Scarlet Fever

Scarlet Fever
Scarlet fever is an upper respiratory tract infection associated with a characteristic rash, which is caused by an infection with pyrogenic exotoxin (erythrogenic toxin)–producing Group A Streptococcus in individuals who do not have antitoxin antibodies. It is now encountered less commonly and is less virulent than in the past, but the incidence is cyclic, depending on the prevalence of toxin-producing strains and the immune status of the population. The modes of transmission, age distribution, and other epidemiologic features are otherwise similar to those for GAS pharyngitis.

It is characterized by:

• Sore throat
• Fever
• Bright red tongue with a "strawberry" appearance
• Characteristic rash, which:

• is fine, red, and rough-textured; it blanches upon pressure.
• appears 12–48 hours after the fever.
• generally starts on the chest, armpits, and behind the ears.
• spares the face (although some circumoral pallor is characteristic).
• is worse in the skin folds. These Pastia lines (where the rash runs together in the armpits and groin) appear and can persist after the rash is gone.
• may spread to cover the uvula.

The rash begins to fade three to four days after onset and desquamation (peeling) begins. "This phase begins with flakes peeling from the face. Peeling from the palms and around the fingers occurs about a week later. Peeling also occurs in axilla, groin, and tips of the fingers and toes


Rash:
The rash appears within 24–48 hr after onset of symptoms, although it may appear with the 1st signs of illness . It often begins around the neck and spreads over the trunk and extremities. It is a diffuse, finely papular, erythematous eruption producing a bright red discoloration of the skin, which blanches on pressure. It is often more intense along the creases of the elbows, axillae, and groin. The skin has a goose-pimple appearance and feels rough. The face is usually spared, although the cheeks may be erythematous with pallor around the mouth. After 3–4 days, the rash begins to fade and is followed by desquamation, 1st on the face, progressing downward, and often resembling that seen subsequent to a mild sunburn. Occasionally, sheetlike desquamation may occur around the free margins of the fingernails, the palms, and the soles.
Pharynx:
Examination of the pharynx of a patient with scarlet fever reveals essentially the same findings as with GAS pharyngitis.
Tongue:
In addition, the tongue is usually coated and the papillae are swollen. After desquamation, the reddened papillae are prominent, giving the tongue a strawberry appearance.


Diagnosis:
Typical scarlet fever is not difficult to diagnose; however, the milder form with equivocal pharyngeal findings can be confused with viral exanthems, Kawasaki disease, and drug eruptions. Staphylococcal infections are occasionally associated with a scarlatiniform rash. A history of recent exposure to a GAS infection is helpful. Identification of GAS in the pharynx confirms the diagnosis, if uncertain.
Treatment:
the treatment and course of scarlet fever are no different from those of any strep throat. In case of penicillin allergy, clindamycin or erythromycin can be used with success. Patients should no longer be infectious after taking antibiotics for 24 hours. People who have been exposed to scarlet fever should be watched carefully for a full week for symptoms, especially if aged 3 to young adult. It is very important to be tested (throat culture) and if positive, seek treatment.

Read more...

Poliomyelitis

Poliovirus infections with wild-type virus may follow 1 of several courses: inapparent infection, which occurs in 90–95% of cases and causes no disease and no sequelae; abortive poliomyelitis; nonparalytic poliomyelitis; or paralytic poliomyelitis. Paralysis, if it occurs, appears 3–8 days after the initial symptoms.

Incubation Period:

The incubation period of poliovirus from contact to initial clinical symptoms is usually considered to be 8–12 days, with a range of 5–35 days.

Abortive Poliomyelitis.

In about 5% of patients, a nonspecific influenza-like syndrome occurs 1–2 wk after infection, which is termed abortive poliomyelitis. Vomiting occurs irregularly. The physical examination may be normal or may reveal nonspecific pharyngitis, abdominal or muscular tenderness, and weakness.
Nonparalytic Poliomyelitis.
In about 1% of patients infected with wild-type poliovirus, signs of abortive poliomyelitis are present, as are more intense headache, nausea, and vomiting, as well as soreness and stiffness of the posterior muscles of the neck, trunk, and limbs. Fleeting paralysis of the bladder and constipation are frequent. Approximately ? of these children have a short symptom-free interlude between the 1st phase (minor illness) and the 2nd phase (CNS disease or major illness). Nuchal and spinal rigidity are the basis for the diagnosis of nonparalytic poliomyelitis during the 2nd phase.
Physical examination reveals nuchal-spinal signs and changes in superficial and deep reflexes. Gentle forward flexion of the occiput and neck will elicit nuchal rigidity. Head drop is demonstrated by placing the hands under the patient’s shoulders and raising the trunk. True nuchal rigidity will persist during this maneuver. In the early stages the reflexes are normally active and remain so unless paralysis supervenes. Changes in reflexes, either increased or decreased, may precede weakness by 12–24 hr. The superficial reflexes, the cremasteric and abdominal reflexes, and the reflexes of the spinal and gluteal muscles are usually the 1st to diminish. The spinal and gluteal reflexes may disappear before the abdominal and cremasteric reflexes. Changes in the deep tendon reflexes generally occur 8–24 hr after the superficial reflexes are depressed and indicate impending paresis of the extremities. Tendon reflexes are absent with paralysis. Sensory defects do not occur in poliomyelitis.
Paralytic Poliomyelitis.
Paralytic poliomyelitis develops in about 0.1% of persons infected with poliovirus, causing 3 clinically recognizable syndromes that represent a continuum of infection differentiated only by the portions of the CNS most severely affected.
These are (1) spinal paralytic poliomyelitis, (2) bulbar poliomyelitis, and (3) polioencephalitis.
Spinal paralytic poliomyelitis may occur as the 2nd phase of a biphasic illness, the 1st phase of which corresponds to abortive poliomyelitis. Severe muscle pain is present, and sensory and motor phenomena (e.g., paresthesia, hyperesthesia, fasciculations, and spasms) may develop. On physical examination the distribution of paralysis is characteristically spotty. Single muscles, multiple muscles, or groups of muscles may be involved in any pattern. Within 1–2 days, asymmetric flaccid paralysis or paresis occurs. Involvement of 1 leg is most common, followed by involvement of 1 arm. To detect mild muscular weakness, it is often necessary to apply gentle resistance in opposition to the muscle group being tested. Examination at this point may reveal nuchal stiffness or rigidity, muscle tenderness, initially hyperactive deep tendon reflexes (for a short period) followed by absent or diminished reflexes, and paresis or flaccid paralysis. In the spinal form there is weakness of some of the muscles of the neck, abdomen, trunk, diaphragm, thorax, or extremities. Sensation is intact; sensory disturbances, if present, suggest a disease other than poliomyelitis.


