Skip to main content
All Posts By

Clinic Hours

Clinic Hours
In Article

Saliva test for diagnosing endometriosis

The prospective ENDO-miRNA study included saliva samples obtained from women with chronic pelvic pain suggestive of endometriosis. Exploratory procedures were performed to look for lesions. All the patients underwent either a laparoscopic procedure (therapeutic or diagnostic laparoscopy) and/or MRI imaging. For the patients who underwent laparoscopy, diagnosis was confirmed by histology. For the patients diagnosed with endometriosis without laparoscopic evaluation, all had MRI imaging with features of deep endometriosis.

The respective sensitivity & specificity for the diagnostic miRNA signature were 96.7%, 100% respectively.

The study’s results support the use of a saliva-based miRNA signature for diagnosing whether a patient is discordant/complex (chronic pelvic pain suggestive of endometriosis and both negative clinical examination and imaging findings) or has early-stage or advanced-stage endometriosis.

Source: Medscape

Clinic Hours
In Medical Cases

Langerhans-cell histiocytosis case

History: A female infant delivered at term had a “blueberry muffin” rash at birth. Laboratory tests and imaging studies were normal. Skin biopsy showed a dense infiltrate of cells with kidney-shaped nuclei and positive S100+ and CD1a+ on immunohistochemistry. What is the most likely diagnosis?

Answer:

Langerhans cell histiocytosis (LCH) is an abnormal clonal proliferation of Langerhans cells, abnormal cells deriving from bone marrow and capable of migrating from the skin to lymph nodes.

Symptoms range from isolated bone lesions to multisystem disease. LCH is part of a group of syndromes called histiocytoses, which are characterized by an abnormal proliferation of histiocytes.

The disease has gone by several names, including Hand–Schüller–Christian disease, Abt-Letterer-Siwe disease, Hashimoto-Pritzker disease (a very rare self-limiting variant seen at birth) and histiocytosis X, until it was renamed in 1985 by the Histiocyte Society.

Diagnosis: Assessment of endocrine function and bone marrow biopsy is also performed when indicated. S-100 protein, CD1a, langerin (CD207).

Treatment: Radiation therapy or chemotherapy

Source: NEJM, Wikipedia
Clinical Rounds by ClinicHours
Clinic Hours
In FDA Updates

FDA approves new immunotherapy for metastatic melanoma

The FDA approved a combination nivolumab/relatlimab-rmbw immune checkpoint inhibitor (Opdualag) for unresectable or metastatic melanoma in adults and children 12 years or older.

Dose: 480 mg nivolumab + 160 mg relatlimab IV every 4 weeks.

Adverse effects: Musculoskeletal pain, fatigue, rash, pruritus, and diarrhea were the most common adverse reactions with combination nivolumab/relatlimab, occurring in 20% or more of RELATIVITY-047 trial participants. Adrenal insufficiency, anemia, colitis, pneumonia, and myocardial infarction were the most frequent serious adverse reactions, but each occurred in less than 2% of patients. There were three fatal adverse events in the trial due to hemophagocytic lymphohistiocytosis, acute lung edema, and pneumonitis.

Source: BMS
Clinic Hours
In Medical Cases

Ehlers Danlos Syndrome case

A 20-year-old male presented to an outpatient headache clinic with a 10-year history of headache, which had become daily over the past 3 months and awakened her in the middle of the night. Past history also revealed chronic musculoskeletal pain, syncope, fatigue, and hypermobility of joints.

Ehlers–Danlos syndromes (EDS) are a group of thirteen genetic connective-tissue disorders that are in the current classification, with a fourteenth type discovered in 2018.

Symptoms may include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. These may be noticed at birth or in early childhood.

Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis.

EDS occurs due to variations of more than 19 genes that are present at birth.[1] The specific gene affected determines the type of EDS. Some cases result from a new variation occurring during early development, while others are inherited in an autosomal dominant or recessive manner. Typically, these variations result in defects in the structure or processing of the protein collagen.

Diagnosis is often based on symptoms and confirmed with genetic testing or skin biopsy but people may initially be misdiagnosed with hypochondriasis, depression, or chronic fatigue syndrome.

No cure is currently known and treatment is supportive in nature. Physical therapy and bracing may help strengthen muscles and support joints. While some forms of EDS result in a normal life expectancy, those that affect blood vessels generally decrease it.

