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What's new in your rare disease | Kisho

Not rare diseases news,
news about your rare disease.

Every story we pull is tagged to the disease it’s about — so you can filter to your condition and read only what matters.

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familial chylomicronemia syndromeResearch

A case report details a one-year follow-up of a patient with familial chylomicronemia syndrome, focusing on lipid profile and growth development. This study contributes to understanding the clinical progression of this rare genetic disorder.

case report of familial chylomicronemia syndrome with infantile onset one year follow up on lipid profile and growth development

PubMed Rare Disease·3 months ago·Read at source →

Original title: “A Case Report of Familial Chylomicronemia Syndrome With Infantile Onset: One-Year Follow-Up on Lipid Profile and Growth Development.”

B-cell acute lymphoblastic leukemia precursor B-cell acute lymphoblastic leukemiaResearch

A case report highlights the spontaneous regression of B-cell acute lymphoblastic leukemia (B-ALL) associated with PAX5 alterations during relapse. This finding may provide insights into the mechanisms of leukemia regression and potential therapeutic targets.

spontaneous regression of b cell acute lymphoblastic leukemia with pax5 alterations at relapse a case report

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Spontaneous regression of B-cell acute lymphoblastic leukemia with PAX5 alterations at relapse: a case report.”

idiopathic pulmonary fibrosisResearch

A randomized dose escalation study on inhaled LTI-03 for idiopathic pulmonary fibrosis has been published, providing insights into its potential efficacy. This research contributes to the understanding of treatment options for this challenging condition.

inhaled lti 03 for idiopathic pulmonary fibrosis a randomized dose escalation study

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Inhaled LTI-03 for idiopathic pulmonary fibrosis: a randomized dose escalation study.”

chordoma clivus chordoma+1 moreResearch

A recent study compares various fractionation schemes in carbon ion radiation therapy for sacrococcygeal chordomas. This research could inform treatment protocols and improve patient outcomes for this rare tumor type.

carbon ion radiation therapy of sacrococcygeal chordomas a comparison of different fractionation schemes

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Carbon Ion Radiation Therapy of Sacrococcygeal Chordomas: A Comparison of Different Fractionation Schemes.”

acromegalyResearch

A cross-sectional study evaluates nurses' knowledge and awareness of acromegaly in a high-volume tertiary center. The findings may inform training programs to enhance care for patients with this rare disease.

assessment of nurses knowledge and awareness of acromegaly in a high volume tertiary center a cross sectional study

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Assessment of nurses' knowledge and awareness of acromegaly in a high-volume tertiary center: a cross-sectional study.”

mitochondrial disease HSD10 mitochondrial diseaseResearch

A recent study explores the validity of digital cognitive testing for assessing cognitive function in mitochondrial disease patients. The findings highlight both the potential benefits and challenges of implementing these tests in clinical trials.

digital cognitive testing in mitochondrial disease validity and challenges for clinical trial use

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use.”

neonatal sepsisResearch

A case report highlights early-onset neonatal sepsis caused by Globicatella sanguinis/sulfidifaciens, contributing to the understanding of rare infectious agents in neonates. This discovery may inform future diagnostic and treatment approaches.

early onset neonatal sepsis caused by globicatella sanguinis sulfidifaciens case report

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Early-Onset Neonatal Sepsis Caused by Globicatella sanguinis/sulfidifaciens : Case Report.”

gastrointestinal stromal tumor colorectal gastrointestinal stromal tumor+1 moreResearch

A case report details a small intestinal gastrointestinal stromal tumor coexisting with a retroperitoneal tumor, contributing to the understanding of tumor interactions. This institutional review may provide insights for future research in rare tumor presentations.

small intestinal gastrointestinal stromal tumour with a coexisting retroperitoneal tumour a case report and institutional review

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Small intestinal gastrointestinal stromal tumour with a coexisting retroperitoneal tumour: a case report and institutional review.”

hereditary angioedemaResearch

A rare case study highlights the presentation and diagnosis of hereditary angioedema in a 7-year-old girl, emphasizing the need for improved management strategies. This case contributes to the understanding of hereditary angioedema and its clinical implications.

rare case of hereditary angioedema in a 7 year old girl presentation diagnosis and bridging the management gap

PubMed Rare Disease·3 months ago·Read at source →

Original title: “A Rare Case of Hereditary Angioedema in a 7-Year-Old Girl: Presentation, Diagnosis, and Bridging the Management Gap.”

cervical non-keratinizing squamous cell carcinoma vulvar non-keratinizing squamous cell carcinoma+1 moreResearch

