Pharmacovigilance Project

 A Simple Innovative Modification in the PharmacoVigilance  Process Shows Great Improvement in  Data Accuracy .Introduction of an additional Quality Control (QC) process,  using internally  developed QC metrics made the PharmacoVigilance data much more accurate and much beyond expectation.

Post-marketing surveillance (PMS) is needed to monitor the safety of drugs in the uncontrolled , real- world and post-approval environment. Pharmaceutical companies often outsource these pharmacoVigilance activities to CROs due to resource and time constraints. CliniLife performed PMS for one of the best Sites and pharmaceutical companies located in INDIA.

CliniLife looking for candidates for internship to perform PMS (Pharmacovigilance project work).

Please send your CVs for consideration to   clinilife@gmail.com
or contact us to 80080 59958

NIMS Univ offering M.pharmacy Pharmacovigilance

NIMS university, jaipur, Rajasthan offering M.pharmacy in Pharmacovigilance.

click the below link for more details:-

http://www.nimsuniversity.org/online/courses.php

online drug alert system by Jan 2011-good initiative by GUJRAT govt

The Gujarat Food & Drugs Control Administration, (FDCA) will soon implement the self-licensing software in its food and drug laboratory. The new software is designed to implement an online drug alert system, which will enable the FDCA to alert the retailers on any adverse report on the batch to batch test reports released by the drug testing laboratory through short message services (SMS). The same system is also followed in the US, however in US the retailers are alerted on the not-of-standard drugs reports through e-mail.

H G Koshia, commissioner, FDCA informed that they have already started with the process and it is expected to be complete by the first week of January 2011. The main aim behind implementing this new system is to ensure the safety of the consumers at large by making it more consumer friendly.

The decision to implement this software was taken by FDCA after deliberating with the service providers and other officers on the benefits of having this technology expanded to its food and drugs lab followed by a live demo, in a meeting that was conducted on December 22. The National Informatics Centre (NIC), the agency under which the software is developed, will provide the software whereas Vodafone will be the mobile phone service provider to implement this programme.


http://www.pharmabiz.com/article/detnews.asp?articleid=59053&sectionid=

ANCA/MPO/PR3 Antibodies

Why Get Tested?
To test for certain autoimmune disorders, such as Wegener's granulomatosis (WG), microscopic polyangitis (MPA), and a number of others
When to Get Tested?
When your doctor thinks that you have symptoms that may be due to a vascular autoimmune disorder; sometimes to monitor response to therapy
Sample Required?
A blood sample drawn from a vein in your arm
How is it used?
An ANCA test is ordered to evaluate someone who has symptoms that may be due to autoimmune vasculitis. It may be ordered by itself or along with two other tests that are used to distinguish between different autoimmune disorders. These include:
MPO antibodies
PR3 antibodies
Additional tests that may be performed to aid in a diagnosis include ESR (erythrocyte sedimentation rate) to check for inflammation, CBC (complete blood count) to measure and evaluate white and red blood cells, and urinalysis, BUN (blood urea nitrogen), and creatinine to evaluate kidney function.

Sometimes an ANCA test may be ordered to monitor the response to therapy, follow the course of the disease, and/or to detect a relapse.

Urinary Tract Infection (UTI)

INTRODUCTION:-The urinary tract comprises of the kidney, the urinary bladder, the ureter and the urethra.A bacterial infection in any of these organs is known as Urinary Tract Infection (UTI). Depending on the  organ affected, the infection is known with different names like cystitis or bladder infection (infection in the urinary bladder),  pyelonephritis  (infection in the kidneys), urethritis  (infection in the ureter ), etc. The infection usually occurs in the lower urinary tract, i.e., the  urethra and the ureter and travels upwards.

CAUSES: -the most common cause of UTI is bacterial infection, and the Escherichia coli or E. coli is the most common causal agent. This bacteria is found in the colon and sometimes around the anus. Apart from E.coli, urinary tract infections can be caused by other microorganisms too. They include chlamydia and mycoplasma, which can cause UTI in both men and women. It has been observed that the infection caused by  these microorganisms are often limited to the urethra and the reproductive system.