Source: Wikipedia
Clinical Rounds by ClinicHours
Clinic Hours
In FDA Updates

FDA approves Anifrolumab as first new Lupus treatment in more than 10 years

Anifrolumab, an inhibitor of type 1 interferons, received approval from the Food and Drug Administration for the treatment of adults with moderate to severe systemic lupus erythematosus (SLE) who are receiving standard therapy.

Dose: 300 mg concentrate for solution for infusion.

Adverse Effects: The most common adverse reactions are upper respiratory tract infection, bronchitis, infusion-related reaction, and herpes zoster. The most common serious adverse reaction was herpes zoster.

Source: FDA

Clinic Hours
In FDA Updates

First drug for cold agglutinin disease

The US FDA approves first drug for Cold Agglutinin Disease. Sutimlimab-jome (Brand name: ENJAYMO) is a classical complement inhibitor indicated to decrease the need for red blood cell (RBC) transfusion due to hemolysis in adults with cold agglutinin disease.

Dose:  Injection: 1,100 mg/22 mL (50 mg/mL) in a single-dose vial

Adverse effects: Most common adverse reactions (incidence ≥10%) are respiratory tract infection, viral infection, diarrhea, dyspepsia, cough, arthralgia, arthritis, and
peripheral edema.

Source: FDA

Clinic Hours
In FDA Updates

First treatment for rare Uveal Melanoma

The drug is tebentafusp-tebn (Kimmtrak, from Immunocore Limited), which acts as a bispecific gp100 peptide-HLA-directed CD3 T-cell engager. It is the first of a novel class of T-cell receptor (TCR) bispecific immunotherapies under development at the company.

It is also the first and only therapy for the treatment of unresectable or metastatic uveal melanoma to be approved by the FDA, and it is the first therapy to demonstrate a survival benefit to patients with this disease. However, the indication specifies that the drug is for use only in patients who are HLA-A*02:01-positive.

Source: Immunocore

Clinic Hours
In Medical Cases

Pellagra case

History: A 14 yr female presented to ED with 6 weeks h/o well-defined darkening and thickening of the hands, feet, ankles, neck, and the upper trunk region including upper chest and back. She had similar lesions but milder form on lips and periorbital region. The affected area of the skin was said to get exacerbated after exposure or re-exposure to sunlight. She also complaint of recurrent episodes of passage of loose watery stools. What’s the diagnosis?

Pellagra is a disease caused by a lack of vitamin niacin (vitamin B3).

Symptoms include inflamed skin, diarrhea, dementia, and sores in the mouth. Areas of the skin exposed to either sunlight or friction are typically affected first. Over time affected skin may become darker, stiffen, peel, or bleed.

There are two main types of pellagra, primary and secondary.

Primary pellagra is due to a diet that does not contain enough niacin and tryptophan.

Secondary pellagra is due to a poor ability to use niacin within the diet. This can occur as a result of alcoholism, long-term diarrhea, carcinoid syndrome, Hartnup disease, and a number of medications such as isoniazid. Diagnosis is typically based on symptoms and may be assisted by urine testing.

Treatment is with either niacin or nicotinamide supplementation. Improvements typically begin within a couple of days. General improvements in diet.

Image by PubMed
Clinical Rounds by ClinicHours
Clinic Hours
In 1 min

Vitamin D supplementation did not decrease the risk of cancer or CVD

Vitamin D supplementation did not appear to influence the incidence of cancer or major cardiovascular disease (CVD) events in older adults who largely already had adequate vitamin D levels, according to a new randomized controlled study. In the cohort of nearly 2500 healthy individuals, the researchers found no differences in cancer or CVD incidence over 5 years between the groups randomly assigned to vitamin D supplementation and to placebo.

Source: The American Journal of Clinical Nutrition

Clinic Hours
In Medical Cases

Putty kidney case

History: A 46-year-old woman presented with symptoms of urgency, frequency and urge-incontinence for 2 years with h/o of fever. Her urine was acidic with few pus cells, but sterile on culture. Other laboratory tests were normal. Ultrasonography suggested hydronephrotic right kidney with internal echoes. X-ray KUB show multiple lobulated calcifications in the right renal region conglomerated into the shape of the kidney.

Extensive parenchymal calcification in a non functioning kidney forming its cast is called a ‘putty kidney’ which is a characteristic of end-stage renal TB.

Symptoms: Persistent cystitis, unresponsive to antibiotics, ↑urinary frequency, dysuria, loin discomfort, malaise, fever, weight loss, ulcer.

Diagnosis: USG, Xray KUB, CECT scan

Treatment: ATT

Image by: BMJ
error: