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Smith-Lemli-Opitz Syndrome Health Feed

premenstrual syndrome

Dr. Kamaksha Prasad 91% (1933 ratings)
DSTD,MBBS
Sexologist, Howrah
premenstrual syndrome
nearly all women suffers some mood changes/breast pain/abdominal pain/hot flushes headache, fatigue, insomnia, bloating, uncontrollable food cravings, irritability, depression, feelings of loneliness, rejection … days just before their periods. sexual desires also changes in those days. so, irritation/ feel of unsatisfaction wipe off the peace of mind..
its due to sex hormone changes in your body during that time mainly estrogen & FSH.
try to control your emotion by doing yoga- it acts like miracle. eyes closed & deep breathing in & out in the early morning makes you calm & control your sex steroid releasing hormones through hypothalamus.slow body twisting improves your circulation in lower abdominal organs.
for abdominal/breast pain-try to use home remedies like cold compress/ cold cod oil massage.
diet- raw onion and pumpkin seeds. flaxseed oil, evening primrose oil lavender and tea in the evening. try to have vegetables and fish- avoid meats.
**do not let your hormones to control your mind**
in severe cases, you may need medicines, consult your physician- we are always their to solve your problems.
184 people found this helpful

All About Klinefelter's Syndrome

Dr. Viniita Jhuntrraa 93% (718 ratings)
MBBS
Sexologist, Jaipur
All About Klinefelter's Syndrome

Klinefelter's syndrome is a medical condition, in which a boy is born with an extra copy of the 'X' chromosome. Klinefelter's syndrome has an adverse effect on testicular growth and results in the formation of smaller than normal testicles. This affects the production of the sex hormone testosterone. 

It can also cause lower retention of muscle mass, facial or body hair and enlarged breast tissues. It is difficult for people who are diagnosed with Klinefelter's syndrome to father children because they produce little, or   no sperm and often has to resort to take help from assisted reproductive procedures to procreate.

Symptoms
Generally Klinefelter's syndrome is not diagnosed before adulthood because of the fact that there are few noticeable symptoms, which might indicate Klinefelter's syndrome during infancy, childhood or adolescence period. 

The few characteristics, which might indicate the condition are listed below:

  1. Development of weak muscles
  2. Taking above average time to develop basic motor skills
  3. Delaying in speaking
  4. The testicles haven't descended into the scrotum

Boys and teenagers develop the following characteristics:

  1. They tend to have longer leg and broader hips than their peers
  2. Onset of puberty is delayed or in some cases absent or incomplete
  3. After puberty, less muscular bodies and less facial and body hair compared with other teens
  4. Smaller than average size of penis

Causes

  1. Klinefelter's syndrome occurs due to the occurrence of an extra 'X' chromosome in the cells instead of the normal combination on 'XY' chromosomes. 
  2. In some severe cases, there is the occurrence of more than one extra 'X' chromosome in each cell. 
  3. This is not inherited or a genetic condition. This occurs due to a random error during the formation of the egg , the sperm or post conception.  

Diagnoses and Treatment

  1. Chromosome analysis and hormone testing are the two main ways to diagnose this condition.
  2. Abnormal hormone levels present in blood and urine, might indicate Klinefelter's syndrome.

Early diagnosis and medication minimizes the effects of Klinefelter's syndrome. These include:

  1. Testosterone replacement therapy. In treatment, testosterone is injected at regular intervals from the onset of puberty to ensure normal growth.
  2. Patients also need educational support as well as speech therapy to overcome any barriers the patient is experiencing.
  3. Removal of excess breast tissue and fertility treatment. 
  4. With the help of Intracytoplasmic Sperm injection, it is possible for patients with low sperm production to father children.
3797 people found this helpful

Fibromyalgia Syndrome

FIPM, DNB, MBBS
Pain Management Specialist, Gurgaon
Play video

Causes and treatment for Fibromyalgia Syndrome

Hello friends, main Dr.(major) Vipin Kakar. I am an ENT surgeon. Aaj main aapko kuch aise tips batauga hearing loss ke baare mein, bachho aur bado mein jo aapke bahut kaam aa sakte hai aur aap uspe amal karke uska faida utha sakte hai. Aajkal hearing loss navjaat shishu, jo ek din ka paida hua bachha, usme bhi pata chal jata hai ke hearing loss hai ya nahi hai. Ab hum hearing loss ki kyun baat kar rahe hai?  Kyunki hearing loss ek bahut hi common janam jaat problem hai jo ki 1 lakh mein se 250-400 bachho mein paayi jaati hai.