SYMPTOMS:-Pain during urination  ,Difficulty in urination ,Burning sensation during urination ,Blood in urine ,Foul smelling urine ,Frequent urge to urinate ,Low grade fever ,Lower abdominal cramps/pain ,Chills ,Pain in groin

DIAGNOSIS:-Making a diagnosis of a urinary tract infection begins with taking a thorough personal and family medical history, including symptoms, and completing a physical examination. It also includes performing a urinalysis test, which checks for the presence of pus, white blood cells, and bacteria in the urine, which point to a urinary tract infection. A urine culture and sensitivity is usually performed to find the exact microorganism that is causing the infection and to determine the most effective antibiotic to treat it.

Imaging tests, such as ultrasound, CT, nuclear scan, or voiding cystourethrogram. Cystourethrogram may also be ordered to evaluate the functioning of the urinary tract. Specific methods of investigation include X-ray, nuclear medicine, MRI, DMSA, and CAT scans.

TREATMENT:-Urinary tract infection can be treated with oral antibiotics or antibacterial drugs. The type of drug and the treatment duration depends upon the patient's history and the urine tests that identify the harmful bacteria. Oral antibiotics include trimethoprim, cephalosporin, tetracycline or amoxicillin; nitrofurantoin can be given to the patient, but under the doctor's supervision. Intake of pain-relieving medication will also relieve the patient from pain and discomfort.

PREVENTION:-Preventive antibiotics ,Water ,Cranberry juice ,Vitamin C supplements ,Avoid resisting the urge to urinate ,Avoid feminine hygiene sprays ,Avoid scented douches ,Breastfeeding can reduce the risk of UTIs in infants.

Ulcers

INTRODUCTION:-An ulcer is any type of sore that occurs from the loss of skin and tissue on the surface of the skin, or on an internal membrane. Ulcers on the digestive tract membranes are called peptic ulcers (types include stomach ulcers or duodenal ulcers). Other common types of ulcers are mouth ulcer sand genital ulcers. Large skin ulcers can become serious and cause severe open wounds such as in bedsores or foot ulcers.

CAUSES:-

SYMPTOMS:-Abdominal pain – This is a burning feeling or gnawing pain in the stomach that lasts about for30 minutes to 3 hours. Pain may also occur in the upper part of the abdomen or below the breastbone. Some people get this pain immediately after eating, while some get this pain hours after eating.

Heartburn ,  Indigestion  or Hunger.

Weight Loss or Weight Gain – Duodenal Ulcers are often relieved by eating more, so such people experience   weight  gain. Peptic Ulcers cause weight loss due to a loss of appetite.

Blood vomitings. 

Blood   in the  Stool.

Bloating   in the abdominal  area.

Foul  smelling  faeces.

DIAGNOSIS :-

Endoscopy Procedure: Gastrointestinal endoscopy or  gastroscopy  is a therapeutic procedure that involves visual examination of the gastrointestinal tract.

Helicobacter pylori  Test : Helicobacter pylori infection is found to be a major cause for stomach ulcer. In short, majority of the patients with stomach ulcer symptoms have infection by this bacteria strain

Barium Enema Procedure: Another commonly performed test for peptic ulcer diagnosis is barium contrast X-ray test.

TREATMENT :- The first class of medications which are used to deal with the pathogen are a combination of antibiotics . Medications which are commonly prescribed for duodenal, esophageal and stomach ulcer treatment include amoxicillin (Amoxil) , clarithromycin (Biaxin) and metrinidazole ,

ACID BLOCKERS drugs include ranitidine (Zantac), famotidine (Pepcid), cimetidine (Tagamet) and nizatidine,lansoprazole (Prevacid), rabeprazole (Aciphex)  and  esomeprazole (Nexium). These very drugs are also used for bleeding ulcer treatment.

Common prescription drugs are sucralfate (Carafate) and misoprostol (Cytotec). The bismuth subsalicylate(Pepto-Bismol) is a non-prescription one.

