Saturday, February 27, 2010
Learning about Marfan Syndrome
1:37 PM | 
Diposkan oleh
HermantoMarfan syndrome is caused by mutation in gene for structural molecules of the extracellular matrix especially fibrilin-1 (FBN1) on chromosome 15 that lead abnormalities in microfibrillar assembly and stability. This disease also reduce microfibrils in elastic or non elastic tissues.
Incidence of Marfan Syndroem is about 1 in 10,000 in most racial and ethnic groups. The disorder is inherited as an autosomal dominant trait. At least 25 percents of people wih Marfan Syndrome do not have an affected parent, and therefore probably represent new mutations.
The specific diagnoses of Marfan Syndrome will continue to be made in the clinic rather than the molecular genetics laboratory.
All of clinical manifestation depend on whether the molecular defect resides in a gene for collagen, fibrillin, elastin, or other matrix protein, the bones, ligaments, joints, blood vessels, eyes, or skin are affected to various degrees.
Clinical features are tall stature with long and thin extremities, low subcutaneous fat, arm span >8cm excess of height, arachnodactyly, long and narrow face, high arched palate, dental crowding, scoliosis, pectus excavatum or carinatum, pes planus, protrusion acetabuli, joint laxity. Treatment for this disorder are corrective surgery for scoliosis, orthodontia for dental crowding.
This syndrome also can manifest aneurysma dilatation of aorta ascending, aortic regurgitation, mitral valve prolapse, aortic dissection. The treatment for this manifestation are β-adrenergic blockade, composite aortic graft.
Another clinical features are ectopia lentis, myopia, flat cornea, retinal detachment. The treatment for this disorder are corrective lenses.
Friday, February 26, 2010
Post Traumatic Stress Disorder (PTSD)
PTSD is a condition marked by the development of symptoms with duration more than a month after exposure to traumatic life events. People with this disorder will reacts to this experience with fear and helplessness, persistently relives the event, and tries to avoid being reminded of it. Their reaction significantly affect important area of life (e.g family, work).
This disorder usually arise from experiences in war, torture, natural catastrophes (tsunami, hurricane, earthquake), assault, rape, and serious accidents, for example, in cars and in burning buildings.
The National Comorbidity Study found that 60 percent of males and 50 percent of females had experienced some significant trauma. The mental status examination often reveals feelings of guilt, rejection, and humiliation. Patients may also describe dissociative states and panic attacks, illusions and hallucinations may be present. Associated symptoms can include aggression, violence, poor impulse control, depression, and substance-related disorders. Cognitive testing may reveal that patients have impaired memory and attention.
Keys to correctly diagnosing PTSD involve a careful review of the time course relating the symptoms to a traumatic event. PTSD is also associated with reexperiencing and avoidance of a trauma, features typically not present in panic or generalized anxiety disorder.
The major approaches for people with PTSD are support, encouragement to discuss the event, and education about a variety of coping mechanisms (e.g., relaxation). Sedatives and hypnotics drugs can also be helpful.
Thursday, February 25, 2010
Learn about Breast Tumor in Teenage Girls
If teenage girls and women during their early reproductive years found tumor in their breast. The first one we must think about Fibroadenoma mammae (FAM). Because Fibroadenoma is the most common breast tumor in this age. They are rarely seen in women after the age of 40 or 45. Fibroadenomas are benign solid tumors composed of stromal and epithelial elements. Clinically, they may increase in size over a period of several months. They easily palpable and may be lobulated form.
Fibroadenomas do not have malignant potential, although neoplasia may develop in the epithelial elements within them, just as in epithelium elsewhere in the breast. Cancer in a newly discovered fibroadenoma is exceedingly rare.
On excision, fibroadenomas are well-encapsulated masses that may detach easily from surrounding breast tissue. A tissue diagnosis is required to rule out malignancy.
Fibroadenoma has two subtypes. The first one is Giant Fibroadenoma that attains an unusually large size, typically greater than 5 cm. And latter is Juvenile Fibroadenoma that occurs in adolescents and young adults and histologically is more cellular than the usual fibroadenoma. Although these lesions may display remarkably rapid growth, surgical removal is curative.
Wednesday, February 24, 2010
Black Widow Spider Bites
We can found Widow spiders (genus Latrodectus) throughout the world. At least one of five species inhabits all areas of the United States except Alaska. The most popular widow spider is the black widow (Latrodectus mactans).
Female spiders (Black widow) has a leg span of 1 to 4 cm and a shiny black body with a distinctive red ventral marking (often hourglass shaped). Variations in color occur among other species, some of them appearing brown or red and some without the ventral marking. The nonaggressive female widow spider bites in defense. Males are too small to bite through human skin.
Widow spiders produce neurotoxic venom with minimal local effects with major component is α-latrotoxin that acts at presynaptic terminals by enhancing release of neurotransmitters.
When they bite us, may be felt painless or felt as a “pinprick.” Local findings are minimal.
Neuromuscular symptoms may occur as early as 30 minutes after the bite such as :
· Severe pain and spasms of large muscle groups
· Abdominal cramps and rigidity
· Dyspnea as the result from chest wall muscle tightness
· Hypertension, diaphoresis, and tachycardia as the result of autonomic stimulation.
· Other symptoms : nausea, vomiting, headache, paresthesias, fatigue, and salivation.
· Symptoms usually peak at several hours and resolve in 1 to 2 days.
· Death is an unusual result of widow spider bites.
For mild bites, we can treat with local wound care such as cleansing, intermittent application of ice, and tetanus prophylaxis as needed. In some cases, we can use narcotics and benzodiazepines to relieve muscular pain.
In the United States, antivenom derived from horse serum is available (Black Widow Spider Antivenin, Merck & Co., West Point, PA). We must be careful use this antivenom because this antivenom can cause anaphylactoid reactions or serum sickness. So, before use antivenom, better we do skin testing for possible allergy. In some studies have demonstrated that antivenom can decrease hospital stay.
Tuesday, February 23, 2010
Sexual Sado-Masochism
Sexual Sadism
The terminology of this disorder was named after the Marquis de Sade, an 18th century French author and military officer who was repeatedly imprisoned for his violent sexual acts against women.
Most persons with sexual sadism are male and before the age of 18 years.
Sadism is a defense against fears of castration; persons with sexual sadism do to others what they fear will happen to them and derive pleasure from expressing their aggressive instincts.
Sexual sadism is related to rape, although rape is more aptly considered an expression of power. Some sadistic rapists, however, kill their victims after having sex (so-called lust murders).
According to John Money, there are five contributory causes of sexual sadism :
· Hereditary predisposition
· Hormonal malfunctioning
· Pathological relationships
· History of sexual abuse
· The presence of other mental disorders.
DSM-IV-TR Diagnostic Criteria for Sexual Sadism :
A. Over a period of at least 6 months, recurrent, intense sexually arousing fantasies, sexual urges, or behaviors involving acts (real, not simulated) in which the psychological or physical suffering (including humiliation) of the victim is sexually exciting to the person.
B. The person has acted on these sexual urges with a nonconsenting person, or the sexual urges or fantasies cause marked distress or interpersonal difficulty.
Sexual Masochism
Masochism’s terminology from the activities of Leopold von Sacher-Masoch, a 19th century Austrian novelist whose characters derived sexual pleasure from being abused and dominated by women.
According to DSM-IV-TR, persons with sexual masochism have a recurrent preoccupation with sexual urges and fantasies involving the act of being humiliated, beaten, bound, or otherwise made to suffer.
Sexual masochistic practices are more common among men than among women.
Psychodynamic
SigmundFreud believed masochism resulted from destructive fantasies turned against the self.
In some cases, persons can allow themselves to experience sexual feelings only when punishment for the feelings follows. Persons with sexual masochism may have had childhood experiences that convinced them that pain is a prerequisite for sexual pleasure. About 30% of those with sexual masochism also have sadistic fantasies.
Moral masochism involves a need to suffer, but is not accompanied by sexual fantasies.
DSM-IV-TR Diagnostic Criteria for Sexual Masochism :
A. Over a period of at least 6 months, recurrent, intense sexually arousing fantasies, sexual urges, or behaviors involving the act (real, not simulated) of being humiliated, beaten, bound, or otherwise made to suffer.
B. The fantasies, sexual urges, or behaviors cause clinically significant distress or impairment in social, occupational, or other important areas of functioning.
Treatment
1. Psychotherapy
· Insight-oriented psychotherapy : to help them understand the dynamics of behavioral patterns. Supportive psychotherapy : to help them repair the interpersonal, social, or occupational damage that occurs.
· Cognitive behavioral therapy : helps them recognize dysphoric states that precipitate sexual acting out.
· Marital therapy or couples therapy : to help them regain self-esteem.
2. Pharmacotherapy
Prognosis
Because of the chronic course of sexual masochism and the uncertainty of its causes, treatment is often difficult. The fact that many masochistic fantasies are socially unacceptable or unusual leads some people who may have the disorder not to seek or continue treatment. Severe or difficult cases of sexual masochism should be referred to professionals who have experience treating such cases.
Prevention
Because it is sometimes unclear whether sadomasochistic behavior is within the realm of normal experimentation or indicative of a diagnosis of sexual masochism, prevention is a tricky issue. Often, prevention refers to managing sadomasochistic behavior so it primarily involves only the simulation of severe pain and it always involves consenting partners familiar with each other's limitations.
Saturday, February 20, 2010
Wilms Tumor
Wilms tumor is the most common primary malignant renal tumor of childhood and is the paradigm for multimodal management of a pediatric malignant solid tumor.
Epidemiology
The incidence of Wilms tumor is 10 cases per million among white children younger than 15 years, and the male to female ratio is low. The incidence is approximately three times higher for blacks in the United States and Africa than for eastern Asians.
Clinical Manifestation
• Abdominal swelling or abdominal mass (most common complain).
• Abdominal mass
• Gross hematuria
• Fever
• Hypertension (about 25% of cases).
Differential Diagnosis
• Splenomegaly
• Neuroblastoma (often arises in the celiac axis or extends across the midline because of lymph node involvement).
Imaging Studies
• UltrasonographyThe patency of the inferior vena cava.
• CT Scans of the abdomen with contrast
To evaluate the nature and extent of the mass, may suggest apparent extension of the tumor into adjacent structures, such as the liver, spleen, or colon.
• Plain chest radiographs, CT scans of chest
To determine whether pulmonary metastasis is present.
• Brain CT scans or MRI
For all children with clear cell sarcoma of the kidney or rhabdoid tumor of the kidney
Staging
Treatment
Surgery
• Surgical removal of the primary tumor remains the cornerstone of Wilms tumor therapy.
• Assessment of tumor spread at surgery is essential for accurate staging and for subsequent determination of the need for radiation therapy and administration of the appropriate chemotherapeutic regimen. Every effort must be made to remove the tumor without causing spread or spill.
Radiotherapy
• The National Wilms Tumor Studies have shown that patients with stage I and II tumors and favorable histologic findings who receive vincristine and actinomycin D do not need postoperative irradiation.
Chemotherapy
According to National Wilms Tumor Study Group findings, the chemotherapy regimens recommended for children with favorable histologic findings of Wilms tumor depend on tumor stage:
• Stage I or II, vincristine and actinomycin D for 18 weeks
• Stage III or IV, a combination of vincristine, actinomycin D, and doxorubicin for 21 weeks.
Prognosis
The most important determinant of prognosis :
• Tumor size
• Age of the patient
• Presence of lymph node metastasis
• Local features of the tumor, such as capsular or vascular invasion.
Friday, February 19, 2010
Bacterial Vaginosis
Definition
Bacterial vaginosis (BV) has previously been referred to as nonspecific vaginitis or Gardnella vaginitis.
It is an alteration of normal vaginal bacterial flora that results in the loss of hydrogen peroxide producing lactobacilli and an overgrowth of predominantly anaerobic bacteria.
Anaerobic bacteria can be found in less than 1% of the flora of normal women. In women with Bacterial Vaginosis, however, the concentration of anaerobes, as well as Gardnerella vaginalis and Mycoplasma hominis, is 100 to 1,000 times higher than in normal women. Lactobacilli are usually absent.
It is not known what triggers the disturbance of normal vaginal flora. It has been postulated that repeated alkalinization of the vagina, which occurs with frequent sexual intercourse or use of douches, plays a role. After normal hydrogen peroxide producing lactobacilli disappear, it is difficult to reestablish normal vaginal flora, and recurrence of Bacterial Vaginosis is common.
Diagnosis
It is diagnosed on the basis of the following findings :
· A fishy vaginal odor
· Vaginal discharge are present ( gray and thinly coat the vaginal walls).
· The pH of these secretions is higher than 4.5 (usually 4.7 to 5.7).
· Microscopy of the vaginal secretions reveals an increased number of clue cells, and leukocytes are conspicuously absent.
· The addition of KOH to the vaginal secretions releases a fishy, amine like odor.
· Culture of G. vaginalis is not recommended as a diagnostic tool because of its lack of specificity.
Complication
Women with Bacterial Vaginosis are at increased risk for :
· Pelvic inflammatory disease (PID)
· Post-abortal PID
· Postoperative cuff infections after hysterectomy
· Abnormal cervical cytology.
Pregnant women with Bacterial Vaginosis are at risk for :
· Premature rupture of the membranes (PROM)
· Preterm labor and delivery
· Chorioamnionitis
· Post-cesarean endometritis.
Treatment
The effective treatment are :
1. Metronidazole is the drug of choice for treatment of Bacterial Vaginalis.
This antibiotic with excellent activity against anaerobes but poor activity against lactobacilli.
Dose :
· Oral : 500 mg twice a day for 7 days.
· Gel : Metronidazolegel, 0.75%, one applicator (5 g) intravaginally once or twice daily for 5 days.
2. Clindamycin is effective regimen in treating Bacterial Vaginosis.
Dose :
· Oral : 300 mg twice daily for 7 days.
· Cream : Clindamycin 2% one applicator full (5 g) intravaginally at night before sleep for 7 days.
Treatment of the male sexual partner has not been shown to improve therapeutic response and therefore is not recommended
Anemia Aplastic
Definition
Aplastic anemia is a disorder of hematopoiesis characterized by pancytopenia and a marked reduction or depletion of erythroid, granulocytic, and megakaryocytic cells in bone marrow.
In aplastic anemia, hematopoietic stem cells are unable to proliferate, differentiate, or give rise to mature blood cells and their precursors.
Etiology
1. Idiopatic : 50-65% cases.
2. Acquired :
· Drugs : antimetabolites, antimitotic agents, chloramphenicol, phenylbutazone, sulfonamides.
· Radiation
· Chemicals : benzene, solvents, insecticides.
· Viruses: non-A, non-B, non-C hepatitis, Epstein-Barr virus.
· Paroxysmal nocturnal hemoglobinuria.
· Miscellaneous: pregnancy, connective tissue disorders.
3. Hereditary :
· Fanconi anemia.
· Dyskeratosis congenital.
· Schwachman syndrome.
Clinical Manifestations
The most common initial symptoms of aplastic anemia are caused by anemia and thrombocytopenia:
· Progressive weakness
· Fatigue, headaches
· Dyspnea on exertion
· Petechia
· Ecchymoses
· Epistaxis
· Metrorrhagia
· Gum bleeding.
If the anemia is severe, the patient may be tachy-cardic and have cardiac murmurs associated with high-flow states. Hepatosplenomegaly and lymphadenopathy are notably absent.
Diagnostic Evaluation
The diagnosis of aplastic anemia should be considered if a pancytopenic patient :
· normochromic, normoc
ytic (or slightly macrocytic), and aregenerative anemia.
· Thrombocytopenia with normal-sized platelets.
· Neutropenia and no ab
normal cells in the leukocyte differential.
The absolute reticulocyte count is low because the anemia is secondary to reduced or absent red cell production.
Confirmation of the diagnosis requires morphologic and cytogenetic evaluation of the bone marrow (numerous spicules with empty fatty spaces and a few hematopoietic cells).
Differential Diagnosis
· hypocellular myelodysplastic syndrome.
· Hypocellular acute leukemia.
· Hairy cell leukemia.
Treatment
· Immunosuppressive Therapy
The treatment of choice for aplastic patients who lack a histocompatible sibling or are older than 40 years is ATG (40 mg/kg/day for 4 days) alone or in combination with cyclosporine (10 mg/kg/day divided into two doses, with dose adjustments as needed to maintain levels of 200 to 400 μg/mL for 3 to 6 months and then tapered over a period of 3 months).
· Allogeneic Hematopoietic Stem Cell Transplantation
The curative treatment for anemia aplastic is hematopoietic stem cell transplantation from an HLA-compatible sibling.
· Supportive Therapy
Red cell and platelet transfusions.
Prognosis
· The pancytopenia of aplastic anemia is progressive and life-threatening.
· The prognosis at diagnosis is closely correlated with the severity of neutropenia.
· The risk for infection (mainly bacterial and fungal) and associated mortality is high in patients with very severe aplastic anemia.
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