Jacqueline M. Cook, MD

• Department of Medicine
• Yale University School of Medicine
• Yale-New Haven Hospital
• New Haven, CT

These components of a "good bedside manner" were once considered an important attribute of a successful practitioner breast cancer volunteer opportunities buy sarafem uk. Most complaints in health care systems young women's health tips order 10mg sarafem fast delivery, both public and private breast cancer 14s shoes generic 10mg sarafem fast delivery, arise from poor communication menstrual order generic sarafem from india. When these are followed by a poor treatment outcome womens health media kit generic 10mg sarafem overnight delivery, complaints menstrual odor buy discount sarafem on-line, quarrels, and legal action are likely. Good communication can play a significant part in avoiding complaints and malpractice claims. A doctor with these skills is more likely to have happy, satisfied patients, than an equally technically competent doctor who does not bother about communication. Speaking in technical/medical language leaves the parents confused and uninformed. Parents also often want to know about advertised alternative medicine, and it is necessary to explain the unscientific and unproven nature of such "magic remedies". A quiet room, lack of interruptions, provision of chairs for the parents, sitting at an appropriate distance, good eye contact, etc. Some suggestions for future care improve their confidence that they will be able to manage the situation. Sometimes, the whole picture may need to be delivered in small parts spread out over two or more visits. They appreciate the fact that their doctor understands their situation and their difficulties. Good communication and counseling is an art that is acquired, developed and improved by experience. Efforts in this direction will lead to better patient/parent satisfaction and perhaps better clinical outcomes. It is well to remember that compassion, explanation, and reassurance are valued by patients and their families as much as a diagnosis, treatment, and cure. Discontinuation of use and switching of antidepressants: influence of patient-physician communication. Medical malpractice: the effect of doctor-patient relations on medical patient perceptions and malpractice intentions. Compensation can be claimed under Law of Contract, Law of Tort or under Consumer Protection Act. If any death or other mishaps used to occur, it was attributed to the act of God and the public used to accept it without any adverse reactions. As the times have gone by, medical professionals are being viewed with suspicion and are being dragged into the court for genuine or frivolous reasons. Deterioration in moral values, increased value for materialistic things, commercialization of the profession, higher expectation of the patients, awareness of rights and privileges of the patients, increasing consumer activism, media sensationalism, undue interference by the politicians, etc. It is prudent on the part of the doctor to have an understanding of what constitute medical negligence and how to prevent it along with improvement in doctor-patient relationship by good ethical practice. What may be negligence in civil law may not necessarily be negligence in criminal law. For an act to amount to criminal negligence, the degree of negligence should be much higher, i. Negligence which is neither gross nor of a higher degree may provide ground for action in civil law, but cannot form the basis for prosecution. To prosecute a medical professional for negligence under criminal law, it must be shown that the accused did something or failed to do something which in the given facts and circumstances no medical professional in his ordinary senses and prudence would have done or failed to do. The hazard taken by the accused doctor should be of such a nature that the injury which resulted was most likely imminent. Medical Negligence Medical negligence has been divided into civil negligence and criminal negligence. In civil negligence the affected party takes the doctor to the court for monetary compensation whereas in criminal negligence the prosecution is done by the State and the punishment is usually fine or imprisonment. The failure to attain that standard of care, prescribed by the law, thereby committing a breach of such duty; and Damage, which is both causally connected with such breach and recognized by the law, has been suffered by the complainant. Precautions to be Taken during Treatment In the practice of medical profession, some precautions have to be taken to make the defense strong in cases of litigations. But many cases have been lost due to failure in proving the same in the Judicial Forums. It is a well established law that it is sufficient if he exercises the ordinary skill of an ordinary competent man exercising that particular art. He is not negligent if he has acted in accordance with the practice accepted as proper by a responsible body 18 of medical practitioners skilled in that particular art. So the doctor is duty bound to disclose the information as to the risk which can arise from the treatment of the patient. A majority of the courts require the doctor to disclose information that other physician possess of the same skills or practicing in the same community would disclose in the same situation. Any person of sound mind who has attained the age of 18 years may give a legally valid consent. A consent given by a child under 12 years is invalid, between 12 years and 18 years is valid if the court feels that the patient has understood the implication of the consent. In a situation where there was no proper informed consent and if some medically acceptable complication occurs as a treatment outcome, the doctor can be punished under medical negligence as it can be always claimed that if there was an awareness of the complications the consent would not have been given and hence the doctor will be held responsible for the complications. In situations where there is refusal of treatment the consequences should be explained to the patients/parents in front of a witness and it is better to get the refusal signed by them. The doctor has also got the right to refer the patients elsewhere if the treatment is refused. If the refusal involves the welfare of a minor or an unborn baby, the courts can override the objections of the parents. When a medical personnel advances a plea that the patient did not give his consent to the treatment suggested by him, the burden is on him to prove that non-administration of the treatment was on account of the refusal to give consent thereto. So a medical professional should update his medical knowledge by regular attendance at continuing medical education programs. I f the complaint is genuine, an apology to pacify them is necessary and if the complaint is due to some misunderstanding, the matter should be explained. To conclude, a good doctor-patient relationship will decrease the adverse incidents in the practice of medical profession. A good understanding of the laws