A study expands the clinicopathologic spectrum of DEK::AFF2 fusion sinonasal tract and skull base nonkeratinizing squamous cell carcinoma, analyzing 50 cases. This research provides valuable insights into the characteristics and implications of this rare cancer type.

dek aff2 fusion sinonasal tract and skull base nonkeratinizing squamous cell carcinoma an expanded single center series of 50 cases extending the clinicopathologic spectrum

PubMed Rare Disease·3 months ago·Read at source →

Original title: “DEK::AFF2 Fusion Sinonasal Tract and Skull Base Nonkeratinizing Squamous Cell Carcinoma: An Expanded Single‑Center Series of 50 Cases Extending the Clinicopathologic Spectrum.”

pyoderma gangrenosum pyoderma gangrenosum-acne-suppurative hidradenitis syndromeResearch

A recent study highlights the occurrence of postoperative pyoderma gangrenosum as a rare surgical mimic following varicose vein surgery. Recognizing this condition early is crucial to prevent extensive tissue loss.

postoperative pyoderma gangrenosum following varicose vein surgery recognizing a rare surgical mimic before extensive tissue loss

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Postoperative Pyoderma Gangrenosum Following Varicose Vein Surgery: Recognizing a Rare Surgical Mimic Before Extensive Tissue Loss.”

blue rubber bleb nevusResearch

A case study highlights blue rubber bleb nevus syndrome as a rare cause of severe transfusion-dependent anemia in an elderly patient, leading to lower gastrointestinal bleeding. This unusual presentation underscores the need for awareness of this syndrome in clinical settings.

blue rubber bleb nevus syndrome presenting as severe transfusion dependent anemia in an elderly patient an unusual cause of lower gastrointestinal bleeding

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Blue Rubber Bleb Nevus Syndrome Presenting as Severe Transfusion-Dependent Anemia in an Elderly Patient: An Unusual Cause of Lower Gastrointestinal Bleeding.”

Research

A multinational case series investigates pediatric cerebral sinus venous thrombosis during the first three years of the SARS-CoV-2 pandemic. The study provides insights into the incidence and clinical characteristics of this rare condition in children.

pediatric cerebral sinus venous thrombosis during the first three years of the sars cov 2 pandemic a multinational case series

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Pediatric Cerebral Sinus Venous Thrombosis During the First Three Years of the SARS-CoV-2 Pandemic: A Multinational Case Series.”

pyoderma gangrenosum pyoderma gangrenosum-acne-suppurative hidradenitis syndrome+1 moreResearch

A case report highlights pyoderma gangrenosum as a rare manifestation of myelodysplastic syndrome in a pediatric patient. This finding may enhance understanding of the disease's clinical spectrum.

pyoderma gangrenosum as a rare manifestation of myelodysplastic syndrome in a pediatric patient a case report

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Pyoderma gangrenosum as a rare manifestation of myelodysplastic syndrome in a pediatric patient: A case report.”

Research

A recent study demonstrates successful treatment of Rosenbaum syndrome using left bundle branch area pacing. This innovative approach may offer new therapeutic options for patients with this rare condition.

rosenbaum syndrome successfully treated with left bundle branch area pacing

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Rosenbaum Syndrome Successfully Treated With Left Bundle Branch Area Pacing.”

spinal muscular atrophy infantile-onset X-linked spinal muscular atrophyResearch

A recent study highlights the presence of spinal muscular atrophy in adult neurology services in India, emphasizing the need for increased awareness and diagnosis in this population. The findings suggest that SMA may be underrecognized in adults, impacting treatment and support.

spinal muscular atrophy in adult neurology services in india

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Spinal Muscular Atrophy in Adult Neurology Services in India.”

granulomatosis with polyangiitis eosinophilic granulomatosis with polyangiitisResearch

A recent case report details a patient with granulomatosis with polyangiitis who presented with chronic conjunctivitis. This highlights the diverse manifestations of the disease and may inform future clinical assessments.

case report of granulomatosis with polyangiitis presenting with chronic conjunctivitis

PubMed Rare Disease·3 months ago·Read at source →

Original title: “A Case Report of Granulomatosis with Polyangiitis Presenting with Chronic Conjunctivitis.”

fungal infection of the toenail fungal infection of eyeResearch

A study identifies a species-specific genomic marker for detecting Trichophyton indotineae, enhancing diagnostic capabilities for this fungal infection. The research validates the assay, potentially improving patient outcomes through timely detection.

detection of trichophyton indotineae using a species specific genomic marker a marker identification and assay validation study

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Detection of Trichophyton indotineae using a species-specific genomic marker: a marker identification and assay validation study.”

ornithine carbamoyltransferase deficiency ornithine aminotransferase deficiency+1 moreResearch

Editorial: Gene therapies are too special to treat like other drugs

Treatment & Clinical News·3 months ago·Read at source →

hepatic encephalopathyResearch

A recent study published in PubMed discusses hepatic encephalopathy linked to extensive hepatic diaphragmatic herniation in an adult horse. This research contributes to the understanding of hepatic conditions in veterinary medicine.

hepatic encephalopathy associated with extensive hepatic diaphragmatic herniation in an adult horse

PubMed Rare Disease·3 months ago·Read at source →

Original title: “Hepatic encephalopathy associated with extensive hepatic diaphragmatic herniation in an adult horse.”

