research Poster 148 Severe Hair Loss during Inpatient Rehabilitation due to Telogen Effluvium: A Case Report
A woman had temporary hair loss due to stress from a spinal cord injury.
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180-210 / 1000+ results research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
This study reports on a Pakistani family with three individuals affected by IFAP syndrome type I, linked to the recurrent MBTPS2 splice-site variant c.970+5G>A. This variant has also been identified in Chinese and Argentinian families. Haplotype analyses indicate that this is a recurrent mutational hotspot rather than a result of a founder effect. The study also notes variability in phenotypic severity among the families, suggesting the presence of additional modifying factors.
research Abstracts of 28th Year Annual Meeting of Turkish Society of Neuroradiology with International Participation, Conrad Istanbul Bosphorus, Istanbul, Turkey, February 15-17, 2019
MRI helps distinguish between pituitary adenomas and craniopharyngiomas, guides treatment for pediatric CNS tumors, and assesses rhinocerebral mucormycosis with a high mortality rate in transplanted patients.
research Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
Some children in Malaysia with symptoms have either profound or partial biotinidase deficiency, and early testing and treatment are important.
research 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research Trichoblastic Carcinoma (“Malignant Trichoblastoma”) with Lymphatic and Hematogenous Metastases
Long-standing benign tumors can become cancerous, especially in people with weakened immune systems.
research TRICHOTILLOMANIA WITH GIANT GASTRIC TRICHOBEZOAR IN A FEMALE CHILD: A CASE REPORT
An 11-year-old girl with Trichotillomania developed a large hairball in her stomach, treated with medication, therapy, and family education.
research Incidence of alopecia in brain tumour patients treated with pencil scanning proton therapy and validation of existing NTCP models
A standardized scoring system is needed to improve model reliability for predicting hair loss in brain tumor patients treated with proton therapy.
research Repetitive Transcranial Magnetic Stimulation for Treatment of Trichotillomania: Case Series
rTMS may help treat trichotillomania in some patients.
research S3301 Abnormal Liver Enzymes in Thymoma-Associated Multiorgan Autoimmunity
Thymoma-associated multiorgan autoimmunity can cause liver damage and affects multiple organs, with limited treatment options and a generally poor prognosis.
research Telogen Effluvium With Dysesthesia (TED) Has Lower B12 Levels and May Respond to B12 Supplementation
People with TED often have low B12 levels and might benefit from B12 supplements.
research BCG'osis
A three-year-old girl survived a rare serious infection caused by BCG vaccination, which improved after treatment with a leprosy drug.
research Temporal Triangular Alopecia: Report of an African‐American Child with TTA Misdiagnosed as Refractory Tinea Capitis
A child was initially wrongly diagnosed with a fungal scalp infection but actually had a non-scarring hair loss condition called Temporal Triangular Alopecia.
research Recombinant Thrombomodulin Used to Successfully Treat Cronkhite-Canada Syndrome with Disseminated Intravascular Coagulation due to Sepsis in a Compromised Patient
Recombinant thrombomodulin can effectively treat severe complications in Cronkhite-Canada syndrome.
research Two-year follow-up of two patients after severe thallium intoxication
Hair loss and polyneuropathy improved, but severe vision impairment persisted.
research Balint’s syndrome—missed or mistaken?
The document concludes that early diagnosis of Balint's syndrome is crucial for effective treatment and that understanding drug interactions, like between ritonavir and statins, is important for patient care.
research Beta thalassemia revealing hypothyroidism: A case report
Frequent blood transfusions in beta thalassemia patients can lead to thyroid problems.
research Faculty Opinions recommendation of Identification of drug-specific public TCR driving severe cutaneous adverse reactions.
Researchers found a specific T cell receptor linked to severe drug reactions like Stevens-Johnson syndrome when patients take carbamazepine.
research A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
research A genetically informed brain atlas for enhancing brain imaging genomics
GIANT improves brain imaging by using genetics to better map brain regions.
research “Prick or treat”: a case of systemic reaction during intradermal tests with beta-lactams
Longer treatment with vismodegib lowers relapse risk in basal cell carcinoma.
research Trichothiodystrophy -A Case Report-
Trichothiodystrophy causes unusual hair and developmental issues.
research Assessment of the therapeutic efficacy of botulinum toxin in male androgenetic alopecia
Botulinum toxin injections do not help with male pattern baldness.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Beta thalassemia revealing hypothyroidism: A case report
Frequent blood transfusions in beta thalassemia can lead to thyroid problems.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Serious Delayed Hair Toe Tourniquet Syndrome with Bone Erosion and Flexor Tendon Lesion
A baby's toe was severely damaged by a hair tourniquet, leading to bone and tendon damage, but improved after surgery and treatment.
research Trichothiodystrophy: Current Concepts
TTD patients don't have a higher skin cancer risk because their main issue is with transcription, not DNA repair.
research Tuberous sclerosis: Clinical findings in 57 patients
Most patients with Tuberous sclerosis had neurological or skin issues, and over half had psychiatric problems.
research Onabotulinum toxin A used to treat trichotillomania and trigeminal trophic syndrome
Onabotulinum toxin A may help treat trichotillomania and promote hair growth.