The paralytic phase of poliomyelitis is extremely variable; some patients progress during observation from paresis to paralysis, whereas others recover, which may be slow or rapid. The extent of paresis or paralysis is directly related to the extent of neuronal involvement; paralysis occurs if more than 50% of the neurons supplying the muscles are destroyed. Paralysis of the lower limbs is often accompanied by bowel and bladder dysfunction ranging from transient incontinence to paralysis with constipation and urinary retention.
The onset and course of paralysis are variable in developing countries. The biphasic course is rare and typically presents as a single phase in which prodromal symptoms and paralysis occur in a continuous fashion. In developing countries, where a history of intramuscular injections precedes paralytic poliomyelitis in about 50–60% of patients, patients may present initially with fever and paralysis (provocation paralysis). Occasionally spasm and increased muscle tone with a transient increase in deep tendon reflexes occur in some patients, whereas in most patients flaccid paralysis occurs abruptly. Once the temperature returns to normal, progression of paralytic manifestations stops. Lack of improvement from paralysis within the 1st several weeks or months after onset is usually evidence of permanent paralysis.
Bulbar poliomyelitis may occur as a clinical entity without apparent involvement of the spinal cord. Infection is a continuum, and designation of the disease as bulbar implies only dominance of the clinical manifestations by dysfunctions of the cranial nerves and medullary centers. The clinical findings seen with bulbar poliomyelitis with respiratory difficulty (other than paralysis of extraocular, facial, and masticatory muscles) include (1) nasal twang to the voice or cry caused by palatal and pharyngeal weakness (hard-consonant words such as “cookie” or “candy” bring this out best); (2) inability to swallow smoothly, resulting in accumulation of saliva in the pharynx, indicating partial immobility (holding the larynx lightly and asking the patient to swallow will confirm such immobility); (3) accumulated pharyngeal secretions, which may cause irregular respirations that appear interrupted and abnormal even to the point of falsely simulating intercostal or diaphragmatic weakness; (4) absence of effective coughing, shown by constant fatiguing efforts to clear the throat; (5) nasal regurgitation of saliva and fluids as a result of palatal paralysis, with inability to separate the oropharynx from the nasopharynx during swallowing; (6) deviation of the palate, uvula, or tongue; (7) involvement of vital centers in the medulla, which manifest as irregularities in rate, depth, and rhythm of respiration; as cardiovascular alterations, including blood pressure changes (especially increased blood pressure), alternate flushing and mottling of the skin, and cardiac arrhythmias; and as rapid changes in body temperature; (8) paralysis of 1 or both vocal cords, causing hoarseness, aphonia, and ulti mately asphyxia unless this is recognized by laryngoscopy and managed by immediate tracheostomy; and (9) the rope sign, an acute angulation between the chin and larynx caused by weakness of the hyoid muscles (the hyoid bone is pulled posteriorly, narrowing the hypopharyngeal inlet).
Uncommonly, bulbar disease may culminate in an ascending paralysis (Landry type), in which there is progression cephalad from initial involvement of the lower extremities. This kind of bulbar disease may be rapidly fatal.
The course of bulbar disease is variable; some patients die as a result of extensive, severe involvement of the various centers in the medulla; others recover partially but require ongoing respiratory support, and others recover completely. Cranial nerve involvement is seldom permanent. Atrophy of muscles may be evident, patients immobilized for long periods may develop pneumonia, and renal stones may form as a result of hypercalcemia and hypercalciuria secondary to bone resorption.
Seizures, coma, and spastic paralysis with increased reflexes may be observed. Irritability, disorientation, drowsiness, and coarse tremors are often present with peripheral or cranial nerve paralysis that coexists or ensues. Paralytic poliomyelitis with ventilatory insufficiency results from several components acting together to produce ventilatory insufficiency resulting in hypoxia and hypercapnia. Because respiratory insufficiency may develop rapidly, close continued clinical evaluation is essential. Despite weakness of the respiratory muscles, the patient may respond with so much respiratory effort associated with anxiety and fear that overventilation may occur at the outset, resulting in respiratory alkalosis. Such effort is fatiguing and contributes to respiratory failure.
Pure spinal poliomyelitis with respiratory insufficiency involves tightness, weakness, or paralysis of the respiratory muscles (chiefly the diaphragm and intercostals) without discernible clinical involvement of the cranial nerves or vital centers that control respiration, circulation, and body temperature. The cervical and thoracic spinal cord segments are chiefly affected. Pure bulbar poliomyelitis involves paralysis of the motor cranial nerve nuclei with or without involvement of the vital centers. Involvement of the 9th, 10th, and 12th cranial nerves results in paralysis of the pharynx, tongue, and larynx with consequent airway obstruction. Bulbospinal poliomyelitis with respiratory insufficiency affects the respiratory muscles and results in coexisting bulbar paralysis.


