Skip to main content

Posts

Showing posts from September, 2024

GENE THERAPY SE DIKHAYI DENE LAGI BEHTAR VISION CONGENITAL BLINDNESS MEIN

  GENE THERAPY SE DIKHAYI DENE LAGI BEHTAR VISION CONGENITAL BLINDNESS MEIN   Ek naye gene therapy, ATSN-101, ne rare congenital blindness ke ek type, Leber congenital amaurosis (LCA) 1, se peedit bade aur bacchon mein roshni ko mehsoos karne aur vision ko behtar banane ke promising results dikhaye hain. Ye LCA, GUCY2D gene mein mutation ke kaaran hoti hai. “The Lancet”mein chhapi ek early-phase clinical trial mein 15 patients ko shaamil kiya gaya aur roshni ko mehsoos karne mein khaas sudhar dekha gaya. Is trial ke dauran, 12 mahine ke ilaj ke baad, jinhonne therapy ka sabse highest dose liya unmein nazar ke bareek tafseel (fine details) dekhne ki kshamata mein sudhar dikha. Example ke taur par, patients ne eye test chart par lagbhag 8 letters behtar dekhe, jo ETDRS chart ke lagbhag 2 lines ke barabar hai. Halanki nazar ki tez kshamata (acuity) mein sudhar chhote the, lekin roshni ko mehsoos karne ki kshamata, khaaskar retine ke rods aur cones mein, sabse khaas baat thi. Dr. A

GENE THERAPY SHOWS IMPROVEMENT IN VISION FOR CONGENITAL BLINDNESS

  GENE THERAPY SHOWS IMPROVEMENT IN VISION FOR CONGENITAL BLINDNESS   A new gene therapy, ATSN-101, has shown promising results in improving vision and light detection in both adults and children with a rare form of congenital blindness called Leber congenital amaurosis (LCA) 1. This type of LCA is caused by mutations in the GUCY2D gene. The early-phase clinical trial, published in “The Lancet”, involved 15 patients and demonstrated significant improvements, particularly in light detection. In this trial, after 12 months of treatment, patients who received the highest dose of the therapy showed improved ability to see finer details. For example, there was an improvement of about 8 letters on an eye test chart, which equates to nearly two lines on the Early Treatment Diabetic Retinopathy Study (ETDRS) chart. While the improvements in visual sharpness (acuity) were modest, the ability to detect light, especially in long-dormant photoreceptors (rods and cones in the retina), was the

Night owls (late chronotypes)

 Night owls (late chronotypes) Night owls, yaani jo log late raat tak jaagte hain (inko late chronotypes kehte hain), unmein type 2 diabetes (T2D) ka risk zyada ho sakta hai, aur ye risk unhealthy lifestyle se bhi zyada ho sakta hai. European Association for the Study of Diabetes (EASD) 2024 Annual Meeting ek research mein kehta hai ki late-night sleepers ko early risers ke comparison mein lagbhag 50% zyada chances hote hain T2D develop karne ke. Dr. Jeroen van der Velde, Leiden University Medical Center, Netherlands se, jo is study ko lead kar rahe the, unhone bataya, "Ye risk jitna humne expect kiya tha, usse zyada tha, lekin kuch aur factors bhi ho sakte hain jo is result ko influence karte hain." Pehle ki studies mein late chronotypes ko poor lifestyle habits, obesity, aur heart se judi bimariyon se link kiya gaya tha. Is study ne confirm kiya ki night owls ka waist size bada hota hai aur unmein zyada visceral fat hota hai. Lekin Dr. van der Velde ne kaha ki lifestyle

Night owls (late chronotypes)

  Night owls (late chronotypes) Night owls, or individuals with late sleep patterns (known as late chronotypes), may face a higher risk of developing type 2 diabetes (T2D),   even beyond the effects of an unhealthy lifestyle. Research presented at the European Association for the Study of Diabetes (EASD) 2024 Annual Meeting found that night owls were nearly 50% more likely to develop T2D compared to early risers. Dr. Jeroen van der Velde, from Leiden University Medical Center in the Netherlands, who led the study, said, "The increased risk was larger than anticipated, although other factors might have influenced the results." Previous studies have linked late chronotypes with poor lifestyle habits, obesity, and cardiometabolic diseases. This study confirmed that night owls tend to have larger waist sizes and more visceral fat, but Dr. van der Velde emphasized that lifestyle alone doesn't fully explain the connection between late chronotype and metabolic disorders. M