PREVENTION:-

Doctors are not totally certain how H. pylori bacteria are transmitted from person to person.

The bacteria have been found in saliva, so kissing may be one way. They also may be spread through food,water, or contact with vomit (puke) that has been infected with the bacteria.

The best advice in ulcer prevention is to always wash your hands after you use the bathroom and before you eat and to take good care of your body by exercising regularly and not smoking or drinking.

VERTIGO

INTRODUCTION:-Vertigo is a type of dizziness, where there is a feeling of motion when one is stationary. The symptoms are due to a dysfunction of the vestibular system in the inner ear. It is often associated with nausea and vomiting as well as difficulties standing or walking.

CAUSES:-The most common causes are benign paroxysmal positional vertigo and vestibular migraine while less common causes include Ménière's disease and vestibular neuritis. Excessive consumption of ethanol (alcoholic beverages) can also cause notorious symptoms of vertigo.

SYMPTOMS:-Vertigo is a sensation of spinning while stationary. It is commonly associated with vomiting or nausea, unsteadiness, and excessive perspiration. Recurrent episodes in those with vertigo are common and they frequently impair the quality of life. Blurred vision, difficulty speaking, a lowered level of consciousness, and hearing loss may also occur. Central nervous system disorders may lead to permanent symptoms.

DIAGNOSIS:-Tests of vestibular system (balance) function include electronystagmography (ENG), rotation tests, caloric reflex test, and computerized dynamic posturography (CDP).Tests of auditory system (hearing) function include pure-tone audiometry, speech audiometry, acoustic-reflex, electrocochleography (ECoG), otoacoustic emissions (OAE), and auditory brainstem response test .Other diagnostic tests include magnetic resonance imaging (MRI) and computerized axial tomography (CAT or CT).

TREATMENT:-Definitive treatment depends on the underlying cause of the vertigo.Benign paroxysmal positional vertigo (BPPV) is treated with the Epley maneuver (performed by a doctor or physical therapist, or with a BPPV maneuver at home), also treated by the use of anticholinergics and antihistamines.

Vestibular Rehabilitation Therapy: This form of treatment is also known as VRT, this is a physical therapy that is used to treat Vertigo. The main aim of this form of treatment is to minimize dizziness, improve balance and prevent falls by restoring to the normal functions of the vestibular system. 

Medications like diazepam (Valium) and meclizine (Antivert) are used to decrease inflammation within the vestibular system. Some patients are placed in a soft collar to limit range of motion of their heads while the vertigo gradually resolves. If there is concern that there is a viral infection causing the labyrinthitis or neuritis, antiviral medications like acyclovir (Zovirax) or Val acyclovir (Valtrex) may be considered.

PREVENTION:-People whose balance is affected by vertigo should take precautions to prevent injuries from falls. Those with risk factors for stroke should control their high blood pressure and high cholesterol and stop smoking. Individuals with Meniere's disease should limit salt in their diet.

YEAST INFECTION (CANDIDIASIS)

INTRODUCTION:-Yeast infections, also known as candidiasis, is a fungal infection which is more prominent in women than in men. The fungus which causes yeast infection is known as Candida Albicans. This fungus is present in small quantities on the skin especially, in the crotch of both, men and women. They cause yeast infection, when they multiply hugely.

CAUSES:-Yeast infections are more commonly caused by Candida albicans, a type of yeast that can be found in the human intestinal tract. Recurrent yeast infections can be associated with medications like, antibiotics, steroids and birth control pills. Women with diabetes are also vulnerable to Candidiasis .

SYMPTOMS:-Creamy white appearance on the tongue and inside the mouth, Pain and bleeding in gums, Difficulty in swallowing, Pain and itching in genitals, Irritability, Burning sensation ,Pain and disorders in vision (infection in eye) ,Blood in urine (infection in kidneys) ,Blood in sputum (infection in lungs) ,Damage to valves (infection in heart) ,Seizures (infection in the brain).