The clinical findings associated with involvement of the respiratory muscles include (1) anxious expression; (2) inability to speak without frequent pauses, resulting in short, jerky, “breathless” sentences; (3) increased respiratory rate; (4) movement of the ala nasi and of the accessory muscles of respiration; (5) inability to cough or sniff with full depth; (6) paradoxical abdominal movements caused by diaphragmatic immobility due to spasm or weakness of 1 or both leaves; and (7) relative immobility of the intercostal spaces, which may be segmental, unilateral, or bilateral. When the arms are weak, and especially when deltoid paralysis occurs, there may be impending respiratory paralysis because the phrenic nerve nuclei are in adjacent areas of the spinal cord. Observation of the patient’s capacity for thoracic breathing while the abdominal muscles are splinted manually indicates minor degrees of paresis.

Read more...

Viral Hepatitis A

Hepatitis A

How is hepatitis A spread?

Hepatitis A is spread primarily through food or water contaminated by feces from an infected person. Rarely, it spreads through contact with infected blood.
Causes
The hepatitis A virus is found in the stools (feces) of people with hepatitis A. It is transmitted when a person puts something in his or her mouth that has been contaminated with the feces of an affected person. This is referred to as fecal-oral transmission.
Symptoms
Symptoms of hepatitis A usually develop between 2 and 6 weeks after infection. The symptoms are usually not too severe and go away on their own, over time. The most common symptoms are as follows:

• Nausea
• Vomiting
• Diarrhea, especially in children
• Low-grade fever
• Loss of appetite
• Rash
• Tiredness, fatigue
• Jaundice - A yellow discoloration of the skin and the whites of the eyes
• Urine is dark brownish in color, like cola or strong tea.
• Pain in area of liver - On the right side of the abdomen, just under the rib cage

Who is at risk for hepatitis A?

People most likely to get hepatitis A are

• international travelers, particularly those traveling to developing countries
• people who live with or have sex with an infected person
• people living in areas where children are not routinely vaccinated against hepatitis A, where outbreaks are more likely
• day care children and employees, during outbreaks
• men who have sex with men
• users of illicit drugs

How can hepatitis A be prevented?

The hepatitis A vaccine offers immunity to adults and children older than age 1. The Centers for Disease Control and Prevention recommends routine hepatitis A vaccination for children aged 12 to 23 months and for adults who are at high risk for infection. Treatment with immune globulin can provide short-term immunity to hepatitis A when given before exposure or within 2 weeks of exposure to the virus. Avoiding tap water when traveling internationally and practicing good hygiene and sanitation also help prevent hepatitis A.

What is the treatment for hepatitis A?

Hepatitis A usually resolves on its own over several weeks

Read more...

Rabies video

Rabies is a preventable viral disease of mammals most often transmitted through the bite of a rabid animal.

The rabies virus infects the central nervous system, ultimately causing disease in the brain and death. The early symptoms of rabies in people are similar to that of many other illnesses, including fever, headache, and general weakness or discomfort. As the disease progresses, more specific symptoms appear and may include insomnia, anxiety, confusion, slight or partial paralysis, excitation, hallucinations, agitation, hypersalivation (increase in saliva), difficulty swallowing, and hydrophobia (fear of water). Epidemiology

Animals most commonly associated with the transmission of rabies infection include bats, skunks, raccoons, and foxes.

Rabies is rarely or never transmitted by squirrels, chipmunks, rats, mice, guinea pigs, gerbils, hamsters, or rabbits.

Effects of Rabies 

Clinical Presentation

Prodromal phase (2–10 days): fever, headache, photophobia, anorexia, sore throat, musculoskeletal pain, itching, pain, and tingling at the site of the bite

Acute neurologic phase (2–30 days): delirium, paralysis, hydrophobia, coma, and respiratory arrest

Laboratory Studies

The virus may be isolated from the saliva, and viral nucleic acid may be detected in infected tissues.

Treatment

Scratches or bites should be thoroughly irrigated with soap and water.

Rabies immune globulin (RIG) should be given concurrently with the first dose of vaccine. Rabies vaccine should not be administered in the same part of the body used to administer RIG.

If a bat is discovered in a room with a sleeping, intoxicated, or very young person, rabies prophylaxis is recommended even if the person does not recall a bite.

Domesticated animals that are captured should be observed closely by local animal control officials for 10 days for evidence of rabies. No case of human rabies has been attributed when an animal remained healthy throughout this confinement period.

Wild animals should be immediately euthanized for examination of the brain by local health officials

Hydrophobia in Rabies Video

Hydrophobia in a child  with rabiesVideo

Read more...

Fragile X Syndrome in children

Fragile X affection (FXS), or Martin-Bell syndrome, is a abiogenetic affection which after-effects in a spectrum of appropriate concrete and bookish limitations and affecting and behavioral actualization which ambit from astringent to balmy in manifestation.

Frequency

Conservative estimates address that brittle X affection affects about 1 in 4000 males and 1 in 8000 females.

Pathology

The affection of brittle X affection are acquired by abnormalities in DNA on the X chromosome. Examination of the karyotype reveals a binding at the end of the continued arm of the X chromosome, followed by a attenuate fiber of abiogenetic material. The binding and attenuate fiber accord the actualization of a brittle allocation of the X chromosome. Sequencing of the abiogenetic actual reveals a repeating abject brace leash that is amenable for the syndrome.

Symptoms and Signs

People with brittle X affection accept physical, cerebral and behavioral abnormalities. They accept large, angled ears; a arresting button and forehead; a aerial angled palate; and, in postpubertal males, macroorchidism. The joints may be hyperextensible, and affection ache (mitral valve prolapse) may occur. Cerebral abnormalities may accommodate balmy to abstinent brainy retardation. Actualization of autism may develop, including adamant accent and behavior, poor eye contact, and amusing anxiety. Women may acquaintance menopause in their mid-30s.

Physical phenotype

Arresting aerial (one or both)

Continued face (vertical maxillary excess)

High-arched aficionado (related to the above)

Hyperextensible feel joints

Double-jointed thumbs

Flat feet

Soft skin

Larger testes in men

Low beef tone. 

Transmission

Fragile X syndrome is an X-linked dominant condition with variable expressivity and possibly reduced penetrance.

Females have two X-chromosomes and thus have an increased probability of having a working FMR1 allele. Males with the fragile X cannot transmit it to any of their sons (since males contribute a Y-chromosome, not an X, to their male offspring), but will transmit the premutation to all of their daughters, as males contribute their X to all of their daughters. Males never transmit their full mutation (males with full mutations in their blood have premutations in their sperm), and expansion to full mutations never occurs through paternal transmission.

Females carrying one copy of the fragile X can transmit it to their sons or daughters; in this case each child has a 50% chance of inheriting the fragile X. Sons who receive the fragile X are at high risk of intellectual disability.

Diagnosis

Fragile X affection is frequently not doubtable until academy age or adolescence, depending on the severity of the symptoms. Boys with autism and brainy amentia should be activated for brittle X syndrome. DNA testing can ascertain aberrant DNA on the brittle X chromosome. The greater the cardinal of aberrant repetitions of DNA found, the added acceptable the adolescent will accept symptoms.

Treatment

Early intervention, including accent and accent analysis and anatomic therapy, can advice accouchement with brittle X affection to aerate their abilities. Stimulants, antidepressants, and antianxiety drugs may be benign for some children.

Read more...

autistic disorder (autism)

Autism is diagnosed when the patient meets the criteria in the Diagnostic and Statistical Manual of Mental Disorders, 4th edition – Text Revision. At least six characteristics from the following three categories must be present, including at least two from the social interaction category and one each from the communication and patterns categories.
Social interaction
Patient displays impairment in social interaction, as shown by at least two of the following:marked impairment in the use of multiple nonverbal behaviors, such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction
    failure to develop peer relationships appropriate to developmental level
    no spontaneous sharing of enjoyment, interests, or achievements with others
    lack of social or emotional reciprocity
    gross impairment in ability to make peer friendships.
Communication
Patient displays impairment in communication, as shown by at least one of the following:
    delay in or total lack of development of spoken language
    in individuals with adequate speech, marked impairment in initiating or sustaining a conversation with others
    stereotyped and repetitive use of language or idiosyncratic language
    lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level.

Patterns
Patient displays restricted, repetitive, and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following:
 encompassing preoccupation with one or more stereotyped and restricted patterns of interest that’s abnormal either in intensity or focus apparently inflexible adherence to specific nonfunctional routines or rituals stereotyped and repetitive motor mannerisms persistent preoccupation with parts of objects.

Additional criteria
Patient displays delays or abnormal functioning in at least one of the following before age 3:
    social interaction
    language as used in social communication
    symbolic or imaginative play.

The disturbance isn’t better accounted for by Rett’s syndrome or childhood disintegrative disorder

Social development

Social deficits analyze autism and the accompanying autism spectrum disorders (ASD; see Classification) from added adorning disorders.[20] Bodies with autism accept amusing impairments and generally abridgement the intuition about others that abounding bodies booty for granted. Noted autistic Temple Grandin declared her disability to accept the amusing advice of neurotypicals, or bodies with accustomed neural development, as abrogation her activity "like an anthropologist on Mars".

Unusual amusing development becomes credible aboriginal in childhood. Autistic breed appearance beneath absorption to amusing stimuli, smile and attending at others beneath often, and acknowledge beneath to their own name. Autistic toddlers alter added conspicuously from amusing norms; for example, they accept beneath eye acquaintance and about-face taking, and do not accept the adeptness to use simple movements to accurate themselves, such as the absence to point at things. Three- to five-year-old autistic accouchement are beneath acceptable to affectation amusing understanding, access others spontaneously, imitate and acknowledge to emotions, acquaint nonverbally, and booty turns with others. However, they do anatomy accessories to their primary caregivers.[25] Most autistic accouchement affectation moderately beneath adapter aegis than non-autistic children, although this aberration disappears in accouchement with college brainy development or beneath astringent ASD. Earlier accouchement and adults with ASD accomplish worse on tests of face and affect recognition.

Children with high-functioning autism ache from added acute and accepted bareness compared to non-autistic peers, admitting the accepted acceptance that accouchement with autism adopt to be alone. Making and advancement friendships generally proves to be difficult for those with autism. For them, the affection of friendships, not the cardinal of friends, predicts how abandoned they feel. Anatomic friendships, such as those consistent in invitations to parties, may affect the affection of activity added deeply.

There are abounding anecdotal reports, but few analytical studies, of assailment and abandon in individuals with ASD. The bound abstracts advance that, in accouchement with brainy retardation, autism is associated with aggression, abolition of property, and tantrums. A 2007 abstraction interviewed parents of 67 accouchement with ASD and appear that about two-thirds of the accouchement had periods of astringent tantrums and about one-third had a history of aggression, with tantrums decidedly added accepted than in non-autistic accouchement with accent impairments. A 2008 Swedish abstraction begin that, of individuals age-old 15 or earlier absolved from hospital with a analysis of ASD, those who committed agitated crimes were decidedly added acceptable to accept added psychopathological altitude such as psychosis.

Communication 

About a third to a bisected of individuals with autism do not advance abundant accustomed accent to accommodated their circadian advice needs.[31] Differences in advice may be present from the aboriginal year of life, and may accommodate delayed access of babbling, abnormal gestures, beneath responsiveness, and articulate patterns that are not synchronized with the caregiver. In the additional and third years, autistic accouchement accept beneath accepted and beneath assorted babbling, consonants, words, and chat combinations; their gestures are beneath generally chip with words. Autistic accouchement are beneath acceptable to accomplish requests or allotment experiences, and are added acceptable to artlessly echo others' words (echolalia) or about-face pronouns. Collective absorption seems to be all-important for anatomic speech, and deficits in collective absorption assume to analyze breed with ASD: for example, they may attending at a pointing duke instead of the pointed-at object, and they consistently abort to point at altar in adjustment to animadversion on or allotment an experience. Autistic accouchement may accept adversity with artistic comedy and with developing symbols into language.

In a brace of studies, high-functioning autistic accouchement age-old 8–15 performed appropriately able-bodied as, and adults added good than, alone akin controls at basal accent tasks involving cant and spelling. Both autistic groups performed worse than controls at circuitous accent tasks such as allegorical language, apperception and inference. As bodies are generally sized up initially from their basal accent skills, these studies advance that bodies speaking to autistic individuals are added acceptable to aggrandize what their admirers comprehends

References 

http://en.wikipedia.org/wiki/Autistic_disorder

Read more...

Tay–Sachs disease In children

 
Tay–Sachs disease (abbreviated TSD, also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder. It is caused by a genetic defect in a single gene with one defective copy of that gene inherited from each parent. The disease occurs when harmful quantities of gangliosides accumulate in the nerve cells of the brain, eventually leading to the premature death of those cells. Tay–Sachs disease is rare, and other autosomal recessive disorders, such as cystic fibrosis and sickle cell anemia, are far more common.
The disease is named after British ophthalmologist Warren Tay, who first described the red spot on the retina of the eye in 1881, and the American neurologist Bernard Sachs of Mount Sinai Hospital, New York who described the cellular changes of Tay-Sachs and noted an increased prevalence in the Eastern European Jewish (Ashkenazi) population in 1887.
Research in the late 20th century demonstrated that Tay–Sachs disease is caused by a genetic mutation on the HEXA gene on chromosome 15. French Canadians of southeastern Quebec have a carrier frequency similar to Ashkenazi Jews, but they carry a different mutation. Many Cajuns of southern Louisiana carry the same mutation that is most common in Ashkenazi Jews. Most HEXA mutations are rare, and do not occur in genetically isolated populations. The disease can potentially occur from the inheritance of two unrelated mutations in the HEXA gene.

Signs and symptoms

Tay–Sachs disease is classified in variant forms, based on the time of onset of neurological symptoms. The variant forms reflect diversity in the mutation base
Infantile TSD. Infants with Tay–Sachs disease appear to develop normally for the first six months after birth. Then, as nerve cells become distended with gangliosides, a relentless deterioration of mental and physical abilities occurs. The child becomes blind, deaf, and unable to swallow. Death usually occurs before the age of four.
Juvenile TSD. Extremely rare, juvenile Tay
 

The best accepted of the lipid accumulator diseases, Tay-Sachs ache after-effects from a complete absence of the agitator hexosaminidase A. It’s characterized by accelerating brainy and motor abasement and is usually baleful afore age 5, although some adolescents and adults with variations of hexosaminidase A absence accept been noted.

Causes

Tay-Sachs ache (also accepted as GM2 gangliosidosis) is an autosomal backward anarchy in which the agitator hexosaminidase A is around absent or deficient. This agitator is all-important for metabolism of gangliosides, water-soluble glycolipids begin primarily in axial afraid arrangement (CNS) tissues. Without hexosaminidase A, accumulating lipid pigments amplify and progressively abort and demyelinate CNS cells.

Tay-Sachs ache strikes bodies of Eastern European Jewish (Ashkenazi) ancestor added about than the accepted population, occurring in about 1 in 2,500 alive births in this indigenous group. About 1 in 25 Ashkenazi Jews are heterozygous carriers.

Signs and symptoms

A adolescent with archetypal Tay-Sachs ache appears accustomed at birth, although he may accept an abstract Moro reflex. By age 3 to 6 months, he becomes blah and responds alone to loud sounds. His neck, trunk, arm, and leg anatomy abound weaker, and anon he can’t sit up or lift his head. He has adversity axis over, can’t butt objects, and has accelerating eyes loss.

By age 18 months, the baby is usually deafened and dark and has seizures, ambiguous paralysis, and spasticity. His pupils are aggrandized and don’t acknowledge to light. Decerebrate acerbity and a abundant accompaniment follow. The adolescent suffers alternate bronchopneumonia afterwards age 2 and usually dies afore age 5. A adolescent who survives may advance anarchy and accelerating motor amentia amid ages 2 and 8.

The “juvenile” anatomy of Tay-Sachs ache about appears amid ages 2 and 5 as a accelerating abasement of psychomotor abilities and gait. Patients with this blazon can survive to adulthood.