involving the medical profession and taking proper precautions will help the medical professional in dealing with litigations. Medical Negligence and Compensation, 2nd edition, Calcutta: Eastern Law House Pvt. If we assemble a cohort of 1000 children, less than 2 are likely to receive treatment in a teaching hospital. Patients seen in office practice have a wide spectrum of severity and differ significantly to that seen in hospitals. Such patient mix precludes generalization and application of results from studies that are mostly done in teaching hospitals. Equally important is the frequently encountered psycho-social morbidity in primary care office practice but uncommon in hospital settings. The sample represents the true population sample and the prevalent problems; accurate character of the disease and natural history; research on psychosocial issues is enabled; allows for health care services research; large sample sizes can be accrued; and it helps to improve quality of care. Office based research has the potential for improving the effectiveness, efficiency, delivery, feasibility, and reach of clinical care and behavioral interventions. When an idea comes, think, and reflect on this for a few days or weeks, and think it through your colleague(s). Once research question is defined, it is important to think about how it will be answered. A good research question has four characteristics: feasibility (availability of adequate number of subjects, technical expertise, availability of ancillary services and investigations, time, funds, and scope); interesting to the investigator (passion of physician is essential); newness (confirms or refutes previous findings in your settings, provides new insights to the subject); ethical and relevant (to your practice, scientific knowledge, policy, future research directions). There are a number of online information and electronic data bases that the clinician may tap to find the evidence. There are several websites that are modeled to facilitate evidence based medicine. These websites provide consolidated information on a wide range of clinically relevant areas and questions. The literature should be relevant to the research question and the findings valid and applicable to the settings in which the physician is working. Study design and how the potential biases have been handled are critical factors determining the validity of the findings of an article. Findings of a study on the compliance of anti-tubercular therapy done in Latin America may not be applicable in Indian settings due to various social, cultural and economic factors but do give an idea about the methods for studying the problem in your practice environment. Descriptive studies ask simpler questions about what is going on in the practice environment. Every hypothesis has also four components: the research question, patient population and its description, study design to be applied and expected outcome. Most of the practicing physicians will require consulting an academic colleague to choose the appropriate study design. Loneliness of solo practitioners and emotional involvement with patients are additional barriers. This has restricted the opportunity for pediatricians and family physicians to improve the quality of care in office practices. During last two decades, there is worldwide movement to encourage and rope in clinicians in primary care to engage in the much needed research. Collecting research data in geographically dispersed network environment requires proactive efforts at coordination, accuracy and timely transmission of data. It is important that data collection methods match the study design for accuracy and comfort. Some examples may include: assessing severity of diarrhea and respiratory tract infections; determining indications for giving antibiotics in febrile child; when to order for investigations after a head concussion; assessing and managing first time pain abdomen which does not respond to antispasmodics; positive Mantoux test in a child with recently treated pulmonary tuberculosis; and many other such difficulties. Sentinel surveillance; counting and characterizing clinical encounters; understanding primary care encounters; comparing approaches to manage patients; modifying patient/clinician behavior; conducting pragmatic clinical trials; comparing approaches to deliver services in practice and monitoring outcomes are some of the broad areas where questions may be developed and research done. Studies such as these most often result from joint contributions of office based physicians and hospital based consultants, and has their major impact in community practice, where the results are most applicable. Practice based research network the practice based research network can be considered the research laboratory of the primary care setting. Subsequently these networks have been involved to answer and shed new light on the complex, adaptive processes of primary care practices and imperatives. The design of such network studies have to be kept simple and easy; study duration should preferably be short with quick results to keep the motivation high, budgetary requirements need to be reasonable and they should not have ethic related complexity. The research coordinator is of critical significance; the person ought to have good research method knowledge, be able to carry network partners together and accomplish the task with consistent implementation of quality assurance steps during execution of study protocol. In a network, there are issues of selection bias, sampling errors, and data collection standardization, which are method aspects that may not be easy to control in busy and varied practice settings. Funding for practice based research is definitely a major barrier but not that is insurmountable. Professional associations such as Indian Academy of Pediatrics may be able to facilitate and mobilize funds from donors, foundations and government agencies. Collaboration with universities or medical schools is other option to generate resources. The support from the industry is justified provided issues related to conflict of interest are taken care of and independence along with scientific rigor of the work are consistently maintained. Keeping in mind the methodological limitations and potential biases, office 21 based patient material represents the "real world" situations vip. Pediatric Clinical Research Networks: Current Status, Common Challenges, and Potential Solutions. During the neonatal period, preterm/low birth weight birth, perinatal asphyxia, and sepsis are the leading causes of death whereas infectious diseases like pneumonia, diarrhea, and malaria are the leading causes of death beyond the neonatal period. With the inclusion of Afghanistan, the region now houses countries with the highest child mortality rates in Asia. These include appropriate care of the mother in pregnancy, use of antenatal steroids in preterm labor, antibiotics for preterm premature rupture of membranes, appropriate care in the first 48 hours after birth.

