice: Caused by physical blockages in the bile ducts. Causes and risk factors Medical CausesInfections: Viral hepatitis (A, B, C, non A- non B, E)Liver damage from medications, chemicals and drugsChronic liver diseases: Conditions like cirrhosis, primary biliary cholangitis, primary sclerosing cholangitis, or autoimmune hepatitisNon-alcoholic fatty liver disease (NAFLD): Common in obese individuals or those with diabetes, leading to cirrhosis.Surgical/Obstructive Causes of JaundiceGallstones: Stones that migrate to the bile ducts, causing blockage.Tumours: Cancers of the liver, gallbladder, bile duct (cholangiocarcinoma), pancreas, or periampullary region.Biliary Strictures: Narrowing of bile ducts due to scarring or inflammation. Symptoms Yellowing of the skin and eyes.Dark urine and pale stools.Itching due to bile salts in the skin.Abdominal pain, nausea, or vomiting (depending on the cause).Unexplained weight loss or loss of appetite (especially in cancer-related cases). Diagnosis Blood TestsLiver Function Tests (LFTs): Assess bilirubin levels and liver enzymes.Other Blood Tests: To check for infections, blood counts, or tumor markers.Imaging StudiesUltrasound: Often the first test to identify obstructions or stones.CT Scan/MRI/MRCP: Provide detailed images of the liver, bile ducts, and surrounding structures.EndoscopyEndoscopic Retrograde Cholangiopancreatography (ERCP): Visualizes and treats blockages, obtains tissue samples, and places stents to relieve jaundice.Endoscopic Ultrasound (EUS): Helps in evaluating tumors or stones. Treatment Medical CausesInfections: Treated with antiviral or antibacterial medications.Cirrhosis or NAFLD: Managed through lifestyle changes, medications, or, in severe cases, liver transplantation.Surgical/Obstructive CausesGallstonesCholecystectomy: Removal of the gallbladder, often performed laparoscopically.Cancer or TumoursLiver Resection: Removal of part of the liver for liver cancer or metastases.Hilar Resection: Surgery to remove tumours blocking the main bile duct (hilar cholangiocarcinoma).Whipple Procedure: Extensive surgery for cancers of the pancreas, bile ducts, or periampullary region.Minimally Invasive ProceduresERCP with Stenting: Temporary relief of jaundice by placing plastic or metal stents in bile ducts.Stone Removal: Endoscopic extraction of stones blocking bile flow.Advanced CancerPalliative CareFocuses on symptom relief, including biliary drainage to improve quality of life. Read more about Obstructive Jaundice Filter Alphabet O
Leukodystrophy Leukodystrophy Home Overview Leukodystrophy refers to a group of rare genetic disorders that affect the brain and spinal cord. It is characterized by the progressive destruction of the myelin sheath, the covering over the nerves that helps the nerves to conduct faster. Damage to the myelin sheath disrupts the transmission of nerve signals, leading to various neurological symptoms. Types Krabbe diseaseMetachromatic leukodystrophy (MLD)Globoid cell leukodystrophy (GLD)Adrenoleukodystrophy (ALD)Peroxisomal biogenesis disorders (PBDs)Refsum diseaseCerebrotendinous xanthomatosis (CTX) Causes Leukodystrophies are usually inherited in an autosomal recessive pattern and are caused by mutations in specific genes. Risk factors Genetics: It can be inherited from one or both parents. Some ethnicities may have a higher risk of leukodystrophy.Sex: Some types of leukodystrophy affect only men, while others affect men and women equally.Age: Many types of leukodystrophy are more common in children, but some can affect both children and adults.Genetic mutations: Genetic mutations can occur randomly when cells divide, or they can be caused by viruses, environmental factors, or a combination of these. Symptoms Vision lossHearing lossSeizuresCognitive declineMuscle weakness or paralysisDifficulty in coordination and balanceDifficulty in speech and languageDevelopmental delays Specialist to approach Neurologist Diagnosis Clinical examinationMRI brain and spinal cordGenetic testing depending on the specific pattern of involvement of brain Treatment Stem cell transplantationGene therapySupportive care Read more about Leukodystrophy Filter Alphabet L