Diagnosis

Typical analytic appearance point to Tay-Sachs disease, but serum assay assuming amiss hexosaminidase A is the key to diagnosis. An ophthalmologic assay assuming optic assumption decline and a characteristic cherry-red atom on the retina supports the diagnosis. (The cherry-red atom may be absent in the adolescent form.)

Carrier screening is capital for all couples back at atomic one accomplice is of Ashkenazi Jewish ancestor and for others with a ancestors history of the disease. A claret analysis evaluating hexosaminidase A levels can analyze carriers. Amniocentesis or chorionic beard sampling can ascertain hexosaminidase A absence in the fetus.

For two-carrier parents utilizing in-vitro fertilization to accomplish pregnancies, preimplantation abiogenetic testing has been attempted with some success. Healthy embryos are transferred to the woman’s uterus.

Treatment

Tay-Sachs ache has no accepted cure. Supportive analysis includes tube feedings of comestible supplements, suctioning and postural arising to abolish pharyngeal secretions, bark affliction to anticipate accountability ulcers in bedfast children, and balmy laxatives to abate neurogenic constipation. Anticonvulsants usually abort to anticipate seizures. Because these accouchement charge connected concrete care, abounding parents accept full-time accomplished home nursing affliction or abode them in abiding appropriate affliction facilities.

Special considerations

Your best important job is to advice the ancestors accord with accordingly accelerating affliction and death.

Offer carrier testing to all couples from high-risk indigenous groups.

Accredit the parents for abiogenetic counseling, and accent the accent of amniocentesis in approaching pregnancies. Accredit ancestors for screening to actuate whether they’re carriers. If they are carriers and are adults, accredit them for abiogenetic counseling, but accent that there is no crisis of transmitting the ache to baby if they don’t ally addition carrier.

Because the parents of an afflicted adolescent may feel boundless accent or answerability because of the child’s affliction and the affecting and banking accountability it places on them, accredit them for cerebral counseling if indicated.

If the parents affliction for their adolescent at home, advise them how to do suctioning, postural drainage, and tube feeding. Additionally advise them how to accommodate acceptable bark affliction to anticipate accountability ulcers.

Read more...

Brief Summary of Clinical Features of Diabetes in Children

Brief Summary of Clinical Features of Diabetes in Children

Would you like to find out what those-in-the-know have to say about DKA.diabetic ketoacidosis? The information in the article below comes straight from well-informed experts with special knowledge about DKA.diabetic ketoacidosis.

It's really a good idea to probe a little deeper into the subject of DKA.diabetic ketoacidosis. What you learn may give you the confidence you need to venture into new areas.

Diabetic ketoacidosis (DKA) is a potentially life-threatening complication in patients with diabetes mellitus. It happens predominantly in those with type 1 diabetes, but it can occur in those with type 2 diabetes under certain circumstances. DKA results from a shortage of insulin; in response the body switches to burning fatty acids and producing acidic ketone bodies that cause most of the symptoms and complications.

DKA may be the first symptom of previously undiagnosed diabetes, but it may also occur in known diabetics due to a variety of causes, such as intercurrent illness or poor compliance with insulin therapy. Vomiting, dehydration, deep gasping breathing, confusion and occasionally coma are typical symptoms. DKA is diagnosed with blood and urine tests; it is distinguished from other, rarer forms of ketoacidosis by the presence of high blood sugar levels. Treatment involves intravenous fluids to correct dehydration, insulin to suppress the production of ketone bodies, treatment for any underlying causes such as infections, and close observation to prevent and identify complications.

DKA is a medical emergency, and without treatment it can lead to death. DKA was first described in 1886; until the introduction of insulin therapy in the 1920s it was almost universally fatal.[3] It now carries a mortality of less than 5% with adequate and timely treatment.[
As diabetes develops, symptoms steadily increase, reflecting the decreasing ?-cell mass, worsening insulinopenia, progressive hyperglycemia, and eventual ketoacidosis. Initially, when only insulin reserve is limited, occasional hyperglycemia occurs. When the serum glucose increases above the renal threshold, intermittent polyuria or nocturia begins. With further ?-cell loss, chronic hyperglycemia causes a more persistent diuresis, often with nocturnal enuresis, and polydipsia becomes more apparent. Female patients may develop monilial vaginitis due to the chronic glycosuria. Calories are lost in the urine (glycosuria), triggering a compensatory hyperphagia. If this hyperphagia does not keep pace with the glycosuria, loss of body fat ensues, with clinical weight loss and diminished subcutaneous fat stores.

An average, healthy 10-yr-old child consumes about 50% of 2,000 daily calories as carbohydrate. As that child becomes diabetic, daily losses of water and glucose may be 5 L and 250 g, respectively, representing 1,000 calories, or 50%, of the average daily caloric intake. Despite the child’s compensatory increased intake of food, the body starves because unused calories are lost in the urine.

When extremely low insulin levels are reached, keto acids accumulate. At this point, the child quickly deteriorates. Keto acids produce abdominal discomfort, nausea, and emesis, preventing oral replacement of urinary water losses. Dehydration accelerates, causing weakness or orthostasis—but polyuria persists. As in any hyperosmotic state, the degree of dehydration may be clinically underestimated because intravascular volume is conserved at the expense of intracellular volume. Ketoacidosis exacerbates prior symptoms and leads to Kussmaul respirations (deep, heavy, rapid breathing), fruity breath odor (acetone), diminished neurocognitive function, and possible coma. About 20–40% of children with new-onset diabetes progress to DKA before diagnosis.

This entire progression happens much more quickly (over a few weeks) in younger children, probably owing to more aggressive autoimmune destruction of ? cells. In infants, most of the weight loss is acute water loss because they will not have had prolonged caloriuria at diagnosis, and there will be an increased incidence of DKA at diagnosis. In adolescents, the course is usually more prolonged (over months), and most of the weight loss represents fat loss due to prolonged starvation. Additional weight loss due to acute dehydration may occur just before diagnosis. In any child, the progression of symptoms may be accelerated by the stress of an intercurrent illness or trauma, when counter-regulatory (stress) hormones overwhelm the limited insulin secretory capacity.

Diagnosis:

The diagnosis of T1DM is usually straightforward. Although most symptoms are nonspecific, the most important clue is an inappropriate polyuria in any child with dehydration, poor weight gain, or “the flu.” Hyperglycemia, glycosuria, and ketonuria can be determined quickly. Nonfasting blood glucose greater than 200 mg/dL (11.1 mmol/L) with typical symptoms is diagnostic with or without ketonuria.

In the obese child, T2DM must be considered.

Once hyperglycemia is confirmed, it is prudent to determine whether DKA is present (especially if ketonuria is found) and to evaluate electrolyte abnormalities—even if signs of dehydration are minimal. A baseline hemoglobin A1C (HbA1C) allows an estimate of the duration of hyperglycemia and provides an initial value by which to compare the effectiveness of subsequent therapy

Those who only know one or two facts about DKA.diabetic ketoacidosis can be confused by misleading information. The best way to help those who are misled is to gently correct them with the truths you're learning here.

Read more...

Laboratory Findings in Hypoparathyroidism

Laboratory Findings in Hypoparathyroidism 

The only way to keep up with the latest about Laboratory Findings in Hypoparathyroidism  is to constantly stay on the lookout for new information. If you read everything you find about Laboratory Findings in Hypoparathyroidism , it won't take long for you to become an influential authority.

Truthfully, the only difference between you and Laboratory Findings in Hypoparathyroidism  experts is time. If you'll invest a little more time in reading, you'll be that much nearer to expert status when it comes to Laboratory Findings in Hypoparathyroidism .

The serum calcium level is low (5–7 mg/dL), and the phosphorus level is elevated (7–12 mg/dL).

Blood levels of ionized calcium (usually approximately 45% of the total) more nearly reflect physiologic adequacy but also are low.

The serum level of alkaline phosphatase is normal or low, and the level of 1,25[OH]2D3 is usually low, but high levels have been found in some children with severe hypocalcemia.

The level of magnesium is normal but should always be checked in hypocalcemic patients.

Levels of PTH are low when measured by immunometric assay.

Administration of the synthetic 1–34 fragment of human PTH (teriparatide acetate) results in increased urinary levels of cyclic adenosine monophosphate and phosphate. This response differentiates hypoparathyroidism from pseudohypoparathyroidism. With the advent of very sensitive PTH assays, this test is usually not necessary.

Radiographs of the bones occasionally reveal an increased density limited to the metaphyses, suggestive of heavy metal poisoning, or an increased density of the lamina dura. Radiographs or CT scans of the skull may reveal calcifications in the basal ganglia.

There is a prolongation of the QT interval on the electrocardiogram, which disappears when the hypocalcemia is corrected.

The electroencephalogram usually reveals widespread slow activity; the tracing returns to normal after the serum calcium concentration has been within the normal range for a few weeks, unless irreversible brain damage has occurred or unless the parathyroid insufficiency is associated with epilepsy.

When hypoparathyroidism occurs concurrently with Addison disease, the serum level of calcium may be normal, but hypocalcemia appears after effective treatment of the adrenal insufficiency.

That's the latest from the Laboratory Findings in Hypoparathyroidism  authorities. Once you're familiar with these ideas, you'll be ready to move to the next level.

Read more...

Introduction to Short Stature

Introduction to Short Stature

You should be able to find several indispensable facts about Introduction to Short Stature in the following paragraphs. If there's at least one fact you didn't know before, imagine the difference it might make.

If you don't have accurate details regarding Introduction to Short Stature, then you might make a bad choice on the subject. Don't let that happen: keep reading.

    Disturbances of growth are the most common presenting complaints in the pediatric endocrine clinic.
        Fetal growth is dependent on maternal factors (placental sufficiency, maternal nutrition, etc.), insulin-like growth factor-2 (IGF-2) and insulin.
        Growth in late infancy and childhood is dependent on growth hormone/IGF-1 axis and thyroid hormone. Growth is more rapid during infancy—up to 20 cm per year. It is common to see shifts in the growth curve in the first 18 months when children are adjusting to their genetic potential growth isopleth. During childhood, growth rate is fairly constant at approximately 2 inches (approximately 5 cm) per year.
        Pubertal growth is dependent on sex hormones as well as growth hormone/IGF-1 axis and the thyroid gland. There is a mild deceleration in growth velocity before initiation of pubertal growth spurt.
    Abnormal growth and stature: criteria
        Child’s growth curve is crossing percentiles.
        Child’s growth rate is <2 inches or 5 cm per year.
        Height is >2 standard deviations (SDs) (4 inches/10 cm) below from midparental height.
    If poor weight gain and lack of nutrition is the problem without affecting height velocity, it is unlikely to be an endocrine cause and patient may warrant a gastrointestinal evaluation instead.

Etiology

    Normal growth patterns that can look like a growth disorder
        Genetic (familial) short stature. Children have normal growth velocity, normal timing of development and puberty, and bones fuse at the appropriate age. Height is short because of a short mother and/or a short father. Bone age (BA) = chronologic age (CA).
        Constitutional delay of growth and puberty. Children have normal growth velocity, delayed timing of puberty, and delayed BA. There is a family history of late bloomers. Anticipate a less robust growth spurt.
    Primary growth failure
        Chromosomal disorders such as Turner syndrome, Down syndrome, Noonan syndrome, Russell-Silver syndrome, Prader-Willi syndrome, and pseudohypoparathyroidism
        Skeletal dysplasias such as hypochondroplasias, achondroplasias, osteogenesis imperfecta, and Albright hereditary osteodystrophy
    Secondary growth failure
        Prenatal onset
            Maternal hypertension, fetal alcohol syndrome, and congenital infections
            Small for gestational age (SGA). Infants are born with weights below the 10th percentile for their gestational age. Russell-Silver syndrome is one of the many syndromes that includes SGA in the features.
        Postnatal onset
            Endocrine, such as hypothyroidism, growth hormone deficiency, growth hormone resistance (Laron dwarfism), and glucocorticoid excess
            Nonendocrine, such as renal failure, renal tubular acidosis, malabsorption, cystic fibrosis, celiac disease, and Crohn disease
            History
            Physical history
                History of changes in growth pattern and onset of puberty
                History of chronic illnesses
                Prenatal exposures to toxins, drugs, or alcohol; use of other medications (e.g., steroids, psychostimulants)
                History of prematurity; weight for gestational age and catch-up growth
            Social history
                History of adoption and ethnic background
                History of child abuse or neglect, which may give information supportive of psychosocial dwarfism
            Family history
                History of pubertal development. Age of menarche in mother and age of physical changes or cessation of growth in father may give information that supports the diagnosis of constitutional growth delay.
                Family history of chronic diseases (e.g., inflammatory bowel disease, neurofibromatosis, mental retardation and calcium problems, renal disease). The child’s symptoms of these diseases are very important.
        Physical Examination
            Abnormal facial features, shortening of fourth or fifth metacarpals, cognitive impairment, and skin lesions may be suggestive of genetic disorders.
            Arm span and upper-to-lower segment (U/L). Determination of the arm span and U/L ratio (lower segment is the measurement from the symphysis pubis to the floor) is useful to determine the etiologies of short stature. Examples:
                Short arm span or small legs and normal trunk (increased U/L ratio) may indicate skeletal dysplasia or hypothyroidism.
                Long arms and decreased U/L ratio may indicate hypogonadism.
                Arm span longer than height may also suggest abnormal spine growth.
            The U/L ratio varies with age and race: 1.7 at birth, 1.4 at 2 years, 1 at 10 years, ~0.9 at adulthood
            Calculating midparental height (in centimeters)
                For girls: (Father’s Height – 13 centimeters) ± (Mother’s Height)/2
                For boys: (Mother’s Height ± 13 centimeters) ± (Father’s Height)/2
                Target height is midparental height ± 2 SD (1 SD = 5 cm)
            Measurement of growth
            The growth curve is the most valuable instrument for assessing the problem. The pattern of growth of a normal child is very consistent, and deviations in the process may warrant concern and further evaluation.
                Obtain length up to age 2 and height onward. Note that at age 3, the height at 50th percentile is 95 cm and for length is 96.5 cm.
                It is important to be consistent and systematic in the way height is obtained. Always measure it without shoes, and when plotting the patient in the growth curve, be as accurate as possible regarding the actual age of the child. Be sure to correct for genu recurvatum or leg length asymmetries when obtaining the measurements. Do not forget that pediatric patients do not shrink, so if unsure of your measurement, remeasure the patient again.
                It is strongly recommended that you use the metric system. The tendency to round off numbers becomes problematic when an inch is the measure.
            BA: gives a level of bone maturation based on centers of ossification and closure of epiphyses.
            Up to a CA of 2 years, a hemiskeletal BA is more accurate; after that, obtain a left hand/wrist radiograph using the method of Greulich and Pyle.
        Laboratory Studies
            General screening tests: CBC with differential; BMP; urinalysis; bone age; T4 and TSH; IGF-1 (>5 years of age)
            Specialized tests: karyotype; growth hormone stimulation test; dexamethasone suppression test
                Growth hormone stimulation test
                    There is no gold standard test for the diagnosis of growth hormone deficiency.
                    Growth hormone stimulation tests are needed because of the pulsatile nature of growth hormone release. A growth hormone level by itself is meaningless in the evaluation of short stature. Provocative agents include clonidine, L-dopa, arginine, insulin, glucagon, and growth hormone–releasing hormone.
                    The tests should be performed by an endocrinologist.
                    Up to 25% of normal children fail any given stimulation test, so it is important to consider the rest of the clinical picture and document abnormal results using two different agents to classify a patient as growth hormone–deficient. It is considered a pass if the stimulation test has a peak growth hormone response >8 ng/mL.
        Treatment (Growth Hormone Therapy)
            Food and Drug Administration–approved indications for the use of growth hormone
                Growth hormone deficiency
                Turner syndrome
                Renal insufficiency
                Prader-Willi syndrome
                SGA
                Idiopathic short stature (predicted target height: girls: <4?11; boys: <5?3)
            Effectiveness: best response in the first year of therapy
            Administration and dosage
                Give as a subcutaneous injection starting at 0.3 mg/kg/wk given 6–7 day/wk.
                For patients with Turner syndrome, give 0.35 mg/kg/wk.
            Cost: expensive
            Adverse effects: slipped capital femoral epiphysis, glucose intolerance/diabetes, pseudotumor cerebri, scoliosis.

Now you can be a confident expert on Introduction to Short Stature. OK, maybe not an expert. But you should have something to bring to the table next time you join a discussion on Introduction to Short Stature.

Read more...