Most brain abscesses occur in the cerebral hemispheres menstruation bowel movements discount sarafem 10mg mastercard, some in the cerebellum and brainstem pregnancy zofran effective sarafem 20mg, depending on the etiology pregnancy fatigue sarafem 20 mg visa. Multiple scattered abscesses are common with hematogenous infections; those secondary to direct spread are usually single and occur in contiguous brain parenchyma menopause drugs sarafem 10mg with visa. Diseases of Central nervous system Clinical Presentation Clinical presentation is variable; usually it is subacute with fever women's health center of santa cruz discount sarafem generic, headache pregnancy nausea order discount sarafem line, vomiting, altered sensorium, seizures, neck rigidity and focal neurodeficitis depending on the site of the abscess. Occasionally the presentation may be acute if the abscess ruptures in the ventricles. Neonates and young infants present with nonspecific features of irritability, lethargy, poor feeding, seizures, bulging fontanels and an enlarging head; focal signs are rare. Differential diagnosis includes tumors, focal encephalitis such as herpes, and other focal suppuration. Etiology Streptococci, staphylococci, Gram-negative organisms, anaerobic bacteria and several unusual organisms may cause brain abscess. In neonates Gram-negative organisms particularly Citrobacter diversus and Proteus mirabilis are common. The causative organisms of the abscess are determined mainly by the underlying/predisposing condition. Pathogenesis Brain parenchyma gets infected by the hematogenous route, contiguous spread from an adjacent infection, trauma or a neurosurgical procedure. Following hematogenous infection, the pathogens localize in the poorly vascularized areas of the brain such as the gray-white junction and cause cerebritis. Blood cultures are positive in less than 25% cases with hematogenous infections Table 6. Prevention Early treatment of orofacial and dental infections, and antibiotic prophylaxis for children with cyanotic congenital heart disease undergoing procedures associated with bacteremia; and after penetrating skull injury or craniotomy are some helpful measures. Management Management involves appropriate antibiotics and surgical drainage or excision of the abscess. A broadspectrum combination to cover anaerobic, Gramnegative, Gram-positive and staphylococcal species is used until a specific organism is identified. There is no scientific evidence to recommend the use of prophylactic anticonvulsants. Neurocysticercosis is acquired through the feco-oral route, by eating food contaminated with T. In the human intestine the eggs hatch to release larvae that penetrate the intestinal mucosa, and migrate throughout the body to produce human cysticercosis. Cycsticerci often live asymptomatically within host tissues for years, (vesicular cysts) evading host response after which they degenerate (colloidal or granular nodular stage) and cause symptoms. Clinical manifestations Neurocysticercosis is classified into parenchymal and extraparenchymal (ventricular, cisternal, ophthalmic or spinal). Most children present with single degenerating parenchymal cysts, some with multiple cysts. Parenchymal Neurocysticercosis Parenchymal neurocysticercosis usually presents after 5 years of age, some cases are seen in preschoolers and even in infants. Poor prognostic factors include multiple large abscesses, underlying cyanotic heart disease, rupture of Extraparenchymal Neurocysticercosis Extraparenchymal neurocysticercosis is rare in children as compared to adults, and may present as arachnoiditis, obstructive hydrocephalus or chronic meningitis. Ophthalmic cysticercosis can cause visual deficits and limitation of eye movements. Calcified cysts are few millimeters in size, single or multiple and generally without any surrounding edema. Mantoux test, chest X-ray and other tests should be done for exclusion of tuberculosis. Stool examination for tapeworms, blood counts and X-rays of skeletal muscles are not useful. Cysticidal Therapy Albendazole (15 mg/kg/day, 4 weeks) or praziquantel (50 mg/kg/day for 15 days) has been found effective for destruction of vesicular cysts. However, whether cysticidal therapy improves long-term seizure control is debatable. Albendazole is the drug of choice as it is more effective than praziquantel, less expensive and better tolerated. Cysticidal therapy is not indicated for calcified lesion(s) as the parasite is already dead. Differential Diagnoses In cases where the scolex is not well seen, the differential diagnosis mainly includes tuberculoma. Single lesions disappear within 6 months in over 60% cases, and risk of seizure recurrence is low. Cases with multiple lesions and calcifications have frequent seizure 377 recurrences. Cerebrospinal fluid pleocytosis in children in the era of bacterial conjugate vaccines: distinguishing the child with bacterial and aseptic meningitis. Third generation cephalosporins versus conventional antibiotics for treating acute bacterial meningitis. The diagnosis and management of acute bacterial meningitis in resource-poor settings. Microbiology and epidemiology of brain abscess and subdural empyema in a medical center: a 10-year experience. The incidence of nontraumatic coma is 30/100,000 children per year and that of traumatic coma is 670/100,000. Definitions Clouding of Consciousness Clouding of consciousness describes states of reduced wakefulness characterized by impaired attention and memory. Patients may be distractible, hyperexcitable and irritable with slow thought processes. Even when aroused, communication is by monosyllabic sounds and simple behaviors and as soon as the stimulus ceases the stuporose subject lapses back into the unresponsive state. Brain Death Brain death is defined as the permanent absence of all brain functions including those of the brainstem. Brain-dead patients are irreversibly comatose and apneic with absent brainstem reflexes. Coma Coma is a state of unconsciousness in which the eyes are closed and sleep-wake cycles are absent. There is no understandable