Limb Girdle Muscular Dystrophy (LGMD) Limb Girdle Muscular Dystrophy (LGMD) Home Overview LGMD is a diverse group of neuromuscular diseases presenting with weakness of proximal group of muscles like shoulder and pelvic girdle. There are many subtypes of LGMD with different patterns of muscle involvement and associated features. They are genetically determined with autosomal dominant or autosomal recessive pattern of inheritance. They progress slowly and symmetrically. Causes Genetic inheritanceMutations in CAPN3, DYSF, and LGMD types 2I, 2K, 2M, and 2N genes Symptoms Weakness and atrophy of limb girdle muscles. Some muscles are selectively more involved, whereas others are sparedWaddling gait due to weakness of pelvic musclesTrouble getting up from a chair or climbing stairsDifficulty in lifting heavy objects especially over the headSome types may be associated with cardiomyopathy, cardiac arrhythmia, respiratory muscle involvementJoint stiffness and muscle crampsOccasional involvement of distal muscles Specialist to approach Neurologist Diagnosis Clinical history and examinationMRI of limb girdle to confirm the pattern of muscles involvedMuscle biopsyGenetic testing that can reveal the disease type:LGMD 1 (Autosomal dominant)- LGMD 1A, 1B, 1C, 1D, 1E, 1F, 1G, 1HLGMD 2 (Autosomal recessive)- LGMD 2A, 2B, 2C, 2D, 2E, 2F, 2G, 2H, 2I, 2J, 2K, 2L, 2M, 2N, 2O, 2P, 2Q, 2R, 2S, 2T, 2U, 2V, 2W, 2X, and 2Y Treatment Physiotherapy and muscle strengthening exercisesAssistive devices and orthosisGenetic counselling Read more about Limb Girdle Muscular Dystrophy (LGMD) Filter Alphabet L
Neuroendocrine Tumours (NET) Neuroendocrine Tumours (NET) Home Overview Neuroendocrine tumours arise from special type of cells, called neuroendocrine cells, located within the intestine. These cells are like nerve cells and hormone-making endocrine cells. Neuroendocrine tumours can arise in any part of the body and are rare tumours. Conventionally they are slow-growing and behave differently from the traditional cancers.Neuroendocrine tumours can form in any part of the body including the lungs and respiratory tract. Neuroendocrine tumours of the intestinal tract may arise from theSmall intestine – duodenum, jejunum and ileumStomachAppendixLarge intestine – colonRectumPancreas Types The tumours may arise from specialised cells, which secrete specific chemicals (hormones). And the over secretion of these hormones can result in specific symptom complexes (syndromes), which can be attributed to the action of these hormones. Tumours associated with over secretion of these hormones and specific syndromes are called “Functioning tumours”. There are neuroendocrine tumours, which do not secrete specific hormones and are referred to as “Non-functioning tumours”.Depending on their biology and aggressiveness, neuroendocrine tumours are classified into Grades 1, 2, and 3.Grade 1 and 2 tumours are more benign and slow-growing. Grade 3 tumours are also called as ‘Neuroendocrine Carcinomas (NEC)’ and are known to be locally aggressive and spread to other organs. Causes and risk factors The exact cause of NET is not fully known. The chances of tumour development increases in the following cases:Genetic mutation: Variations in the genes and a family history increases the riskPre-existing conditions such as diabetes and peptic ulcerRare inherited diseases such as neurofibromatosis, multiple endocrine neoplasia and Von Hippel-Lindau syndrome Symptoms The symptoms differ based on functioning and non-functioning neuroendocrine tumours.Functioning neuroendocrine tumoursThese secrete hormones which give rise to specific symptoms, based on the hormone secreted. Diagnosis is mainly based on clinical suspicion. Most common types include:Insulinoma: Secondary to over-release of insulin from the pancreas, this leads to recurrent and repeatedly low sugar levels, thereby leading to symptoms of hypoglycaemia, and neurological symptoms due to constant low blood sugar.Gastrinoma: This is due to over secretion of acid in stomach. Normal gastric acid secretion leads to digestion of the ingested food and absorption in the stomach. However, when gastric acid is released in excessive