Agar hum thyroid ki problem ko socho toh wo 1 lakh mein se sirf 40 bachho mein hai, jab ke hearing loss 250-400 bachho mein hai. Toh videsho mein toh koi bhi discharge nahi ho sakta hospital se bina hearing ki jaach karaye. Toh ab hum 1 din ke bachhe ka hearing test karke ye pata laga lete hai ki usko aage treatment ki zarurat hai ya nahi. Ab hume ye jaanna hai ki hum kyun itna jaldi pata lagana chahte hai? Agar treatment hoga utna hi bachhe ko faida hoga. Jo janam se suntan aur bolta nahi hai, wo bachhe ka agar ilaaj der mein karayege toh results bilkul aadhe ho jayege. Aaj ki date mein hearing loss ka ilaaj sambhav hai. Ab hearing loss alag alag cheezon se hota hai toh aap agar apne kisi bachhe mein aapko lagta hai ki hearing loss hai ya wo theek tarah se aawazo pe response nahi de raha hai toh aap kripya karke apne ENT surgeon ke paas jayiye. Hearing loss ki treatment ke liye jis tarah ki bimaari hogi jis wajah se hearing loss hoga use treat kiya jaa sakta hai.

In case, agar usko hearing loss 90% se zada hai jisme hum koi dawai se nahi thik kar sakte toh unke liye aajkal humlog Cochlear implant bhi kar rahe hai. Cochlear implant ke liye ek surgery hai jisme do tarah ki machine lagti hai, ek sir ke andar jo surgery se lagayi jaati hai aur ek machine bahar lagti hai. Bahar wali machine aawaz ko catch karti hai aur andar wali machine ko bhejti hai. Toh kuch saal, therapy ke baad bachha ekdum normal bolne lag jaata hai. Main aapko Cochlear implant ka ek demonstration dena chahta hu. Jo machine andar lagti hai wo toh surgery madhyam se andar lag jayegi lifelong, dusri machine jo bahar lagti hai wo ye ek coin ke jitni hoti hai. Ye coin taqreeban itna bada hota hai aur ye sir mein baalon mein chup jaata hai. Bas itna hi aur ye aawaz catch karke andar wale implant ko bhejta hai aur therapy ke baad aapka bachha, agar aapne timely ilaaj karwaya hai toh woe k normal school mein jaane laayak ho jaata hai.

Kuch bachhe toh itna acha karte hai ke aap pata nahi laga sakte ki unka implant bhi hua hai ya nahi. Lekin har case mein implant nahi ho sakta hai. Kuch hearing loss simple kaan ki machine se bhi thik ho jaate hai aur kuch jinme kaano mein paani bhar jata hai. Toh paani nikaalne se bachha normal sunne lag jata hai. Ab main aapko kuch aisi cheezein videos mein dikhana chaahuga jisse aap dekh kar aapko vishwaas bhi ho jayega ki bachha implant ke baad ek normal school mein jaane laayak ho jata hai aur aapko ye pata lagana bahut hi mushkil hai ke kis bachhe ko implant hua hai aur kaunsa bachha normal hai.
(Another person in a video) Swar clinic mein ek choti si class thi ya conference tha usme bataya gaya ke Bilateral implantation bahar hone shuru ho gaye hai aur agar aap chaahe toh aap apne bachhe ka….aap aayiye, aap suniye ke kya kaha jaa raha hai aur aap decide kijiye. Toh humne wo class attend ki, then and there after the conference, we decided that we will go for this Bilateral Implantation. Aur Bilateral implant 2 saal baad hua, first implant and the second implant, mtlb 4 saal aur 6.5 saal uski age thi jab ye implant hua.

(The kid who got the implant) I thank cochlear implant company and Swar clinic, it is because of the innovation of Cochlear Implant Company and efforts of Swar clinic that I can hear and speak like other children. I am very happy that I am studying in a regular school and talk to my friends comfortably. I am thankful to Dr. Vipin uncle and Dr. Suneeta aunty for their efforts and making me what I am today. I would like to add that I have two implants, with two implants I have no problem in school and I have no fears also. I request all parents to go for Bilateral implant for their children. Thank you.

(Dr. Vipin Kakar in the video again) ab in cheezon ke baad agar aapko apne bachhe mein ya parivaar mein agar aapko koi sunne se related queries hai toh aap Lybrate ke through aap mujhe contact kar sakte hai.
 

3424 people found this helpful

Piriformis Syndrome

Dr. Kirti Yadav 90% (174 ratings)
MSPT (Master of Physical Therapy), BPT
Physiotherapist, Gurgaon
Piriformis Syndrome

Become physically active every day which will improve your posture, muscle strength, and balance and will prevent you from falling.

Know Everything About Asperger's Syndrome!

Ms. Parveen 96% (104 ratings)
Bachelors In Psychology, Masters In Psychology, Post Graduate Diploma In Guidance & Counselling
Psychologist, Jalandhar
Know Everything About Asperger's Syndrome!