response to external stimuli or inner need and the patient neither utter understandable responses nor accurately localize noxious stimuli. Clinical tips to Differentiate Coma by etiology Detailed and clear history is important to approach a case of coma. History of accidental or non-accidental trauma differentiates between traumatic and nontraumatic coma. Presence of fever points towards an infective cause of coma though fever may precipitate a metabolic cause of coma too. History of drowning, choking, aspiration, drug/toxin exposure or dog bite should be elicited. Coma due to inborn error of metabolism can occur at any age but symptoms of failure to thrive; neurodevelopmental delay and seizures with history of consanguinity may precede encephalopathy. Hypotension may be seen in shock, myocardial dysfunction or adrenal insufficiency and can lead to decreased cerebral perfusion. Silent tachypnea may be metabolic because of acidosis due to diabetic ketoacidosis, drug/toxin, uremia, etc. General Examination Skin/mucosal membranes should be examined for anemia, icterus, rash, skin bleeds, purpura, and neurocutaneous markers. Measure head size for microcephaly, palpate fontanels, look for sutural separation and auscultate head for any bruit. Systemic Examination Cardiac examination is important to look for any evidence of heart lesion, which may lead to stroke, palpate abdomen for hepatosplenomegaly which may be present in various infection or metabolic disorders and respiratory examination is helpful to detect underlying pneumonia or empyema. Patency of the airway and adequate breathing should be ensured as a comatose child is more prone to aspiration because of loss of protective reflexes. Hemodynamic status should be monitored and fluid bolus be (20 mL/kg) given on evidence of shock. Hypoglycemia, if present, should be treated, hematological, biochemical and acid-base status should be assessed and derangements corrected. Evidence of internal and external injuries must be sought and any temperature instability must be treated. Neurological Examination Careful neurological examination is important to localize the cause and the lesion. Prior administration of neuromuscular drugs or anticonvulsants may hamper the examination. Each component of the score should be reported separately as compared to summed up score. Seizures, retinal Eye Findings Examine pupillary reaction to light, direct and consensual. Preserved pupillary reaction despite other brainstem abnormal signs, indicate toxic/metabolic 380 vip. Unilaterally fixed and dilated pupil is evident of transtentorial herniation, provided topical administration of mydriatics has been ruled out. Presence of nystagmus may be because of ongoing status, barbiturate or phenytoin poisoning. Persistent ocular deviation may be due to hemispheric or brainstem dysfunction or ongoing status. Ophthalmoplegia, ocular bobbing, convergent or divergent spasms, episodes of lid retraction and spontaneous blinking usually suggest brainstem dysfunction. Diseases of Central nervous system investigations Comatose child may need a variety of investigations. The list is exhaustive and some may be needed in all and some may be tailored according to the differential diagnosis (Table 6. Always discuss with neuroradiologist to plan the investigation, which is best for the patient and is cost effective. Motor Examination Examine bulk, tone, posture, asymmetry and reflexes in motor system. Decortication and decerebration can result from metabolic, toxic and structural "causes" of coma. Dystonia or dyskinesia in a comatose child without antecedent history of a neurometabolic disease may be present in Japanese B encephalitis, tubercular meningitis and inborn errors of metabolism or phenothiazine, phenytoin or metoclopramide toxicity. But, they are useful in acute disseminated encephalomyelitis, tubercular meningitis and enteric encephalopathy. Adequate nutrition should be provided in all cases of coma and some cases may need to be fed through nasogastric tube. Prognosis and outcome nontraumatic Coma the outcome of coma depends on the etiology, depth and duration of impaired consciousness. All children with nontraumatic coma should be given aggressive multidisciplinary rehabilitation program till 12 months before giving any outcome. Pattern of Respiration Abnormal respiratory patterns help in localization of the disease. Other Neurological Signs Neck rigidity is present in meningitis, herniation or trauma. Predictive value of electroencephalography and computed tomography in childhood non-traumatic coma. Incidence, aetiology, and outcome of non-traumatic coma: a population based study. Annual incidence in developed countries is around 28 cases per million children less than 19 years of age. Childhood brain tumors differ significantly from adults in reference to their location, clinical presentation, tendency to disseminate early, histological features and their biological behaviors. Astrocytoma and embryonic tumors are more common in children, whereas metastases, glioma and meningioma are seen predominantly in adults. Manifestations and outcome depend upon location, degree of resectability and response to adjuvant therapy. Pathophysiology and classification Brain tumors can be classified according to location, histological criteria and degree of malignancy (Tables 6. The terms "benign" and "malignant" often are misleading when applied to brain tumors. Malignant tumors such as medulloblastoma may be curable in up to 80% of children who are older than 3 years if radically removed and are not disseminated at diagnosis. Conversely, some benign tumors can disseminate (up to 4% of cases in low-grade astrocytoma), and may be quite difficult to eradicate. In medulloblastoma, common cytogenetic abnormalities observed are isochromosome17q, deletion at 6q and 9q. Hereditary syndromes like neurofibromatosis, von-Hippel-Lindau disease and ataxia telangiectasia are associated in about 5% of brain tumors. Environmental factors like high dose radiations and viral infections have also been implicated in the causation of brain tumors.