amounts, this results in severe acidic symptoms, development of “stomach like” ulcers in the large intestine, small intestine, and food pipe (oesophagus). The lesion causing gastrinoma may be present within the pancreas or even in the small intestine (duodenum).Carcinoid tumour: This is due to the release of another chemical–5 hydroxy tryptamine (5 HT)–this hormone typically causes diarrhoea, flushing, and intermittent abdominal painNon-functioning tumoursThese do not produce symptoms by virtue of over secretion of hormones, as hormones are not secreted by them. However they may produce the following symptoms:Bleeding: presents as blood in vomit or dark stools– Malena. Often, patients simply present with anaemia (low haemoglobin) and further investigations lead to a diagnosis of tumourAbdominal painLoss of appetite and weight loss Diagnosis Blood tests: Specific blood tests aim to identify elevated levels of the hormones in the blood, such as insulin, gastrin, chromogranin, etc.CT scan and imaging: Neuroendocrine tumours may be incidentally discovered during an ultrasound or CT scan performed for other reasons. Tumours have a characteristic appearance, which can raise suspicion of pancreatic neuroendocrine tumours.DOTA scan: This is a specialised type of nuclear medicine scan, specific and sensitive for neuroendocrine tumours (NETs). The presence of dye uptake confirms the presence of a tumour. Treatment Surgery remains the mainstay of treatment for all neuroendocrine tumours.Depending on the location of the tumour, the operation indicated would include removal of the affected organ with an adequate surrounding tissue (margin), which may include:Pancreatic surgery: Whipple procedure or distal pancreatectomySmall bowel: Removal of a segment of intestineStomach: A part or portion affected by the tumour is removed from the stomach. Also known as Gastrectomy.Colectomy: Part of the large intestine is removedNETs may also spread to other parts of the body – e.g. liver.Where possible all attempts to remove the part of the liver bearing the tumour should be performed. This is potentially curative and has achieved very good long-term results.Small asymptomatic non-functioning NETs may be kept under observation and surveillance only after thorough investigation and discussion.Non-surgical therapyChemotherapy: When surgery is not possible, certain medications are available, which will slow down the progression of the disease and also control the symptoms.Somatostatin analogues: These causes inhibition of release of the hormones and hence, help in controlling the symptoms. The somatostatin analogues also prevent the spread of tumour.Ablation: Radiofrequency ablation or microwave ablation is performed on the disease that spread to the liver or any other organ (e.g. lung). Read more about Neuroendocrine Tumours (NET) Filter Alphabet N
Gastrointestinal Surgery Gastrointestinal Surgery Home Overview Gastrointestinal surgery is performed for various diseases of the gastrointestinal tract, which involves the liver, pancreas, gall bladder, stomach, and small and large intestines. The operation can be done through the conventional open method (through a cut or incision on the abdomen) or through any of the minimally invasive methods, which include either the laparoscopic method or robotic surgery. Indications Cancer of the stomach – removal of parts of the stomach for cancer and neuroendocrine tumoursCancer and tumours of the small intestineLarge intestine cancer and large polyps – colon cancerRectal cancerInflammatory bowel diseaseSurgery on the gall bladder for cancer and gall stones, which includes removal of the gall bladder for stone – laparoscopic cholecystectomySurgery on the pancreas for cancer and pancreatitis. The most common reason for pancreas surgery is due to cancer, when a variable portion of the pancreas is removed either through Whipple’s procedure or distal pancreatectomy depending on the location of the tumour.Surgery on the liver – hepatectomy, which involves removal of part of the liver affected with cancer. Cancer might arise in the liver – hepatocellular carcinoma (HCC) or cholangiocarcinoma (CCA) or cancer that has spread to the liver from elsewhere through liver metastasesSurgery for large tumours in the abdomen – neuroendocrine tumours/retroperitoneal tumours and massesSurgery for miscellaneous abdominal conditions – acute abdomen, including perforation/obstruction and infections. Read more about Gastrointestinal Surgery Filter Alphabet G
Stomach Cancer Stomach Cancer Home Overview Stomach or gastric cancer occurs when the stomach cells grow abnormally. The most common site of cancer in the stomach is the main body of the stomach. Initially, the cancer cells are seen near the lining of the stomach, after which they eventually invade deeper into the walls. Causes and risk factors The exact cause is not yet known. However, some common causes of stomach cancer include:Genetics: Cancer occurs due to mutation in the DNA in the cells of the stomachInfections: Helicobacter pylori and Epstein-Barr virusObesity and diet: High-fat diet, high salt diet - including pickles, and less consumption of fruits and vegetablesAlcohol and tobaccoGastritis and gastrointestinal reflux disease Symptoms Bloated feelingLoss of appetiteUnexplained weight lossBlood in stools or vomitNauseaFeeling full after a snack Diagnosis EndoscopyCT scanBiopsyBarium swallow testBiomarker tests Treatment Treatment for stomach cancer depends on the stage of cancer.Surgery is performed to remove the cancer, which includes removing stomach parts affected by cancer, along with the lymph nodes. Diet changes such as eating smaller and frequent meals will be necessary. Doctors may prescribe vitamin supplements to compensate the actions of stomach, some of which can only be injected. Stomach cancer surgery involves different types:Total gastrectomy: This operation involves the complete removal of stomach along with the lymph nodes and omentum, sometimes including parts of intestines, pancreas, spleen, and oesophagus. The remaining parts are attached (usually the end of oesophagus to the remaining small intestine). This is performed when the cancer is in the upper part of stomach.Subtotal (partial) gastrectomy: This operation involves removal of only a part of the stomach. It is often recommended when the cancer is in the lower part only or upper part of the stomach.Palliative surgery: Surgery is preferred even in cases of advanced cancer and unresectable stomach cancer to prevent the blockage of stomach by the tumour and to prevent bleeding or relieve symptoms or complications. This includes subtotal gastrectomy as well. The goal is not to cure cancer but to relieve symptoms.Endoscopic resection: Endoscopic mucosal and submucosal resections are used in early stage cancers, when the chances of cancer spreading to the lymph nodes is minimal. This procedure involves an endoscope to remove the tumour and surrounding parts of the stomach.Endoscopic tumour ablation: An endoscope is used to guide laser beam to eliminate the parts of tumour in people in whom surgery cannot be done. This is performed to relieve blockage and stop bleeding without any surgery.Gastric bypass (gastrojejunostomy): Sometimes, the tumours are large enough to block the food from leaving the lower part of the stomach. An option to help prevent or treat this blockage of food passage is to bypass the lower part of stomach. A part of the jejunum is attached to the upper part of the stomach, so that food passes without any obstruction.Stent placement: A stent is placed using an endoscope to prevent the blockage at the opening or end of stomach. So that the food passes freely through it. Read more about Stomach Cancer Filter Alphabet S
Pancreas Cancer Pancreas Cancer Home Overview Pancreas cancer occurs when certain cells within the pancreas, grow and spread forming a malignant tumour. Pancreas is located deeply within the abdominal cavity and in the vicinity of major and vital blood vessels supplying blood to the liver and intestines. Causes and risk factors The exact cause of pancreas cancer is not known. Factors increasing the risk of cancer are:Genetics: Pancreatic cancerNewly diagnosed diabetesAlcohol consumptionSmoking tobacco Symptoms Cancers of the pancreas can be silent and may not show any defined or specific symptoms. Hence, they are often discovered at an advanced stage. This is especially true for cancers in the body and tail of the pancreas, which can remain silent for a long time. Unlike cancers in the pancreatic head, those in the body and tail of the pancreas do not present with jaundiceJaundice: Jaundice is one of the most common symptoms in the development of pancreatic cancer. It occurs due to obstruction in the bile duct. Most cancers of the pancreas originate in the head region of the pancreas and present as jaundiceUnexplained weight lossNauseaVomitingRecent development of diabetes or worsening of pre-existing diabetes Diagnosis Computed tomography (CT) scan: CT scan will accurately stage the cancer, which will help to define the treatment planBlood tests for CA 19-9 and CEA (tumour markers)Endoscopic retrograde cholangiopancreatography (ERCP)/ endoscopic ultrasound (EUS): These are specialised endoscopic tests done to establish the diagnosis of pancreatic cancer. In some cases, biliary stenting (stenting of the bile duct) may be required before surgery. While not always necessary, it can help reduce jaundice. Once the jaundice level decreases, a pancreatoduodenectomy (Whipple's procedure) may be performed Treatment Treatment will depend on the stage of the cancer/tumour, which can be accurately obtained using a CT scan. At times, additional investigations, including positron emission tomography (PET) scans and magnetic resonance imaging (MRI), may be required for further information. Accurate mapping of the tumour and its relationship with the neighbouring blood vessels need to be defined, while making treatment decisions. The treatment includes:Surgery: Surgery is the only ideal treatment with a potential for cure. Surgery for pancreas cancer will depend on the location of the tumour within the pancreas.Whipple procedure: This procedure is an operation in which the lower bile duct along with the head of pancreas, a portion of stomach and initial portion of the small intestine (jejunum) is removed to eliminate the tumours located in the head of the pancreas, periampullary region, duodenum (small intestine) and lower bile duct.Distal pancreatectomy: This operation is usually done for tumours located in the body and tail of pancreas (left side of pancreas). The operation also sometimes involves removal of the spleen alongside, although the spleen can be preserved in certain select cases.Chemotherapy: At times, chemotherapy may be required for certain advanced cancers prior to surgery (neoadjuvant chemotherapy). This helps in reducing the size of the tumour to make them smaller for facilitating the complete removal of tumour. Different regimes of chemotherapy are available, which are individualised based on the patient conditions. Following surgery, chemotherapy is given after analysis of the pathology report (adjuvant chemotherapy). This is usually done after complete recovery from the surgery. Read more about Pancreas Cancer Filter Alphabet P
Limbic Encephalitis Limbic Encephalitis Home Overview It is a rare neurological disorder, in which an autoimmune inflammation of the brain predominantly affects the limbic area, secondary to infection or cancers. It is acute in onset and causes altered sensorium, behaviour changes, seizures. Causes CancerHerpes simplex encephalitisAutoimmune disorders Risk factors Older ageWeakened immune systemGeographical regions where mosquito- or tick-borne viruses spread easilySeason of the yearSmoking Symptoms Headache and irritabilityBehavioural changes- delusion, hallucinations, agitation, psychosisAcute to subacute memory lossSeizuresCommon antibodies associated with limbic encephalitis are Anti Hu, Anti-Ma, Anti CRMP5, anti-GAD 65, anti Ampiphysin, Anti- NMDAR, anti VGKC, anti AMPA, Anti Glu antibodies Specialist to approach Neurologist Diagnosis CSF and blood investigations to detect pathogenic antibodiesFLAIR and contrast changes on MRI in limbic areasPET scan to check increased metabolism in these areasEEG to check for abnormalities Treatment Immunomodulation with corticosteroids, intravenous immunoglobulin, plasmapheresis in acute stageRituximab, cyclophosphamide for long-term therapyRemoval of tumourSupportive management of psychosis and seizures Read more about Limbic Encephalitis Filter Alphabet L