DIAGNOSIS: -The only definitive way to diagnose a vaginal yeast infection is to complete a full gynecologic exam. Diagnosis is generally made based on the typical appearance of the candidiasis sores, vaginal discharge or other symptoms and a history of factors that make a yeast infection likely. Diagnostic testing may include taking a small sample or swab of the infected area and examining it under a microscope to confirm an overgrowth of yeast.

TREATMENT:-As yeast infections are caused due to fungus, anti-fungal medications are the best and the most effective medications. There are several anti-fungal medications that can be gotten over-the-counter and can help in getting rid of genital as well as oral thrush. Medications like fluconazole, optical nystatin, topical ketocanozole, Miconazole – Monistat – derm, Monistat vaginal. Tioconazole – Vagistat vaginal. Butoconazole – Femstat. Clotrimazole – Femizole 7, Gyne – Lotrimin are some of the widely used drugs for yeast infection cure. One can also go for prescription creams and suppositories and also home remedies like yoghurt, garlic, Apple cider vinegar, Tea tree oil to get rid of the symptoms of yeast infection. However, most of the medications provide temporary relief and fail in prevention of frequent yeast infections.

PREVENTION:-The best way to prevent recurrent yeast infections is to make some dietary changes such as, avoidance of sugar, sugary foods and yeast-containing foods. You can also consider following a yeast free diet to get rid of this condition. Keeping the genital area clean and dry, avoiding tight fitting Clothes and undergarments and drinking plenty of water throughout the day can prove helpful in this regard. However, be sure to inform your physician if the infection persists even after using the home remedies, and taking all possible preventive measures.

YELLOW FEVER

INTRODUCTION:-Yellow fever: A viral infection transmitted by mosquito bites which can damage various organs such as the liver, heart, kidney and digestive tract.

CAUSES:-An acute infectious disease primarily of the tropics, caused by the yellow fever virus, a 40 to 50 nm wide enveloped RNA virus belonging to the family Flaviviridae and transmitted to man by mosquitoes of the genera Aedes and Haemagogus. Caused by a flavivirus transmitted by a mosquito.

SYMPTOMS:- Fever ,Headache ,Pain in the muscles ,Jaundice, Bleeding, which may progress to hemorrhage, Red eyes face and tongue ,Brain dysfunction ,Decreased urination ,Delirium Seizures ,Coma ,Vomiting blood.

DIAGNOSIS:-In the early stages, yellow fever can be confused with diseases like malaria, typhoid, rickettsial disease, Hemorrhagic viral fevers, arboviral infections, leptospirosis, viral hepatitis, and poisoning. An individual has to go through a laboratory analysis, in order to confirm the presence of the disease. Several other tests are also used to identify the virus. All the tests that are used to determine the virus require laboratory staff that are trained and are able to use specialized equipment and materials.

TREATMENT:-For yellow fever there is, like for all diseases caused by Flaviviruses, no causative cure. Hospitalization is advisable and intensive care may be necessary because of rapid deterioration in some cases. Different methods for acute treatment of the disease have been shown to not be very successful; passive immunization after emergence of symptoms is probably without effect. Ribavirin and other antiviral drugs as well as treatment with interferon do not have a positive effect in patients.A symptomatic treatment includes rehydration and pain relief with drugs like paracetamol, Acetylsalicylic acid (for example Aspirin) should not be given because of its haemodiluting effect, which can be  devastating in the case of inner bleeding that can occur with yellow fever.

PREVENTION:-The most important measure for prevention is the vaccination. In areas where no vaccination is available, it is important to be cautious. If you are venturing into an area where yellow fever is common, wear clothes that cover your entire body, use mosquito repellents, and sleep under bed nets.

WARTS

INTRODUCTION:-A wart is generally a small, rough tumor, typically on hands and feet but often other locations that can resemble a cauliflower or a solid blister.