A number of disorders can cause abdominal pain; the most medical cause being constipation breast cancer 2 day walk order 10mg sarafem otc, and the most common surgical cause being appendicitis women's health issues china generic sarafem 20 mg with visa. Yet only in a small number of children is the pain caused by organic disease and in the majority the pain is functional breast cancer forum purchase sarafem 10mg mastercard, i womens health 042013 discount sarafem express. The differential diagnosis of abdominal pain in children varies with age women's health bendigo hospital generic sarafem 20mg with visa, sex breast cancer volleyball order sarafem 10mg free shipping, genetic and environmental factors. Besides organic and functional components are not mutually exclusive, since psychological complications of organic disease are common in children. Hence the diagnostic approach to abdominal pain in children relies heavily on the history provided by the parent and child to direct a stepwise approach to investigation rather than multiple "exclusionary" investigations. This has been replaced by the term chronic abdominal pain which refers to pain present continuously or occurring on a weekly basis for a minimum period of 2 months. It is a description, not a diagnosis, and can be due to organic disease or functional causes. A child with chronic abdominal pain poses a formidable challenge as the parents may be terribly worried; child may be distressed and the practitioner may be concerned about ordering multiple tests to avoid missing occult disease. The pelvic examination may suggest gynecologic problems, such as endometriosis, ectopic pregnancy or ovarian cysts or torsion. The red flag signs of organic disease include localized tenderness in right upper or lower quadrants, localized fullness or palpable mass, hepatomegaly, splenomegaly, costovertebral angle tenderness or perianal abnormalities. Anemia, leukocytosis, thrombocytosis and elevated C-reactive protein (CrP) are frequently seen in inflammatory diseases. A sample to check the stool for blood is obtained during the rectal examination and the result is often confirmed with three additional outpatient samples. Additional laboratory investigations are chosen on the basis of the history and physical examination. These investigations include stool testing for parasites or Giardia antigen, a chemistry profile to evaluate liver enzymes, serum amylase, lipase and serology testing for celiac disease and H. Carbohydrate breath testing for lactose intolerance is indicated if empiric dietary interventions are inconclusive. Mesenteric lymph nodes should be considered as significant only when they are more than 10 mm in size. The syndrome of mesenteric adenitis causes colicky pain in the right lower quadrant and can closely mimic appendicitis. It also provides information about possible pelvic or ovarian disease in adolescent girls. Blood pressure is recorded and the weight-for-height is plotted to assess malnutrition or obesity. The physician should percuss the liver span, document the spleen and kidney size and determine the influence of leg motion (psoas sign). A barium contrast of the UgI tract may be useful to rule out malrotation especially if episodes of colicky abdominal pain are associated with vomiting. Barium enema is indicated primarily in the context of 547 obstruction or chronic intussusception. The yield is maximal in patients with epigastric pain, symptoms of ger or positive celiac screen. Biopsies of the esophagus, gastric antrum and duodenum may be indicated even in the absence of macroscopic disease to identify microscopic diagnostic features of reflux esophagitis, H. Colonoscopy has replaced barium enema in the evaluation of pain with chronic diarrhea or bleeding. Two factors are of primary importance in the perception of functional abdominal pain: 1. The pathophysiology of adult functional disorders such as irritable bowel syndrome has been extensively studied. Serotonin has been found to be decreased in the enterocromaffin cells of the rectal mucosa. The primary goal of therapy is not eradication of pain but resumption of a normal lifestyle with regular school attendance, extracurricular activities and a normal sleep pattern. Parents must be discouraged from reinforcing the symptoms by allowing the child to miss school and paying too much positive attention to the pain. It is important to identify, clarify and reverse possible physical and psychological stress factors that may exacerbate or maintain pain. Dietary interventions that have been tried with variable benefit include increasing dietary fiber intake. Psychological approaches including cognitive behavioral therapy and gut-directed hypnotherapy are increasingly being used with success in children with functional abdominal pain. The pain occurs during daytime and is unrelated to food intake, activity levels or stool pattern. The episodes resolve spontaneously and the child functions normally in between bouts of pain. The physical examination is striking for its normality, and the screening laboratory investigations are by definition normal. The family history is often positive for functional bowel disease such as irritable bowel syndrome. As they have a high rate of spontaneous remission, a stepwise approach is necessary with the initial step being education, alleviation of stress factors and diet modifications. Children with chronic pain are a diagnostic and therapeutic challenge as they often have two or more different pain diagnoses (like tension type headache, migraine and musculoskeletal pain) and they are prone to misuse of analgesics and are severely impaired. Adequate treatment and referral are essential to interrupt progression of the chronic pain process into adulthood. Chronic abdominal pain in children: a clinical report of the American Academy of Pediatrics and the North American Society for Pediatric gastroenterology, Hepatology and Nutrition. Characteristics of highly impaired children with severe