Asperger's Syndrome has recently come under the umbrella of Autism Spectrum Disorder. This syndrome usually affects the social skills of the patient, most heavily. The patient may seem normal and even intelligent at first glance. But on closer interaction, several social skill problems will come to the fore including an obsessive focus on certain topics and issues. Repetitive behaviour is also a part of this disease.

Let us find out more about Asperger's Syndrome:

  • Symptoms: The symptoms usually begin to show up early on in one's childhood. The patient will not be able to make eye contact while speaking with others. Also, a perfectly normal person may seem inordinately shy and reserved during social interactions. This awkwardness may come to the fore in the form of looking for expression cues on other people's faces and even the body language. The patient may not be a very happy and lively soul, with hardly a smile to crack at the funniest of jokes. The lack of emotions or the emotionally numb state is also a major giveaway of the condition. Other symptoms may include a strong aversion towards change in food habits and routine.
  • Diagnosis: The diagnosis is usually done by mental health specialists like a developmental paediatrician, a psychiatrist, a psychologist or even a paediatric neurologist. These specialists can put the child through a variety of tests that will study the neurological health as well as the speech and emotional behaviour of the child.
  • Educating the Parent: Once the diagnosis has been done, the parents of the patient will have to appraised of the condition and its implications. The symptoms and treatment will have to be duly discussed even as the parents are put through training and therapy to learn techniques with which they can help the child in progressing along more normal lines. The therapy will also help the parents deal with the challenge of living with someone suffering from this condition.
  • Treatment: There are varied forms of treatment that aim at fixing the specific areas and symptoms that the patient is learning to live with. Social skills training, speech and language therapy, CBT or Cognitive Behavioural Therapy and other forms of treatment can help the child overcome many symptoms that come from this condition.

In the course of the treatment, it is important for the child, parent and therapist concerned to realise that there is no single approach that can be applied to all patients suffering from Asperger's Syndrome. Individual care and therapy will be required for individual cases. At the same time, most of the skills will need to be repeated at home so that the child takes them more seriously.

1 person found this helpful

Piriformis Syndrome

Dr. Punnam Gupta 88% (174 ratings)
Diploma In Physiotherapy, PGCR, Diploma in Sports Medicine
Physiotherapist, Delhi
Piriformis Syndrome

Piriformis Syndrome

1 person found this helpful

Surfing Syndrome!

Dr. Kishore Sabbu 89% (378 ratings)
MBBS, Diploma in Child Health (DCH), MD Internal Medicine
General Physician, Visakhapatnam
Surfing Syndrome!
  • Referring internet extensively regarding health issues is creating confusion and a lot of psychological stress to the persons reading the information.
  • Always consult your doctor whom you believe for your health issues.

Boerhaave Syndrome

Dr. Mirza Nimmat Baig 90% (144 ratings)
md general phisician
General Physician, Hyderabad
Boerhaave Syndrome

Boerhaave first described the spontaneous rupture of the esophagus in 1724. It typically occurs after forceful emesis. Boerhaave syndrome is a transmural perforation of the esophagus to be distinguished from mallory-weiss syndrome, a nontransmural esophageal tear also associated with vomiting. Because it often is associated with emesis, boerhaave syndrome usually is not truly spontaneous. However, the term is useful for distinguishing it from iatrogenic perforation, which accounts for 85-90% of cases of esophageal rupture.
Diagnosis of boerhaave syndrome can be difficult because often no classic symptoms are present and delays in presentation for medical care are common. Approximately one third of all cases of boerhaave syndrome are clinically atypical. Prompt recognition of this potentially lethal condition is vital to ensure appropriate treatment. Mediastinitis, sepsis, and shock frequently are seen late in the course of illness, which further confuses the diagnostic picture.
See can't-miss gastrointestinal diagnoses, a critical images slideshow, to help diagnose the potentially life-threatening conditions that present with gastrointestinal symptoms.
A reported mortality estimate is approximately 35%, making it the most lethal perforation of the gi tract. The best outcomes are associated with early diagnosis and definitive surgical management within 12 hours of rupture. If intervention is delayed longer than 24 hours, the mortality rate (even with surgical intervention) rises to higher than 50% and to nearly 90% after 48 hours. Left untreated, the mortality rate is close to 100%.
 

Pathophysiology
Esophageal rupture in boerhaave syndrome is postulated to be the result of a sudden rise in intraluminal esophageal pressure produced during vomiting, as a result of neuromuscular incoordination causing failure of the cricopharyngeus muscle to relax. The syndrome commonly is associated with overindulgence in food and/or alcohol. The most common anatomical location of the tear in boerhaave syndrome is at the left posterolateral wall of the lower third of the esophagus, 2-3 cm proximal to the gastroesophageal junction, along the longitudinal wall of the esophagus. The second most common site of rupture is in the subdiaphragmatic or upper thoracic area. [1, 2]

Although likely underreported, the incidence of boerhaave syndrome is relatively rare. A 1980 review by kish cited 300 cases in the literature worldwide. [3] a 1986 summary by bladergroen et al described 127 cases. [4] of these, 114 were diagnosed antemortem; the others were diagnosed at autopsy. Overall, boerhaave syndrome accounts for 15% of all cases of traumatic rupture or perforation of the esophagus.
Race-, sex-, and age-related demographics
Cases have been reported in all races and on virtually every continent, affecting males more commonly than females, with ratios ranging from 2: 1 to 5: 1.
Boerhaave syndrome is seen most frequently among patients aged 50-70 years. Reports suggest that 80% of all patients are middle-aged men. However, this condiction has also been described in neonates and in persons older than 90 years. Although no clear explanation exists for this, the least susceptible age group appears to be children aged 1-17 years.
Mortality/morbidity

Prognosis
Prognosis is directly contingent on early recognition and appropriate intervention. Early diagnosis of boerhaave syndrome allows prompt surgical repair. Diagnosis and surgery within 24 hours carry a 75% survival rate. This drops to approximately 50% after a 24-hour delay and approximately 10% after 48 hours.
 

Morbidity/mortality
The mortality rate is high. Esophageal perforation is the most lethal perforation of the gi tract. Survival is contingent largely upon early recognition and appropriate surgical intervention.
Overall, the mortality rate is approximately 30%. Mortality is usually due to subsequent infection, including mediastinitis, pneumonitis, pericarditis, or empyema.
Patients who undergo surgical repair within 24 hours of injury have a 70-75% chance of survival. This falls to 35-50% if surgery is delayed longer than 24 hours and to approximately 10% if delayed longer than 48 hours.
Cases of patients surviving without surgery exist but are rare enough to warrant case reports in the medical literature.
 

Complications
Esophageal rupture may lead to the development of septicemia, pneumomediastinum, mediastinitis, massive pleural effusion, empyema, pneumomediastinum, or subcutaneous emphysema.
If the esophageal rupture extends directly into the pleura, hydropneumothorax is expected. In adults, this occurs more commonly on the left side of the pleura. In neonates, esophageal rupture usually occurs on the right side.
After esophageal rupture, free air enters the mediastinum and also may spread to the adjacent structures, resulting in mediastinal abscess or superimposed secondary infection.
Other complications include acute respiratory distress syndrome, pneumomediastinum, pneumothorax, and hydrothorax.

Klinefelter Syndrome

Dr. Sharath Kumar C 94% (1314 ratings)
Ph.D (Male Infertility), M.S (Infertility), D.G.L.S, D.R.C.O.G, C.Sc., D.M.R.D, M.B.B.S
Sexologist, Bangalore
Klinefelter Syndrome

Klinefelter syndrome, also known as the xxy condition, is a term used to describe males who have an extra x chromosome in most of their cells.

Klinefelter syndrome is named after Dr. Henry klinefelter, who first described a group of symptoms found in some men with the extra x chromosome. About one of every 500 males has an extra x chromosome, but many don't have any symptoms.

Symptoms:

  • Symptoms depend on how many xxy cells a man has, how much testosterone is in his body, and his age when the condition is diagnosed.
  • As xxy males enter puberty, they may have a taller, less muscular body, less facial and body hair, and broader hips than other boys. As teens, xxy males may have larger breasts, weaker bones, and a lower energy level than other boys.
  • Xxy adult males look similar to males without the condition, although they are often taller and may have autoimmune disorders, breast cancer, vein diseases, osteoporosis, and tooth decay.

Fertility:
Xxy males can have normal or subnormal sex lives, but they usually make little or no sperm and are infertile. Some times, they are impotent also.

Treatment:

  • The xxy chromosome pattern cannot be changed. Treatments involve physical, speech, occupational, behavioral, mental health, and family therapists, and testosterone replacement therapy.
  •  Even though all men with klinefelter syndrome have the extra x chromosome, not every xxy male has all of those symptoms. 
  • Because not every male with an xxy pattern has all the symptoms of klinefelter syndrome, it is common to use the term xxy male to describe these men, or xxy condition to describe the symptoms. 
     
1 person found this helpful

What is the syndrome of dengue? What is the syndrome of dengue? What is the syndrome of dengue?

Dr. Jatin Soni 94% (33007 ratings)
MBBS
General Physician, Mumbai
What is the syndrome of dengue?
What is the syndrome of dengue?
What is the syndrome of dengue?
Fever with body pain and joint pain are few initial symptoms of dengue and to be confirmed by a blood test
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