Juvenile Myoclonic Epilepsy (JME) Juvenile Myoclonic Epilepsy (JME) Home Overview JME, also known as Janz syndrome, is a type of generalized epilepsy syndrome usually seen in young females in their second or third decades. It is characterized by different types of seizures afflicting the same individuals. Causes Exact cause remains unknownMay be genetic Risk factors Family historyAge of onset: JME usually begins between ages 12 and 18.Male sexCommon triggers for JME include:Lack of sleepExtreme tirednessStressAlcohol consumptionFlickering lights, such as strobe lights, video games, or light reflecting off ocean waves or snowMenstrual periods for some girls and women Symptoms Myoclonic seizures are the hallmark of JME. They are sudden jerk like movements of extremities usually after getting up from sleep or while going to sleep. They occur in cluster with many jerks happening continuously and may vary from mild to severe in intensity. They may manifest as sudden dropping of objects from hands or frank jerks.Generalized tonic-clonic seizures are full-blown convulsions (muscle contraction and relaxation repeatedly) with abnormal posturing and jerking of body. In JME, it is typically seen following clusters of myoclonic jerks. Frequency may vary in different individuals.Absence seizures may also be seen in JME with the above-mentioned seizures. In absence seizures, the patient suddenly becomes blank and discontinues all activities. After a brief interval, they begin to resume their activity without any awareness about the episode.Photosensitivity- the attacks may get precipitated by bright flickering lights as in video games. Specialist to approach Neurologist Diagnosis Clinical historyEEG shows typical pattern of 3-6 Hz generalized spike and wave activity with photosensitivityMRI and genetic testing are usually normal. MRI may be done to rule out structural causes Treatment Antiseizure medicationAvoid precipitating factors such as sleep deprivation, stress, poor drug compliance, stimulant drugs, and alcohol Read more about Juvenile Myoclonic Epilepsy (JME) Filter Alphabet J
Insomnia Insomnia Home Overview Insomnia refers to a sleep-related disorder characterized by challenges in initiation or maintenance of sleep leading to inadequate sleep quality and/or duration. Causes Stress and anxietyPoor sleep habits (stimulants such as coffee, and use of electronic gadgets before bed)Medical conditions (chronic pain, sleep apnoea, or restless leg syndrome)Medications (used to treat depression, ADHD, or high blood pressure)Lifestyle factors (working late shifts, traveling across time zones) Risk factors Lifestyle: change in routine, traveling to different time zones, or working shift workMental health: stress, anxiety, depression, or other mental health conditionsMedical conditions: diabetes, high blood pressure, or other physical health conditionsSleep environment: noise, light, or an uncomfortable bedSubstances: consuming caffeine, nicotine, alcohol, or recreational drugs before bedtimeAge: Insomnia is more common in people over 60 years of age and health.Sex: Hormonal changes during menstruation and menopause can make it more likely for women to experience insomniaGenetics: 31% to 58% of a person's likelihood of experiencing insomnia is due to geneticsSafety: People who do not feel safe in their homes, such as those experiencing repeated violence or abuse Symptoms Difficulty falling asleepWaking up too early in the morningWaking up frequently at nightFeeling tired or groggy upon wakingDifficulty concentrating or paying attentionMood disturbances, such as irritability or anxietyReduced productivity and performance Treatment Cognitive behavioural therapy for insomnia (CBT-I)Sleep hygiene practices (e.g., consistent sleep schedule, relaxing bedtime routine)Sleep aids (e.g., melatonin, prescription sleep medications)Addressing underlying medical conditions or lifestyle factorsRelaxation techniques (e.g., deep breathing, progressive muscle relaxation) Read more about Insomnia Filter Alphabet I