chronic pain: a 5-year retrospective study on 2249 pediatric pain patients. Many disease processes, which may or may not be primarily hepatic, cause liver enlargement. The liver occupies most of the right upper quadrant of the abdomen attached to the lower surface of the diaphragm. The liver accounts for 1/20th of body weight in neonates and 1/50th of that of the adult. In infancy and early childhood, the liver and spleen may be felt normally up to 3 cm below the costal margin. In chest diseases, such as pneumothorax, bronchiolitis and emphysema and in chest deformities such as in rickets, the liver may be pushed down giving an "apparent" hepatomegaly. Hence, percussion for the upper border of the liver is important in the assessment of hepatomegaly especially to recognize "pushed down liver" which should be differentiated from true hepatomegaly. The abdomen should also be palpated for other masses and for enlargement of the spleen. Enlarged liver with firm to hard consistency and sharp margin usually implies cirrhosis or fibrosis. Soft, enlarged and tender liver occurs in inflammatory and congestive processes such as viral hepatitis and congestive heart failure. An isolated mass felt in an otherwise normal liver or an asymmetric enlargement may suggest tumor or cyst. Size, Margin, Contour and Consistency of Liver the liver is to be palpated like any routine palpation of abdomen from left iliac fossa in an anticlockwise manner. Sometimes right subcostal palpation by cupping method from above especially for shrunken firm to hard liver will be useful. Besides the size of the liver, the consistency and character of the surface and margin should be evaluated. Common pediatric conditions such as protein energy malnutrition, anemia and tuberculosis can cause significant hepatomegaly. History and general clinical examination can give important clues to these diseases. Age of the Child the age of onset is an important clue to the etiology of pediatric liver disease (Table 9. Drowsiness (precoma, coma) and gastrointestinal hemorrhage (hematemesis, melena) are ominous signs of impending hepatic failure (Table 9. The scheme of investigations should be directed judiciously at detecting the etiology and the mechanism of hepatomegaly as also the extent and severity of the disease. Benign hepatomegaly associated with common febrile illnesses of children usually recedes completely within a few weeks. Pediatric gastroenterology subspecialty chapter of Indian Academy of Pediatrics document. The approach to the child with liver disease: differential diagnosis and useful investigations. They should be interpreted with the background of the clinical history and physical findings to yield meaningful conclusions. In addition to the initial and basic urine tests, urine tests for bilirubin pigment, bile salt and urobilinogen are also done. Blood glucose and serum ammonia are also relevant with useful clinical implications. No single test alone is sufficient to provide complete estimate of the function of liver. The type of jaundice can be categorized as direct, indirect or mixed hyperbilirubinemia. Also, in conditions like rickets and intestinal obstruction, the levels may be markedly raised. It is not very helpful in acute conditions but in cases of jaundice it helps to identify if there is an underlying chronic liver disease. In acute conditions, albumin and total proteins may be transiently reduced but subsequently it normalizes. Ultrasonogram of abdomen this is the simplest and cheapest modality for imaging the liver and usually suffices in most cases. It provides information regarding organomegaly, any lesions, masses, portal flow, collaterals, presence of ascites, obstructive causes, etc. The presence of dilated intrahepatic radicals indicates that the source of obstruction is extrahepatic. This test is done along with a control since the value can differ slightly from lab to lab. However for diffuse, infiltrative lesions, like storage disorders it is not very useful. The arterial and portal phases can help differentiate hemangiomas from other tumors. Children with severe cholestatic jaundice are primed with phenobarbitone and imaging is done. The hepatocytes actively take up the dye and promptly secrete it into the biliary tree. In cases of neonatal hepatitis, the uptake itself is slow but excretion can be detected. The test involves the use of a specialized endoscope which has an ultrasonic transducer at the tip and helps in imaging the organs from inside the bowel. In addition, it helps image the left lobe of liver, pancreas and any submucous bulges. It also offers the advantage of being able to biopsy any suspicious lesion as well as drainage of pseudocyst of pancreas up to 6 cm distance. Though there are many tests available for investigating and imaging the hepatobiliary tree, a judicious combination of these tests in a logical manner will help clinch the diagnosis in most cases, rather than doing all the tests at once. Recently non-immunologic genes have also been recognized to influence its clearance. Acute hepatitis is a self-limiting illness characterized by an abrupt onset of symptoms with the inflammation or necrosis usually resolving completely within 4 weeks. When there is a continuing inflammation beyond 6 months (in children 3 months) it is termed as chronic hepatitis. The recovery is heralded by the disappearance of the constitutional symptoms, improvement in appetite and decrease in size of the liver. The necroinflammatory inflammation is believed to be an immune response of the host to the hepatitis A virus. Immune-mediated extrahepatic manifestations such as maculopapular or urticarial rash, migratory arthritis, nephritis and papular acrodermatitis of childhood (Gianotti-Crosti syndrome) may be present. The symptoms of malaise, fatigue and jaundice are mild but the transaminases are elevated for a longer period.

Syndromes

• Having problems eating
• Take nonsteroidal anti-inflammatory medications (for example, ibuprofen).