Sweet syndrome (Diagnosis, Management)

  DIAGNOSIS OF SWEET SYNDROME Diagnosis is based on symptoms and tissue samples (biopsy). A key feature of Sweet Syndrome is that the skin lesions heal without scarring, and there’s no blood vessel inflammation in the tissue samples. This is important because it might indicate other serious illnesses, like cancer, and early diagnosis and treatment are critical. CLASSIC OR IDIOPATHIC SWEET SYNDROME: To diagnose this, both "major criteria" and at least two "minor criteria" need to be met. Major Criteria :   1. Sudden onset of painful red bumps or lumps, sometimes with blisters or other skin changes.   2. Biopsy shows white blood cell infiltration without blood vessel inflammation.   Minor Criteria:   1. Associated with an underlying condition like an infection, vaccination, inflammatory disease, cancer, or pregnancy.   2. Fever above 38°C (100.4°F).   3. Abnormal lab results, such as elevated ESR (inflammation marker), high C-reactive protein, incr

Sweet syndrome (Diagnosis, Management)

  DIAGNOSIS OF SWEET SYNDROME Sweet syndrome ka diagnosis symptoms aur tissue samples (biopsy) ke basis par hota hai. Is syndrome ki ek khaas baat yeh hai ki skin ke ghaav bina daag ke theek ho jaate hain, aur tissue samples mein blood vessel inflammation nahi hoti. Yeh isliye important hai kyunki yeh kisi aur serious bimari, jaise cancer, ka indication ho sakta hai, aur jaldi diagnosis aur treatment zaroori hai. CLASSIC YA IDIOPATHIC SWEET SYNDROME: Iska diagnosis karne ke liye "major criteria" aur kam se kam do "minor criteria" meet karni hoti hain. Major Criteria:   1. Ekdum se dardnaak laal danay ya dher saare chhote bumps, kabhi kabhi blisters ya skin mein doosre badlav ke saath.   2. Biopsy dikhati hai ki white blood cells skin mein gather ho gaye hain, bina blood vessels mein inflammation ke. Minor Criteria:   1. Koi underlying condition jaise infection, vaccination, inflammatory disease, cancer, ya pregnancy se sambandh.   2. Bukhaar 38°C (

Sweet syndrome (Etiology, Epidemiology, Prognosis, Clinical history, Physical examination)

  Etiology of Sweet Syndrome Sweet syndrome (acute febrile neutrophilic dermatosis) has numerous potential causes, categorized by subtype: 1. Classic or Idiopathic Sweet Syndrome     The most common type, accounting for 71% of cases, typically occurs without a clear underlying condition. Approximately 2% of cases are linked to pregnancy. 2. Malignancy-Associated Sweet Syndrome Hematologic cancers (especially acute myeloid leukemia) are most frequently linked to Sweet syndrome. Other malignancies include myelodysplasia, chronic myelogenous leukemia, and nonmyeloid cancers like genitourinary, breast, and gastrointestinal tumors. 3. Infection-Related Sweet Syndrome Bacterial infections (e.g., Streptococcus pneumoniae, Staphylococcus, Salmonella), fungal infections (e.g., coccidioidomycosis), and viral infections (HIV, hepatitis, CMV) have been associated with the syndrome. 4. Drug-Induced Sweet Syndrome Medications such as G-CSF, all-trans retinoic acid (ATRA), and trime

Sweet syndrome (Etiology, Epidemiology, Prognosis, Clinical history, Physical examination)