TYPES:-Common wart (Eruct vulgaris), a raised wart with roughened surface, most common on hands, but can grow anywhere on the body;

Flat wart (Verruca plana): a small, smooth flattened wart, flesh-colored, which can occur in large numbers; most common on the face, neck, hands, wrists and knees;

Filiform or digitate wart: a thread- or finger-like wart, most common on the face, especially near the eyelids and lips;

Genital wart (venereal wart, Condyloma acuminatum, Verruca acuminata): a wart that occurs on the genitalia.

Mosaic wart: a group of tightly clustered plantar-type warts, commonly on the hands or soles of the feet;

Periungual wart: a cauliflower-like cluster of warts that occurs around the nails.

Plantar wart (verruca, Verruca pedis): a hard sometimes painful lump, often with multiple black specks in the center; usually only found on pressure points on the soles of the feet;

CAUSES:-Warts are caused by the human papilloma virus (HPV). There are about 130 known types of human papilloma viruses.HPV infects the squamous epithelium, usually of the skin or genitals, but each HPV type is typically only able to infect only a few specific areas on the body

SYMPTOMS:-Common warts are gray to flesh colored, raised from the skin surface, and covered with rough, hornlike projections.

DIAGNOSIS: - A wart is diagnosed by its location and appearance. If uncertain as to the type of skin problem, the doctor may elect to perform any of several different tests.

Skin scrapings: The doctor will use a scalpel to scrape the uncertain wart and send the sample to a laboratory. There, the pathologist will look at the scrapings under a microscope to evaluate for other conditions such as skin cancer that may look like a wart.

Punch biopsy: This is a more invasive way of obtaining a sample of the questionable wart. The doctor will numb the area around the wart and take a deeper coring sample. This skin and questionable wart will be sent to a laboratory for further evaluation.

TREATMENT:-There are many different treatments and procedures associated with wart removal. Clinical trials of various cutaneous wart treatments concluded that topical treatments containing salicylic acid were the best supported. It can also be controlled by laser therapy and cryotherapy which include applying liquid nitrogen to freeze the wart. They can also be treated by the application of cantharidin as a pant on the warts. One complicating factor in the treatment of warts is that the wart may regrow after it has been removed

PREVENTION:-Gardasil is a HPV vaccine aimed at preventing cervical cancers and genital warts. Gardasil is designed to prevent infection with HPV types 16, 18, 6, and 11. HPV types 16 and 18 currently cause about 70% of cervical cancer cases, and also cause some vulvar; vaginal, penile and anal cancers.HPV types 6 and 11 are responsible for 90% of documented cases of genital warts.

FDA Panel Recommends Approval of Solesta for Prevention of Fecal Incontinence

The benefits of Solesta (Oceana Therapeutics Inc), a bulking agent intended to prevent fecal incontinence, outweigh its risks, according to a 5 to 0 vote (with 1 abstention) of a US Food and Drug Administration (FDA) advisory panel yesterday.The Gastroenterology and Urology Devices Advisory Committee vote supported the approval of Solesta for adult patients with fecal incontinence who have failed conservative therapy.

Solesta is a bulking agent that is injected submucosally in the proximal part of the high-pressure zone of the anal canal. For each treatment, a series of 4 equally spaced injections with 1 mL of Solesta is performed approximately 5 mm proximal to the dentate line, with the aim of expanding the submucosal layer in the distal anal canal and thereby improving bowel control.

The FDA panel based its recommendation on data from a randomized, blinded, placebo-controlled study conducted at 13 centers in the United States and Europe. A total of 206 patients, aged between 18 and 75 years, were included. Each had experienced at least 4 episodes of fecal incontinence during the previous 2 weeks and had failed other, more conservative preventive approaches, such as dietary modification.

Patients were randomly assigned to receive either Solesta or a sham treatment for 6 months, after which time all patients received treatment with Solesta and were followed-up for an additional 6 months.The primary efficacy endpoint was a 50% decrease in incontinence episodes. After 12 months, 53% of patients receiving Solesta met this endpoint compared with 31% of sham patients (P < .05).Continued Reduction in Fecal Incontinence at 12 Months.

In a premeeting report presented to the FDA, the manufacturers concluded that the data show a clinically meaningful reduction in fecal incontinence episodes that was sustained for at least 12 months after treatment.

The panel also voted 6 to 0 in favor that the agent is safe for the treatment of fecal incontinence in adult patients who have failed conservative therapy. Safety data were obtained on 136 patients treated with Solesta for up to 12 months and on 70 patients randomly assigned to receive sham treatment in the blinded phase of the study.Nearly all adverse events were mild to moderate intensity, although anal or rectal abscesses were noted in 4 patients who received active treatment (none occurred in participants receiving sham treatment). Most adverse events associated with Solesta occurred within the first 6 months; 9 events occurred after 6 months, and all were mild intensity except for 1 case of proctalgia, which was moderate.

Patients receiving the agent also experienced a statistically significant improvement in quality of life, as per 2 quality of life measures: the Fecal Incontinence Quality of Life Scale and the Cleveland Clinic Fecal Incontinence Score.In addition, although the data were drawn from patients who were disproportionately white and women, the panelists generally agreed that these results could be extrapolated to other demographic groups.

Deflux, the material used in Solesta, was approved in the United States in 2001 for treatment of children with vesicoureteral reflux grades II to IV. Solesta is already approved for use in Europe and Canada as an injectable treatment for fecal incontinence.At this time, the only approved implantable medical device in the United States for fecal incontinence is the Acticon Neosphincter. In addition, the SECCA device is a 510(k)-cleared radiofrequency ablation device.Noninvasive therapies for fecal incontinence include techniques such as dietary modification, antidiarrheal medication, and biofeedback. More invasive surgical treatments include sphincteroplasty or sphincter repair, implantation of an artificial bowel sphincter, radiofrequency ablation of the tissue of the anal canal, and ileostomy/colostomy surgical repair.

TUBERCULOSIS

INTRODUCTION:-Tuberculosis which is also referred to as TB in short is a highly infectious disease caused by bacteria named Mycobacterium tuberculosis. It is an air borne germ which is often carried by tiny droplets expelled with cough by an infected person. It can affect both adults as well as small children.

CAUSES:-The primary cause of TB, Mycobacterium tuberculosis, is a small aerobic non-motile bacillus. High lipid content of this pathogen accounts for many of its unique clinical characteristics. The M. tuberculosis complex includes four other TB-causing mycobacterium: M. bovis, M. africanum, M. Canetti and M. microti.Other known pathogenic mycobacterium include Mycobacterium leprae, Mycobacterium avium and M. kansasii. The last two are part of the nontuberculous mycobacteria (NTM) group but are responsible for some pulmonary diseases

SYMPTOMS:-Cough that lasts 3 weeks or longer, and can bring up blood, Chest pain, Fever Fatigue, Unintended weight loss, Loss of appetite, Chills and night sweats.

DIAGNOSIS:-A complete medical evaluation for tuberculosis (TB) must include a medical history, a physical examination, a chest X-ray and microbiological examination (of sputum or some other appropriate sample).It may also include a tuberculin skin test, other scans and X-rays, surgical biopsy. Two tests are available: the Mantoux and Heaf tests.

Mantoux skin test: The Mantoux test for TB involves intradermally injecting PPD (Purified Protein Derivative) tuberculin and measuring the size of induration 48-72 hours later..

Heaf test: A Heaf gun is used to inject multiple samples of testing serum under the skin at once. The needle points are dipped in tuberculin purified protein derivative (PPD) and pricked into the skin. A Heaf gun with disposable single-use heads is recommended. The gun injects purified protein derivative equivalent to 100,000 units per ml to the skin over the flexor surface of the left forearm in a circular pattern of six. The test is read between 2 and 7 days later. The equivalent Mantoux test positive levels done with 10 TU (0.1 ml 100 TU/ml, 1:1000) are 0–4 mm indurations (Heaf 0 to 1); 5–14 mm indurations’ (Heaf 2) ;Greater than 15 mm indurations (Heaf 3 to 5).

TREATMENT: - First-line anti-tuberculosis drug include, Ethambutol, isoniazid, pyrazinamide, rifampicin,Streptomycin. Apart from these there are six classes of second-line drugs (SLDs) used for the treatment of TB include amino glycosides: e.g., amikacin, kanamycin,

Polypeptides: e.g., capreomycin, viomycin, enviomycin;

Fluoroquinolones: e.g., ciprofloxacin, levofloxacin, moxifloxacin;

Thioamides: e.g. ethionamide, prothionamide

Cycloserine

P-amino salicylic acid. Other drugs that may be useful are rifabutin, macrolides: e.g, clarithromycin,

Linezolid; thioacetazone;

PREVENTION:-TB prevention and control takes two parallel approaches. In the first, people with TB and their contacts are identified and then treated. Identification of infections often involves testing high-risk groups for TB. In the second approach, Calmette–Guérin bacillus vaccine is recommended for infants and children who test negative to purified protein derivative, who are continually and intimately exposed to contagious adults or to adults with TB. However, in tropical areas where the levels of other species of mycobacterium are high, exposure to nontuberculous mycobacterium gives some protection against TB. Some of the different medications in the possible prevention of Tuberculosis include: BCG vaccine, TheraCys, TICE, BCG, ImmuCyst, Oncotice, Pacis etc.

WILLIAM’S SYNDROME

INTRODUCTION:-Williams’s syndrome is a rare congenital disorder characterized by physical and development problems. It is characterized by mental retardation, facial abnormalities and emotional instability.

CAUSES:-William’s syndrome is caused by the deletion of genetic material from the region q11.23 of chromosome 7.The deleted region includes more than 25 genes, and researchers believe that the loss of several of these genes probably contributes to the characteristic features of this disorder. CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams’s syndrome.

SYMPTOMS:-Typical facial appearance (elfin facies) is the most characteristic feature of this syndrome. Delayed growth, feeding difficulty, failure to thrive, colic, otitis media, and mental retardation are the early symptoms in infancy. Developmental disabilities and cardiovascular complications become apparent later in childhood. Hypertension, gastrointestinal problems, and genitourinary disorders usually complicate adult development. The phenotype may overlap with hypercalcemia with or without mental retardation and supravalvular aortic stenosis with or without mental retardation.

DIAGNOSIS:-Tests for William’s syndrome:

Blood pressure check

Blood test for missing chromosome (FISH test)

Echocardiography combined with Doppler ultrasound

Kidney ultrasound

TREATMENT:-There is no cure for Williams’s syndrome. Suggestions include avoiding taking extra calcium and vitamin D, and treating high levels of blood calcium, if present. Blood vessel narrowing can be a significant health problem as well, and is treated on an individual basis. Physical therapy is helpful to patients with joint stiffness. Developmental and speech therapy can also help these children. Other treatments are based on a patient's particular symptoms.

PREVENTION:-There is no known way to prevent the genetic problem that causes Williams syndrome. Prenatal testing is available for couples with a family history of Williams’s syndrome who wish to conceive.

TRISOMY SYNDROME

INTRODUCTION:-A trisomy is a genetic abnormality in which there are three copies, instead of the normal two, of a particular chromosome. A trisomy is a type of aneuploidy (an abnormal number of chromosomes) .Full trisomy" means that an entire extra chromosome has been copied. "Partial trisomy" means that there is an extra copy of part of a chromosome.Trisomies are sometimes characterized as "Autosomal trisomies" (trisomies of the non-sex chromosomes) and "Sex-chromosome trisomies." Autosomal trisomies are described by referencing the specific chromosome that has an extra copy. Most common types of autosomal trisomy that survive to birth in humans are: Trisomy 21 (Down syndrome) Trisomy 18 (Edwards syndrome) Trisomy 13 (Patau syndrome) ,Trisomy 12 (Chronic Lymphocytic Leukemia) ,Trisomy 9, Trisomy 8 (Warkany syndrome 2) ,Trisomy 22