• Sneezing
• Anemia
• Nervousness
• A medicine called danazol (Danocrine) taken by mouth
• Lactose-hydrogen breath test

This may involve replacing a defective gene with a functional version womens health blogs cheap sarafem 20 mg fast delivery, enhancing the baseline expression level of a gene or menopause and weight loss discount sarafem 20 mg without prescription, contrastingly women's health issues who buy sarafem mastercard, suppressing the expression of genes that may contribute to the pathologic process menstruation for dummies buy sarafem 20mg. As the field of gene therapy continues its rapid advancement pregnancy test order sarafem 20mg line, it is likely that it will eventually become a standard clinical regimen women's health clinic riverside hospital order 10 mg sarafem visa. Gene therapy has been most successfully used to treat certain cases of primary immune deficiency disorders. Elements of morphology: standard terminology for the lips, mouth, and oral region. Clinical utility of microarrays: current status, existing challenges and future outlook. If a gene gets mutated the enzyme will not be synthesized or will lose its function and the disease will manifest. The enzymes are required in a very small quantity and hence most of the genetic metabolic disorders manifest only when both copies of a gene for an enzyme are mutated or abnormal. That is why most of the genetic metabolic disorders are inherited in autosomal recessive fashion. That means both the parents of an affected individual are clinically normal but carry one mutated copy of the gene in concern, i. The rare cases of manifesting female are due to unusual situations like female with Turner syndrome (having only one X chromosome) or non-random Lyonization leading to preferential inactivation of X chromosome with normal copy of gene in disproportionately more cells of the body. The disorder was alkaptonuria, in which nappies of children suffering from the disease turned black on exposure to air. Later on inborn errors of various pathways involving metabolism of amino acids, carbohydrates, fatty acid, lipids, trace minerals and various complex molecules like lipoproteins, mucopolysaccharides and oligosaccharides were identified. In lysosomal storage disorders the intracellular accumulation of complex molecules due to lack of their degradation leads to signs and symptoms of the disease. However, many disorders like hyperlipidemias, Fabry disease, some mitochondrial disorders may present in later part of life. Adult onset variants of diseases clinically manifesting during infancy like Tay Sachs disease, flow chart 14. On the left is an enzyme catalyzing the step and on the right is the disease caused by deficiency of the enzyme 870 vip. Manifestations can be intermittent as well depending on exposure to offending agent as in porphyria, some cases of urea cycle disorder. Some disorders have intermittent acute presentation due to exposure to precipitating causes like high protein diet or fasting. GeneTics diagnosis Inborn errors of metabolism are many, rare and the manifestations are overlapping. Clinical diagnosis is not possible and diagnostic tests are many times not easily available. History and clinical examination are extremely important to search for diagnostic clues. For example, in a hypotonic infant with enlarged liver, presence of cataract, punctate ossifications of epiphyses lead to the diagnosis of Zellweger syndrome. Bone marrow examination may help in diagnosis of Gaucher and Niemann Pick disease. However, confirmation of diagnosis is needed using specialized tests like enzyme assays, metabolite profile of plasma and urine using tandem mass spectrometry and gas chromatography mass spectrometry. Quantification of very long chain fatty acids and plasmalogen is necessary for diagnosis of peroxisomal disorders. Specific enzyme assays on white blood cells or cultured fibroblasts are necessary for confirmation of diagnosis of lysosomal storage disorders. Management Successful treatments with various strategies have been available for some disorders for decades (Table 14. Over last few decades, the number of disorders for which partial improvement is possible is increasing. Enzyme replacement therapy cannot prevent neurological involvement yet as the modified enzymes cannot cross the blood brain barrier. Similarly, liver transplantation to replace the damaged liver or as a source of enzyme is successful in some disorders. Long-term success of gene therapy in more than 10 children with immunodeficiency disorder has not 872 figure 14. Accurate diagnosis of the affected patient in the family is the prerequisite for prenatal diagnosis. Hence, even if the child appears to be too serious to survive; all attempts should be made to confirm the diagnosis. Deoxyribonucleic acid test for mutation in the chorionic villi is the best option for prenatal diagnosis. But, for lack of mutation detection, metabolite estimation in amniotic fluid or enzyme assay on chorionic villi can be used for prenatal diagnosis. Deoxyribonucleic acid based mutation analysis has very minimal error rate as compared to prenatal diagnosis using biochemical tests. Still there is limited understanding of pathology about how phenylalanine metabolites lead to neurological abnormalities. The recent treatment with biopterin as a molecule which modulates folding of protein molecule and improves function of mutated protein opens up similar options for many other genetic disorders caused by mutations leading to abnormal folding and hence decreased function of the protein. However, soon it became obvious 874 that the treatment unless started during neonatal period could not prevent mental retardation. But, it soon became obvious that if diet therapy is relaxed after childhood hyperphenylalanemia leads to dysfunction of adult brain and lifelong continued control of phenylalanine levels in blood is necessary. Strict diet control is also necessary during pregnancy as hyperphenylalanemia invariably leads to microcephaly, mental retardation and cardiac malformation in the baby. Affected children present with hepatomegaly and episodes of seizures, sweating and tachycardia due to hypoglycemia. In appropriate clinical setting enzyme assay and mutation detection is not necessary for starting treatment. Treatment is simple with frequent day time feeds and a diet rich in uncooked corn starch (to release glucose slowly) at night to prevent hypoglycemia. It is caused by mutation in glucose6-phosphate transporter gene, which is an important component of glucose-6-phosphate activity. Manifestations in females are usually intermittent with episodes of vomiting, altered sensorium