Previous196 / 484Next

Daily Briefings

Not rare diseases news,news about your rare disease.

Earlier

A case report details a one-year follow-up of a patient with familial chylomicronemia syndrome, focusing on lipid profile and growth development. This study contributes to understanding the clinical progression of this rare genetic disorder.

A case report highlights the spontaneous regression of B-cell acute lymphoblastic leukemia (B-ALL) associated with PAX5 alterations during relapse. This finding may provide insights into the mechanisms of leukemia regression and potential therapeutic targets.

A randomized dose escalation study on inhaled LTI-03 for idiopathic pulmonary fibrosis has been published, providing insights into its potential efficacy. This research contributes to the understanding of treatment options for this challenging condition.

A recent study compares various fractionation schemes in carbon ion radiation therapy for sacrococcygeal chordomas. This research could inform treatment protocols and improve patient outcomes for this rare tumor type.

A cross-sectional study evaluates nurses' knowledge and awareness of acromegaly in a high-volume tertiary center. The findings may inform training programs to enhance care for patients with this rare disease.

A recent study explores the validity of digital cognitive testing for assessing cognitive function in mitochondrial disease patients. The findings highlight both the potential benefits and challenges of implementing these tests in clinical trials.

A case report highlights early-onset neonatal sepsis caused by Globicatella sanguinis/sulfidifaciens, contributing to the understanding of rare infectious agents in neonates. This discovery may inform future diagnostic and treatment approaches.

A case report details a small intestinal gastrointestinal stromal tumor coexisting with a retroperitoneal tumor, contributing to the understanding of tumor interactions. This institutional review may provide insights for future research in rare tumor presentations.

A rare case study highlights the presentation and diagnosis of hereditary angioedema in a 7-year-old girl, emphasizing the need for improved management strategies. This case contributes to the understanding of hereditary angioedema and its clinical implications.

A study expands the clinicopathologic spectrum of DEK::AFF2 fusion sinonasal tract and skull base nonkeratinizing squamous cell carcinoma, analyzing 50 cases. This research provides valuable insights into the characteristics and implications of this rare cancer type.

A recent study highlights the occurrence of postoperative pyoderma gangrenosum as a rare surgical mimic following varicose vein surgery. Recognizing this condition early is crucial to prevent extensive tissue loss.

A case study highlights blue rubber bleb nevus syndrome as a rare cause of severe transfusion-dependent anemia in an elderly patient, leading to lower gastrointestinal bleeding. This unusual presentation underscores the need for awareness of this syndrome in clinical settings.

A multinational case series investigates pediatric cerebral sinus venous thrombosis during the first three years of the SARS-CoV-2 pandemic. The study provides insights into the incidence and clinical characteristics of this rare condition in children.

A case report highlights pyoderma gangrenosum as a rare manifestation of myelodysplastic syndrome in a pediatric patient. This finding may enhance understanding of the disease's clinical spectrum.

A recent study demonstrates successful treatment of Rosenbaum syndrome using left bundle branch area pacing. This innovative approach may offer new therapeutic options for patients with this rare condition.

A recent study highlights the presence of spinal muscular atrophy in adult neurology services in India, emphasizing the need for increased awareness and diagnosis in this population. The findings suggest that SMA may be underrecognized in adults, impacting treatment and support.

A recent case report details a patient with granulomatosis with polyangiitis who presented with chronic conjunctivitis. This highlights the diverse manifestations of the disease and may inform future clinical assessments.

A study identifies a species-specific genomic marker for detecting Trichophyton indotineae, enhancing diagnostic capabilities for this fungal infection. The research validates the assay, potentially improving patient outcomes through timely detection.

Editorial: Gene therapies are too special to treat like other drugs

A recent study published in PubMed discusses hepatic encephalopathy linked to extensive hepatic diaphragmatic herniation in an adult horse. This research contributes to the understanding of hepatic conditions in veterinary medicine.

Not rare diseases news,
news about your rare disease.