 CAUSES:-The number of chromosomes is different for different species. Human beings have 46 chromosomes (i.e. 23 pairs of chromosomes). Human gametes have only 23 chromosomes. If the chromosome pairs fail to separate properly during cell division the egg or sperm may have a second copy of one of the chromosomes. (See non-disjunction.) If such a gamete results in fertilization and an embryo, the resulting embryo may also have an entire copy of the extra chromosome. Trisomy can also be caused by a rearrangement of the chromosomes inside the person's cells. This is known as translocation and it is inherited from one of the parents

SYMPTOMS:-Cleft lip or palate, Clenched hands (with outer fingers on top of the inner fingers)Close-set eyes -- eyes may actually fuse together into one, Decreased muscle tone ,Extra fingers or toes (polydactyly),Mental retardation, severe, Scalp defects (missing skin),Seizures, Small head (microcephaly),Undescended testicle (cryptorchidism)

DIAGNOSIS:-Before birth MRI, Ultrasound, CT, X-ray, and genetic testing can detect the presence of trisomy 18.Chromosome studies show trisomy 13, trisomy 13 mosaicism, or partial trisomy.

 TREATMENT:-Treatment of this syndrome focuses on the particular physical problems with which each child is born. Many infants have difficulty surviving the first few days or weeks due to severe neurological problems or complex heart defects. Surgery may be necessary to repair heart defects or cleft lip and cleft palate. Physical, occupational, and speech therapy will help individuals with Patau syndrome reach their full developmental potential.

 PREVENTION:-Parents of infants with trisomy 13 that is caused by a translocation should have genetic testing and counseling, which may help them avoid having another child with the condition.

Varicose Veins

INTRODUCTION: - When these veins become enlarged, swollen and twisted, this abnormality in the structure of the veins is referred to as varicose veins. Varicose veins appear as protruding and enlarged lines on the skin. The color of the veins changes to blue or bluish-purple. Though varicose veins could occur anywhere in the body, but these can mostly be found in legs

CAUSES: - Varicose veins are caused due to the breakdown of the valve system in the veins. The development of varicose veins could be the result of inherited genetic characteristics, the aging process, pregnancy, hormonal imbalances, obesity or vocation-related stress on leg veins, like having to stand for long periods of time. Women who are pregnant or overweight are at an increased risk of developing varicose veins.

SYMPTOMS:-Feeling of heaviness in the legs.

Telangiectasia or spider veins.

Swelling of the ankle.

Stasis dermatitis or venous eczema.

Lipodermato sclerosis.

Restless legs syndrome.

Atrophy Blanche.

Besides these varicose vein pains, swelling, tingling, throbbing, fatigue and muscle cramps are other symptoms associated with this medical condition. Sometimes, there could also be blood clotting in these superficial veins. In case of women, the symptoms may aggravate during menstruation.

DIAGNOSIS: - Importance between effects of the light in skin surface for the diagnosis in patients committed with varicose veins. It was proved that the Translumination in Phebology can be an aid for diagnosis. Ultrasound of the veins can assist in evaluating the varicose veins. Ultrasound can help in delineating the anatomy of the veins involved. Doppler ultrasound (a device which can detect and measure blood flow) may also provide additional information such as the competency of and flow through the valves in the perforating and the deeper veins. This information is especially useful if surgery or other procedures are being considered.

TREATMENT:-Varicose veins could be treated with any of the following procedures:

Non-surgical treatments like sclerotherapy (directly injecting medicine into the affected veins), wearing of special elastic stockings and regular exercise.

Surgical treatments like vein stripping (removing the saphenous vein mass), radiofrequency ablation and endovenous laser treatment.

The symptoms can be controlled with the help of anti-inflammatory medication, like aspirin and ibuprofen.

Topical applications for thrombophlebitis and compression hosiery help to contain the condition.

PREVENTION:-Prevention of varicose veins may be accomplished by periodic leg elevation, avoidance of prolonged standing, and wearing elastic support hose. Regular exercise and control of weight can also be beneficial. These measures can prevent or slow down the progression of varicose veins.