associated with hyperammonemia. Clinical features include coarse facies, joint contractures, thickened skin, short stature, corneal clouding and mental retardation. There is development delay, hypotonia, macroglosia, cardiomegaly and congestive cardiac failure. The diagnosis is confirmed by enzyme assay on lymphocytes or fibroblasts or mutation detection. It has shown remarkable results in the form of improvement in joint contractures, decrease in the sizes of liver and spleen. However, it is not useful if the patient has classic Hurler variety; because the recombinant enzyme cannot cross blood brain barrier. There may be any of these features in isolation or in combination Hypotonia Development delay Spasticity Ataxia Leukodystrophy Seizures Myopathy Deafness Loss of vision Ptosis Microcephaly Acidosis Myoglobinuria Cardiomyopathy Diabetes Hepatomegaly Hypoglycemia Hepatocellular dysfunction Gastrointestinal symptoms Anemia Endocrinopathies Nephrotic syndrome respiratory chain disorders Oxidative phosphorylation, i. The oxidative reaction takes place in mitochondria giving the name "mitochondrial disorders". Hence, mitochondrial (also known as maternal) and autosomal modes of inheritance are observed. Symptoms involving multiple systems strongly suggest the possibility of mitochondrial disorder. Susceptibility to develop deafness on exposure to aminoglycoside is also known to be caused by a mutation in mitochondrial genome. Involvement of multiple organs with increased lactate, presence of ragged red fibers in muscle biopsy may support the diagnosis. The enzyme assay on serum showed very low hexosaminidase A value confirming the diagnosis of Tay Sachs disease. Tay Sachs disease is autosomal recessively transmitted and hence, the risk of recurrence of the same disorder in the next pregnancy of the mother of this affected child will be 25% or 1 in 4. The chorionic villus sample was collected by ultrasonographically guided procedure. With this report of prenatal diagnosis the family decided to terminate the pregnancy. The family was informed that the chance that the fetus will be unaffected in the next pregnancy is 75%. However, prenatal diagnosis needs to be done in each subsequent pregnancy to avoid the birth of child with Tay Sachs disease. The family was also informed that avoidance of further consanguineous marriages in their extended family may help to avoid recurrences. It will be advisable to test their relatives for carrier status for Tay Sachs disease and genetic counseling should be offered to them. GeneTics case ii A non-consanguineous couple was referred for genetic counseling and prenatal diagnosis. They had a daughter of 17 months with spasticity and scissoring of both lower limbs. The child was normal till 1 year of age and had started standing and walking with support. Red line shows the extra 4 nucleotides inserted in the patient (Courtesy: Dr Parag Tamhankar) 877 vip. She recovered with supportive treatment and was advised tandem mass spectrometry of plasma to study acylcarnitine profile. Later the enzyme assays may be needed to confirm the type of fatty acid oxidation defect. These groups of disorders are included in newborn screening programs of developed countries. The symptoms were so incapacitating that he had stopped going to school and was going from doctor to doctor in search of cure. There was no positive family history there were no signs and symptoms of infection, autoimmune disorder. Enzyme assay for alpha galactosidase A showed low level and confirmed the diagnosis of Fabry disease. Fabry disease is an X-linked disease and difficult to diagnose because of vague complaints and lack of signs. In addition to neuropathic pain, there is increased risk of early stroke, cardiomyopathy and development of chronic renal failure. Enzyme replacement therapy with recombinant enzyme has become available since 2003. It not only improves quality of life by reducing pain but is also supposed to decrease risk of involvement of heart, brain and kidneys. Enzyme replacement therapy increases excretion of ceramide deposited in blood vessels and various organs, thus it prevents organ damage. For counseling and prenatal diagnosis, confirmation of the diagnosis by assay of aryl-sulphatase A enzyme on the white blood cells of the proband (affected child in the family) will be necessary. It was informed to the family that there is small error rate of prenatal diagnosis test. She was alright a week ago and then developed diarrhea and was given intravenous fluids. She told that during childhood she was frequently hospitalized with documented attacks of hypoglycemia. Follow-Up His brother was brought with complaints of short stature and chronic diarrhea; the symptoms could be due to Fabry disease. Through Fabry disease is an X-linked recessive disease, many of the carrier females show manifestation of varying severity. Discussion With this past history and family history the most likely diagnosis is fatty acid oxidation defects. There are many types of fatty acid oxidation defects and the treatment is to prevent fasting and carnitine supplementation during 878 vip. His blood sample was collected for biotinidase assay and he was started on tablet biotin 10 mg/day. If treated since neonatal period the outcome for neurological function is very good. Hence, the disorder is included in the newborn screening program of many countries. This child showed dramatic improvement and was informed by parents that he was developing normally. Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Discussion It is important to be aware of rare genetic disorder so that these disorders can be suspected in appropriate situations. Presence of alopecia and seizures suggested the diagnosis of biotinidase deficiency. Even if the disorder is treatable for successful long-term treatment, patient education and compliance are important. Communication with local primary care physician and his/her support can play an important role in such situations. Biotinidase deficiency is also an autosomal recessive disorder; and the family can be offered prenatal diagnosis or new born screening and treatment of an affected child. The present day adolescent is considered to be more knowledgeable about world affairs, thanks to the onslaught of the media, so much so many questions needed for any special program for adolescents. On the other hand, some feel disillusioned about the way things are going and hence, point out the futility of any intervention program at this level. Adolescence is also that period in our lives where contradictions are the rule and not the exception.

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