  SWEET SYNDROME KI ETIOLOGY (KAARAN): 1. Classic ya Idiopathic Sweet Syndrome: Yeh sabse common type hai, jismein 71% cases aate hain. Isme koi clear underlying condition nahi hoti hai. Pregnancy se related lagbhag 2% cases hote hain. 2. Malignancy-Associated Sweet Syndrome: Yeh zyada tar hematologic cancers se linked hoti hai, jaise acute myeloid leukemia. Dusre cancers, jaise genitourinary, breast, aur gastrointestinal cancers bhi link ho sakte hain. 3. Infection-Related Sweet Syndrome: Bacterial infections (jaise Streptococcus pneumoniae, Staphylococcus, Salmonella), fungal infections (jaise coccidioidomycosis), aur viral infections (HIV, hepatitis, CMV) isse related ho sakti hain. 4. Drug-Induced Sweet Syndrome: Kuch medications jaise G-CSF, all-trans retinoic acid (ATRA), aur trimethoprim-sulfamethoxazole se bhi yeh syndrome ho sakta hai. Kai aur drugs, jaise antibiotics, immunosuppressants, aur vaccines bhi implicated hain. 5. Systemic Disorder-Related Sweet Syndrome:

Sweet syndrome (Introduction, Types, Pathophysiology)

  Acute Febrile Neutrophilic Dermatosis (Sweet Syndrome) Introduction Sweet Syndrome (SS), ya acute febrile neutrophilic dermatosis, ko pehli baar Robert Douglas Sweet ne 1964 mein describe kiya tha. Ye ek reactive process hai jo achanak se tender, red-to-purple papules aur nodules ke saath hota hai, jo aksar plaques banate hain. Ye lesions zyadatar upper extremities, face, ya neck par hote hain. Is dermatologic condition ke saath fever aur elevated neutrophil levels (peripheral neutrophilia) bhi dekhe jaate hain. Sweet syndrome ko teen types mein categorize kiya gaya hai based on underlying cause: 1. Classic ya Idiopathic Sweet Syndrome Ye sabse common form hai, jo predominantly young women ko affect karta hai aur aksar mild respiratory illness ke baad hota hai. Iska association pregnancy, inflammatory bowel disease (IBD), vaccinations, inflammatory conditions, aur infections se bhi ho sakta hai. 2. Malignancy-Associated Sweet Syndrome   Ye form underlying malignancy ke

Sweet syndrome (Introduction, Types, Pathophysiology)

  Acute Febrile Neutrophilic Dermatosis (Sweet Syndrome) Introduction Sweet syndrome (SS), or acute febrile neutrophilic dermatosis, was first described by Robert Douglas Sweet in 1964. It is a reactive process characterized by the sudden onset of tender, red-to-purple papules and nodules that often merge to form plaques, usually occurring on the upper extremities, face, or neck. This dermatologic condition is often associated with fever and elevated neutrophil levels in the blood (peripheral neutrophilia). Sweet syndrome is categorized into three types based on the underlying cause: 1. Classic or Idiopathic Sweet Syndrome This is the most common form, predominantly affecting young women and often following a mild respiratory illness. It may also be associated with pregnancy, inflammatory bowel disease (IBD), vaccinations, other inflammatory conditions, and infections. 2. Malignancy-Associated Sweet Syndrome This form occurs alongside an underlying malignancy, sometimes b

Chronic neck pain

  Chronic Neck Pain: A Primary Care Approach Neck pain bahut hi common hai, aur ise hum teen main types mein divide karte hain: 1. Mechanical Neck Pain Ye sabse zyada commonly dekhi jaane wali neck pain hai jo primary care centre mein aati hai. Patients ko generally localized neck pain hota hai jo kisi aur jagah radiate nahi karta. Zyada tar ye pain neck ke center mein hota hai. Symptoms: Localized pain jo neurological deficits ke bina hota hai, jaise weakness ya numbness nahi hoti. Agar aap us jagah ko press karte ho jaha "ouch" feel hota hai, toh wohi area problematic hota hai. Etiology: Exact cause clear nahi hota, lekin myofascial ya musculoskeletal strain se related hota hai. Management: Ye pain time ke sath apne aap theek ho jaata hai, chahe aap koi intervention karein ya na karein. Common treatments mein NSAIDs (painkillers), physical therapy, aur massage include hain. Physical therapy helpful ho sakti hai taaki patient apni posture aur movement ko sudha